name: Epinephrine^3H post 300 ug cloNIDine PO:SCnc:Pt:Plas:Qn


name: EPINEPHrine^3rd specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: EPINEPHrine^3rd specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: EPINEPHrine^4H post XXX challenge:SCnc:Pt:Plas:Qn


name: EPINEPHrine^4th specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: EPINEPHrine^4th specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: EPINEPHrine^5th specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: EPINEPHrine^5th specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: EPINEPHrine^6th specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: EPINEPHrine^6th specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: EPINEPHrine^7th specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: EPINEPHrine^7th specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Epinephrine^pre 300 ug cloNIDine PO:SCnc:Pt:Plas:Qn


name: Norepinephrine^1H post 300 ug clonidine PO:SCnc:Pt:Plas:Qn


name: Norepinephrine^1H post XXX challenge:SCnc:Pt:Plas:Qn


name: Norepinephrine^2H post 300 ug clonidine PO:SCnc:Pt:Plas:Qn


name: Norepinephrine^2H post XXX challenge:SCnc:Pt:Plas:Qn


name: Norepinephrine^2nd specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: Norepinephrine^2nd specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Norepinephrine^3H post 300 ug clonidine PO:SCnc:Pt:Plas:Qn


name: Norepinephrine^3H post XXX challenge:SCnc:Pt:Plas:Qn


name: Norepinephrine^3rd specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: Norepinephrine^3rd specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Norepinephrine^4H post XXX challenge:SCnc:Pt:Plas:Qn


name: Norepinephrine^4th specimen post XXX challenge:SCnc:Pt:Plas:Qn


name: Norepinephrine^pre 300 ug clonidine PO:SCnc:Pt:Plas:Qn


name: Progesterone^1.5H post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Progesterone^10th specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Progesterone^15M post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Progesterone^1H post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Progesterone^2H post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Progesterone^30M post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Progesterone^45M post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Progesterone^5th specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Triiodothyronine^2nd specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Triiodothyronine^3rd specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Triiodothyronine^4th specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Triiodothyronine^5th specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Triiodothyronine^6th specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Triiodothyronine^7th specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Triiodothyronine^8th specimen post XXX challenge:SCnc:Pt:Ser/Plas:Qn


name: Trisomy 21 risk based on maternal age + Alpha-1-Fetoprotein + Choriogonadotropin + Estriol.unconjugated:Likelihood:Pt:^Fetus:Qn


name: Fetal trisomy 18 risk:Likelihood:Pt:^Fetus:Qn:Based on maternal age


name: In vitro fertilization pregnancy:PrThr:Pt:^Patient:Ord


name: Fetal lung maturity:Imp:Pt:Amnio fld:Nom


name: Herpes simplex virus Ag:PrThr:Pt:CSF:Ord


name: Herpes simplex virus glycoprotein G Ab.IgG:PrThr:Pt:Ser:Ord


name: Influenza virus A Ab^1st specimen:PrThr:Pt:Ser:Ord


name: Influenza virus A Ab^2nd specimen:PrThr:Pt:Ser:Ord


name: Chlamydia trachomatis Ag:PrThr:Pt:Body fld:Ord


name: Adenosine monophosphate.cyclic^2nd specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Hepatitis C virus RNA:LnCnc:Pt:Ser/Plas:Qn:Probe.amp.tar


name: Procollagen type I.N-terminal propeptide:MCnc:Pt:Ser/Plas:Qn


name: Creatinine^2nd specimen post XXX challenge:MCnc:Pt:Urine:Qn


name: Creatinine^1st specimen post XXX challenge:MCnc:Pt:Urine:Qn


name: Creatinine^3rd specimen post XXX challenge:MCnc:Pt:Urine:Qn


name: Creatinine^4th specimen post XXX challenge:MCnc:Pt:Urine:Qn


name: Creatinine^6th specimen post XXX challenge:MCnc:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic^3rd specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic^1st specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic^4th specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic^5th specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic^6th specimen post XXX challenge:SCnc:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic/Creatinine^6th specimen post XXX challenge:Ratio:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic/Creatinine^2nd specimen post XXX challenge:Ratio:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic/Creatinine^3rd specimen post XXX challenge:Ratio:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic/Creatinine^4th specimen post XXX challenge:Ratio:Pt:Urine:Qn


name: Adenosine monophosphate.cyclic/Creatinine^5th specimen post XXX challenge:Ratio:Pt:Urine:Qn


name: Creatinine^5th specimen post XXX challenge:MCnc:Pt:Urine:Qn


name: S100 calcium binding protein B:MCnc:Pt:CSF:Qn


name: S100 calcium binding protein B:MCnc:Pt:Ser:Qn


name: Complete blood count WO Differential panel:-:Pt:BldCo:Qn


name: Clostridium tetani toxoid Ab^2nd specimen/1st specimen:Ratio:Pt:Ser:Qn


name: Corynebacterium diphtheriae toxin Ab^1st specimen:ACnc:Pt:Ser:Qn:IA


name: Corynebacterium diphtheriae Ab^2nd specimen/1st specimen:Ratio:Pt:Ser:Qn


name: (Allium cepa+Allium sativum+Apium graveolens+Lycopersicon lycopersicum+Yeast) Ab.IgE:ACnc:Pt:Ser:Qn:Multidisk


name: Anaplastic lymphoma kinase Ag:PrThr:Pt:Tiss:Ord:Immune stain


name: Borrelia burgdorferi Ab.IgG index:ACnc:Pt:Ser+CSF:Qn


name: BRST 2 Ag:PrThr:Pt:Tiss:Ord:Immune stain


name: Cartilage oligomeric matrix protein:ACnc:Pt:Ser:Qn:IA


name: Inner Ear 68kD Ab:ACnc:Pt:Ser/Plas:Qn:IA


name: Liver kidney microsomal 1 Ab.IgG:ACnc:Pt:Ser:Qn:IA


name: Myelin basic protein Ab:ACnc:Pt:Ser:Qn:IA


name: SCL-70 extractable nuclear Ab.IgG:ACnc:Pt:Ser:Qn:IA


name: Streptococcus pneumoniae 34 Ab.IgG^2nd specimen/1st specimen:Ratio:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 15B Ab.IgG^2nd specimen:MCnc:Pt:Ser:Qn:IA


name: Streptococcus pneumoniae Danish serotype 15B Ab.IgG^2nd specimen/1st specimen:Ratio:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 19A Ab.IgG^2nd specimen/1st specimen:Ratio:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 33F Ab.IgG:MCnc:Pt:Ser:Qn:IA


name: Streptococcus pneumoniae Danish serotype 33F Ab.IgG^2nd specimen/1st specimen:Ratio:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 33F Ab.IgG^1st specimen:MCnc:Pt:Ser:Qn:IA


name: Streptococcus pneumoniae Danish serotype 33F Ab.IgG^2nd specimen:MCnc:Pt:Ser:Qn:IA


name: Streptococcus pneumoniae Danish serotype 15B Ab.IgG:MCnc:Pt:Ser:Qn:IA


name: Streptococcus pneumoniae Danish serotype 15B Ab.IgG^1st specimen:MCnc:Pt:Ser:Qn:IA


name: Hepatitis B virus core Ab:PrThr:Pt:Ser^Donor:Ord:IA


name: Chlamydia trachomatis+Neisseria gonorrhoeae rRNA:PrThr:Pt:XXX^Donor:Ord:Probe.amp.tar


name: Hepatitis B virus surface Ag:PrThr:Pt:Ser^Donor:Ord:IA


name: Salmonella typhi H D Ab:Titr:Pt:Ser:SemiQn:Aggl


name: Toxoplasma gondii Ab.IgG avidity:PrThr:Pt:Ser:Ord


name: Toxoplasma gondii Ab.IgG:ACnc:Pt:Ser:Qn:Dye test


name: BCS1L gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen


name: CYP2D6 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen


name: Herpes simplex virus 1+2 DNA:NCnc:Pt:Ser/Plas:Qn:Probe.amp.tar


name: Herpes virus 6 DNA:Prid:Pt:Ser/Plas:Nom:Probe.amp.tar


name: RB1 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen


name: Varicella zoster virus Ab:ACnc:Pt:Ser:Qn:IA


name: Functional status assessment note:Find:Pt:{Setting}:Doc:{Role}


name: Aspergillus flavus B Ab:PrThr:Pt:Ser:Ord


name: Aspergillus flavus H Ab:PrThr:Pt:Ser:Ord


name: Aspergillus fumigatus B Ab:PrThr:Pt:Ser:Ord


name: Aspergillus fumigatus H Ab:PrThr:Pt:Ser:Ord


name: Aspergillus nidulans B Ab:PrThr:Pt:Ser:Ord


name: Aspergillus nidulans H Ab:PrThr:Pt:Ser:Ord


name: Corynebacterium diphtheriae toxin Ab^1st specimen:ACnc:Pt:Ser:Qn


name: Epstein Barr virus capsid Ab.IgG:Titr:Pt:Body fld:SemiQn


name: Epstein Barr virus capsid Ab.IgM:Titr:Pt:Body fld:SemiQn


name: Epstein Barr virus early diffuse Ab:PrThr:Pt:Ser:Ord


name: Epstein Barr virus early Ab.IgA:Titr:Pt:Ser:SemiQn


name: Epstein Barr virus early Ab.IgG:Titr:Pt:Body fld:SemiQn


name: Epstein Barr virus early restricted Ab:PrThr:Pt:Ser:Ord


name: Haemophilus influenzae B Ab.IgG^1st specimen:MCnc:Pt:Ser:Qn


name: Hepatitis B virus core Ab:PrThr:Pt:Ser^Donor:Ord


name: Hepatitis C virus Ab:PrThr:Pt:Ser^Donor:Ord


name: Herpes virus 8 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Influenza virus A Ab:PrThr:Pt:Eggylk:Ord


name: Influenza virus A H1 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H10 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H11 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H12 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H13 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H14 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H15 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H2 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H3 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H4 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H5 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H6 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H7 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H8 Ab:Titr:Pt:Ser:SemiQn


name: Influenza virus A H9 Ab:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 10 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 10 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 11 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 11 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 12 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 12 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 13 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 13 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 14 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 14 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 7 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 7 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 8 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 8 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 9 Ab.IgG:Titr:Pt:Ser:SemiQn


name: Legionella pneumophila 9 Ab.IgM:Titr:Pt:Ser:SemiQn


name: Powassan virus polyvalent E Ab:PrThr:Pt:XXX:Ord


name: Streptococcus pneumoniae 3 Ab.IgG^2nd specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 15B Ab.IgG^1st specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 15B Ab.IgG^2nd specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 19A Ab.IgG^1st specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 19A Ab.IgG^2nd specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 9V Ab.IgG^1st specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 9V Ab.IgG^2nd specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 9V Ab.IgG^2nd specimen/1st specimen:Ratio:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 33F Ab.IgG^1st specimen:MCnc:Pt:Ser:Qn


name: Streptococcus pneumoniae Danish serotype 33F Ab.IgG^2nd specimen:MCnc:Pt:Ser:Qn


name: Treponema pallidum Ab:ACnc:Pt:Body fld:Qn


name: Vesicular stomatitis Alagoas virus Ab:Titr:Pt:Ser:SemiQn


name: Cytology report:Find:Pt:Nipple discharge:Doc:Cyto stain


name: Cytology report:Find:Pt:Body fld:Doc:Cyto stain


name: Cytology report:Find:Pt:Cvx/Vag:Doc:Cyto stain.thin prep


name: Cytology report:Find:Pt:Breast.ductal lavage:Doc:Cyto stain


name: DNA double strand Ab:ACnc:Pt:Ser:Qn:Farr


name: Views + radial head capitellar:Find:Pt:Upper extremity.bilateral>Elbow:Doc:XR


name: autologous tumor cell vaccine/GM.CD40L cell vaccine


name: imiquimod/Montanide ISA-51/multi-epitope melanoma peptide vaccine/sargramostim/tetanus toxoid helper peptide vaccine


name: dimethyl sulfoxide/multi-epitope melanoma peptide vaccine/sargramostim/tetanus toxoid helper peptide vaccine


name: dimethyl sulfoxide/imiquimod/multi-epitope melanoma peptide vaccine/sargramostim/tetanus toxoid helper peptide vaccine


name: cyclophosphamide/melanoma helper peptide vaccine/Montanide ISA-51/multi-epitope melanoma peptide vaccine


name: melanoma helper peptide vaccine/Montanide ISA-51/multi-epitope melanoma peptide vaccine


name: Montanide ISA-51/multi-epitope melanoma peptide vaccine/tetanus toxoid helper peptide vaccine


name: cyclophosphamide/Montanide ISA-51/multi-epitope melanoma peptide vaccine/tetanus toxoid helper peptide vaccine


name: Montanide ISA-51/ovarian cancer peptide vaccine/sargramostim/tetanus toxoid helper peptide vaccine


name: doxorubicin HCl liposome/ecteinascidin 743


name: fludarabine/iodine I 131 monoclonal antibody BC8


name: CpG-7909/MART-1 antigen/Montanide ISA-51/tyrosinase peptide


name: MAGE-10.A2/Melan-A/Montanide ISA-51/NY-ESO-1 peptide vaccine


name: anti-cytotoxic T-lymphocyte-associated antigen-4 monoclonal antibody/fowlpox-PSA-TRICOM vaccine/sargramostim/vaccinia-PSA-TRICOM vaccine


name: ascorbic acid/beta carotene/selenium/vitamin E


name: ascorbic acid/beta carotene/garlic/selenium/vitamin E


name: docetaxel/prednisone/samarium Sm 153 lexidronam pentasodium


name: fluorouracil/leucovorin calcium/oxaliplatin/suberoylanilide hydroxamic acid


name: Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation


name: Autologous Hematopoietic Stem Cell Transplantation


name: Adenovirus Encoding Recombinant Human Endostatin


name: Live Freeze-Dried Lactic Acid Bacteria Probiotic


name: Arginine/Omega-3 Fatty Acids/Nucleotides Oral Supplement


name: Dynamic Contrast Enhanced Magnetic Resonance Imaging


name: Carcinoembryonic Antigen-Expressing Measles Virus


name: AdRTVP-1-Transduced Prostate Cancer Cell-Based Vaccine


name: Human MHC Non-Restricted Cytotoxic T-Cell Line TALL-104


name: Montanide ISA-51/multi-epitope melanoma peptide vaccine/sargramostim/tetanus toxoid helper peptide vaccine


name: HLA-A2, A3-restricted FGF-5 peptides/Montanide ISA-51 vaccine/interleukin-2


name: Demineralized Bone Matrix (biomedical material)


name: PANCREATITIS, CHRONIC, PROTECTION AGAINST


name: Prominent proximal interphalangeal (PIP) joints


name: Smooth tongue without fungiform papillae (in older children)


name: Ulcers of the tongue due to decreased sensation


name: Spontaneous fracture (in older children)


name: Congenital bowing of the long bones (lower extremity greater than upper extremity)


name: Long bones have wide, flared metaphyses with decreased density


name: Radiolucent metaphyses have abnormal trabecular pattern


name: Blotching pigmentation of the skin (in older children)


name: Progressive juvenile macular dystrophy (onset 3-21 years)


name: Upper limb weakness and atrophy predominates


name: Normal motor nerve conduction velocities


name: Atrophy of affected muscles, especially intrinsic hand muscles


name: Increased opening duration of acetylcholine receptor (AChR)-induced ion channels


name: Loss of or marked reduction of V(D)J recombination activity


name: Severely reduced nerve conduction velocities (NCV) (may become unattainable)


name: Abnormal brainstem auditory evoked potentials, suggesting demyelination


name: Microcephaly, borderline (3rd percentile)


name: Biopsy shows degenerative changes consistent with myopathy


name: Intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin


name: Hearing loss, profound prelingual sensorineural


name: Severely decreased motor nerve conduction velocity (NCV) (15 m/s)


name: Irregular loops and focal folding of myelin sheaths


name: Flexural acanthosis nigricans (females, childhood-early adolescence)


name: Flaked, cracked, missing cuticular scales


name: PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS


name: Nerve biopsy shows axonal degeneration/regeneration


name: Recovery of visual acuity occurs in 60% of patients


name: GDF5, 3-BP DEL, 1309TTG, SER439THR, AND HIS440LEU


name: Right bundle branch block and ST segment elevation on ECG


name: Electroretinography (ERG) shows decreased amplitudes


name: Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)


name: Hypoglycosylation of plasma glycoproteins


name: Tau-immunoreactive inclusions in neurons and astrocytes


name: Tau inclusions are 'flame-shaped' or 'tuft-like'


name: Autosomal dominant (incomplete penetrance)


name: Cervicothoracic vertebral defects (especially C5-T1)


name: Deafness, sensorineural (severe to profound)


name: Normal otoacoustic emissions (OAE), indicating intact outer ear hair cell function


name: OAE responses may decrease with age or use of hearing aids


name: MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA


name: CACNA1A, (CAG)n REPEAT EXPANSION, 20-23 REPEATS, EX47


name: Slightly less ossified than expected for gestational age


name: No cartilage staining with toluidine blue


name: Impaired synthesis of fibroblast sulfated proteoglycans


name: Mildly elevated creatine phosphokinase (CPK) (120270.0002)


name: MYBPC3, BRANCH POINT, IVS23, A-G, TGAT-TGGT


name: Hypomaturation-hypocalcification enamel hypoplasia (primary and permanent teeth)


name: Moderately depressed antibody response to polysaccharide antigens


name: CD43 (sialophorin) defectively expressed on surface of blood cells


name: LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY


name: Osteomyelitis or necrosis, distal, due to sensory neuropathy


name: Ulcers, distal, due to sensory neuropathy


name: Ulcers often lead to infection and amputation


name: EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-1-LIKE 14


name: ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN


name: Generalized cortical atrophy, most prominent in the frontal and parietal lobes


name: Global reduction in cerebral blood flow on PET scan


name: Normal motor nerve conduction velocity (except in severely wasted muscles)


name: May have increased serum parathyroid hormone (PTH)


name: Neurofibrillary tangles and neuritic senile plaques rare


name: Enlarged lateral ventricles (occipital>frontal)


name: Elevated D-2-hydroxyglutaric acid (urine, plasma, CSF)


name: Elevated L-2-hydroxyglutaric acid (urine)


name: Decreased carnitine palmitoyltransferase II (CPT2) activity


name: Reduced total and free carnitine in plasma and tissue


name: Ptosis, variable (bilateral, unilateral, or absent)


name: Ophthalmoplegia, nonprogressive restrictive, bilateral or unilateral


name: Inability to raise one or both eyes above midline


name: MRI shows frontal and temporal cortical atrophy


name: Folliculitis (back, axilla, pubic region)


name: Facial palsy due to cranial nerve VII compression


name: 'Rugger-Jersey' spine (vertebral endplate thickening)


name: Increased trabecular thickness seen on iliac bone biopsy


name: Cemento-osseous lesions (maxilla and mandible)


name: Diaphyseal bowing (radius, ulnae, tibiae, fibula)


name: Irregular areas of radiolucency in metaphyses


name: Short stature, often below 5th percentile


name: Hips usually flexed and abducted (frog-leg position)


name: Height often shorter than unaffected family members


name: Pattern visual evoked potentials show reduced amplitude


name: Nerve conduction velocities may be normal or mildly decreased


name: Extraocular movements may be mildly decreased


name: Proximal limb muscle weakness (occurs later)


name: Muscle biopsy shows intranuclear tubulofilamentous inclusions


name: Diffuse yellow-orange non-epidermolytic hyperkeratosis on palms and soles (palmoplantar keratoderma)


name: Postauricular crescent-shaped hypoplastic skin lesion


name: Frequent bacterial, viral, and opportunistic infections


name: Small lymph nodes, which lack paracortical regions


name: Small or absent thymus, which contains poorly formed Hassal corpuscles


name: Markedly depressed T lymphocyte proportion


name: Reduced erythrocyte purine nucleoside phosphorylase activity


name: High urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine


name: High peaks of upper lip vermilion border


name: ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO


name: Dimples (medial and lateral aspect of lower leg)


name: Linear nevus sebaceous, often in midfacial area


name: Peroneal muscle weakness, transient, recurrent due to peripheral neuropathy


name: Radial, ulnar, and median nerve muscles may be affected


name: Tomacula (sausage-shaped swellings of the myelin sheath) on nerve biopsy


name: Distal sensory loss of all modalities (pain, temperature, touch, vibration)


name: Distal limb muscular atrophy due to peripheral neuropathy


name: Distal limb muscular weakness due to peripheral neuropathy


name: Dorsal spinal columns are diminished in size


name: Dorsal nerve roots and ganglia cells show degenerative changes


name: Distal nerve biopsy shows decreased numbers of small myelinated and unmyelinated fibers


name: Ulcers, distal, painless, due to sensory neuropathy


name: Neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels


name: Lisch nodules (iris hamartomas) may or may not be present


name: Cafe-au-lait spots may or may not be present


name: Tumors at multiple other sites including CNS


name: Absence of vestibular schwannomas at age greater than 18 years


name: Decreased levels of CSF hypocretin (HCRT, 602358)


name: Iliac horns arising from external iliac fossa


name: Elongated radius with hypoplasia of radial head


name: Reticulate hyperpigmentation (periocular, perioral, chest, neck, abdomen)


name: Multiple, small punctate keratoses (palms and soles)


name: Severe mental retardation (congenital form)


name: Reduced fetal movements (congenital form)


name: Electromyography shows myotonic discharges


name: Bilateral facial weakness (congenital form)


name: Absence of myotonia in infancy (congenital form)


name: Weakness of anterior compartment tibial muscles


name: Atrophy of anterior compartment tibial muscles


name: Weakness of long finger extensor muscles (occurs later)


name: Weakness of neck muscles may occur later


name: Biopsy shows nonspecific myopathy without rimmed vacuoles


name: MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS


name: EMG shows myogenic pattern with decreased motor unit potential amplitude


name: Shortened duration of motor unit potentials


name: Single nerve fiber EMG shows increased jitter (impaired neuromuscular transmission)


name: Acetylcholine receptor (AChR) autoantibodies are found in a subset of patients


name: Muscle atrophy, mild, more proximal than distal


name: Paresis of extensor muscles of the big toe is presenting symptom


name: Muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy


name: Cerebellar gangliocytoma manifesting as seizure and tremor


name: Flexion of fingers when hand dorsiflexed (pseudocamptodactyly)


name: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO


name: Failure of premolars and molars to meet at occlusal plane


name: MRI shows congenital abnormalities of the posterior fossa


name: Peripheral neuropathy has been reported in rare cases


name: Decreased secondary sexual characteristics


name: Loss of pigmented neurons in the substantia nigra


name: Distal sensory loss of proprioception and vibration sense


name: Short, dumbbell appearance of long bones


name: Metaphyseal abnormalities of distal and proximal femurs


name: Metaphyseal abnormalities of proximal tibiae and fibulae


name: Metaphyseal abnormalities of distal radius and ulna


name: Bowing of long bones, especially lower limb


name: Markedly expanded cup-shaped metaphyses, infancy


name: Parathyroid hormone-related peptide (PTHrP) absent to low


name: Insidious, painless, nonpitting eyelid edema


name: Periorbital heterogeneous thickening on CT scan


name: Granulomatous lymphangitis on eyelid biopsy


name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2


name: Frequent deletions of chromosome 9 in melanoma


name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1


name: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF


name: Falx, tentorial, and meningeal calcifications


name: Small, irregular distal femoral epiphyses


name: Small, irregular proximal tibial epiphyses


name: Mean length at birth 53 +/- 4.4 cm for males


name: Mean length at birth 52.5 +/- 3.5 cm for females


name: Mean adult height 191.3 +/- 9 cm for males


name: Mean adult height 175.4 +/- 8.2 cm for females


name: Disproportionate tall stature, upper to lower segment ratio less than 0.85


name: Puberty-associated peak in growth velocity is 2.4 years earlier for males and 2.2 years earlier for females


name: Long bone overgrowth (dolichostenomelia)


name: Decreased fibrillin-1 immunostaining in the dermis


name: Partial-total absence of lower eyelashes


name: Lymphography shows increased number of dilated lymphatic vessels (hyperplasia)


name: Lymphography shows hypoplasia of lymphatic vessels


name: Insulin-resistant diabetes mellitus (onset around puberty)


name: Partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)


name: Loss of adipose tissue occurs around puberty


name: Low leukocyte alkaline phosphatase activity


name: Presence of the Philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients


name: Two alternative chimeric oncogene products called p210(BCR-ABL) and p185(BCR-ABL)


name: Detection by RT-PCR, Southern blot analysis, and FISH for primary diagnosis and follow up for residual disease


name: Luton type - hypercellular resting cartilage, normal and large cells, normal column formation, focal degenerating chondrocyte incorporation and focal disorganization


name: Torrance type - Hypercellular resting cartilage, large cells, normal growth plate


name: Superior EKG axis (-60 degrees to -120 degrees)


name: Chromosome deletion extending from 8q24.11 to 8q24.13


name: Episodic generalized skeletal muscle contractions


name: Hyperactive brainstem reflexes (head retraction, palmomental, snout)


name: EMG shows continuous motor unit firing at rest


name: EEG during episodes shows desynchronization


name: Large cutaneous hemangiomata, capillary and cavernous


name: Hyperkeratinization and acanthosis with prominent papillary projections of gingival epithelium without atypia


name: Finely papillated gingival epithelium shows paranuclear bodies in the keratinocytes of the spinous and granular cell layers


name: 3 patterns of tonofilaments in keratinocyte cytoplasm - paranuclear bodies, tonofibrils, and dense aggregates


name: Buccal mucosa preleukoplakia (childhood)


name: Hyperkeratosis, diffuse palmoplantar (tylosis)


name: Buccal mucosa shows acanthosis, parakeratosis, spongiosis without atypia


name: Buccal mucosa shows markedly indented nuclei in basal cell layer, electron-dense intranuclear particles, abnormally shaped enlarged keratohyalin granules, and cytoplasmic vacuoles


name: Hearing loss, high frequency, slowly progressive (onset in early childhood)


name: Superficial and deep corneal stromal vascularization with scarring


name: Hyperkeratosis (palms, soles, elbows, knees)


name: Short stature (less than tenth percentile)


name: Increased digital ulnar loop and hypothenar loop patterns


name: Progressive ataxia (onset second year of life)


name: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6


name: Abnormal visual sensitivity of the brain in reaction to intermittent photic stimulation


name: Abnormal cortical EEG discharges triggered by intermittent light


name: Type II EEG response is parietooccipital spikes followed by biphasic slow waves


name: Type IV EEG response is generalized spike-wave discharges


name: Skeletal muscle tissue shows 14 to 45% depletion of mitochondrial DNA (mtDNA)


name: Loss of independent ambulation by age 10 years


name: Distal sensory and motor axonal neuropathy (onset in late-childhood/adolescence)


name: Impaired distal sensation for tactile, proprioceptive, and vibratory senses


name: Nerve biopsy shows loss of myelinated and unmyelinated fibers


name: Major developmental milestones are not attained


name: Spinous, granular, and stratum corneum layers contain clear vesicles


name: Abnormal distribution of glucosylceramides


name: Lower limbs more affected than upper limbs


name: Muscle biopsy shows myofibrillar myopathy


name: Abnormal muscle fibers with amorphous, granular, or hyaline deposits


name: Abnormal aggregates of desmin and filamin C


name: Electron microscopy showed Z-disk streaming


name: Intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates


name: ALDH3A2, 3-BP DEL/21-BP INS, ALA314GLY, PRO315ALA


name: Neonatal hypotonia Muscle biopsy shows PAS-positive vacuoles


name: Biopsy shows deposition of complement proteins C5b-9 of the membrane attack complex on muscle fibers or in vacuoles


name: Normal alpha-glucosidase or acid maltase activity (GAA, 606800)


name: Biopsy shows cardiomyocytes with PAS-positive vacuoles


name: Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum


name: Patients may have distal or proximal muscle weakness, or both


name: Interictal EEG shows 3-4 Hz general spike-wave complexes


name: Hearing loss, congenital, profound (250-8,000 Hz)


name: Complete syndactyly/synostosis of 3rd-4th fingers


name: Aplasia/hypoplasia of middle phalanges of 2nd and 5th fingers


name: Hypoplasia of distal and middle phalanges


name: Symphalangism affecting the phalanges of the hallux


name: Bilateral postaxial oligodactyly/oligosyndactyly (right side affected greater than left)


name: Nonprogressive restrictive ophthalmoplegia (superior rectus, inferior oblique, levator palpebralis dysfunction)


name: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO


name: Balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)


name: Inability to raise eyes above horizontal midline


name: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5


name: Loss of independent ambulation approximately 30 years after onset


name: Abnormal proximal femur with miniepiphyses


name: Small, secondary ossification centers (miniepiphyses)


name: Marked deformity of or absent proximal femoral epiphyses


name: Mildly flattened distal femoral epiphyses


name: Flared metaphyses (distal femurs and distal tibiae)


name: Distal lower limb muscle weakness due to peripheral neuropathy


name: Distal lower limb muscle atrophy due to peripheral neuropathy


name: Decreased motor nerve conduction velocity (NCV) (less than 38 m/s)


name: Nerve biopsy shows demyelination/remyelination


name: Nerve biopsy shows 'onion bulb' formations


name: Nerve biopsy shows decreased number of myelinated fibers


name: Difficulty walking, running, climbing stairs


name: Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions


name: Delayed motor development due to muscle weakness


name: Decreased vibration sense, suggesting posterior column involvement


name: Predominant loss of pain and temperature sensation


name: Less severe loss of vibration and position sensation


name: Normal or mildly decreased motor nerve conduction velocity (NCV) (greater than 38 m/s)


name: Axonal degeneration/regeneration on nerve biopsy


name: Decreased number of myelinated fibers may be found


name: Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause


name: Seizures usually last 1 to 5 minutes (less commonly up to 10 minutes)


name: Between 2 and 7% of children will develop afebrile seizure disorders later in life


name: Decreased or absent alpha-N-acetylgalactosaminidase protein


name: Decreased or absent alpha-N-acetylgalactosaminidase activity


name: Diverse tissue cell types (vascular endothelial cells, adipocytes, Schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material


name: Fundi show dilated blood vessels with corkscrew-like tortuosity


name: Normal early development, up to 8 to 15 months of age


name: Atrophy of cerebellum, brainstem, cervical spinal cord


name: Lack of lysosomal inclusions in visceral organs


name: Large clumps of pigment irregularly distributed along hair shaft (light microscopy)


name: Short trunk short stature (<3rd - 50th percentile)


name: MRI shows atretic occipital cephalocele with bony skull defect


name: Normal neurologic development in most cases


name: Subscalp nodule (approximately 1.5 to 4 cm)


name: EMG shows myopathic and neurogenic changes


name: Increased staining for myotilin, dystrophin, desmin


name: Electron microscopy shows dense material emanating from the Z-disk


name: Phagocytic vacuoles with degraded membranous material


name: Elevated plasma adrenocorticotropic hormone (ACTH)


name: Lesions show signal increase on T2- and signal decrease on T1-weighted images


name: Basal ganglia lesions may be present before onset of clinical symptoms


name: Absence of immune complexes and lymphocytes in thyroid tissue


name: Decreased serum thyroid-stimulating hormone (TSH)


name: Increased serum levels of free plasma thyroid hormones


name: Distal muscle wasting due to peripheral neuropathy


name: Distal muscle weakness due to peripheral neuropathy


name: Sural nerve biopsy shows hypomyelination/demyelination


name: Sural nerve biopsy shows excessive focal folding of myelin sheaths


name: Decreased myenteric and submucosal ganglia in the bowel


name: Abnormal or absent auditory nerve and brainstem responses


name: Hip girdle muscle weakness (usually presenting symptom)


name: Flexion limitation of fingers, progressive, permanent


name: Flexion limitation of toes, progressive, permanent


name: HEMOGLOBIN, HIGH ALTITUDE ADAPTATION PHENOTYPE


name: High blood oxygen saturation of hemoglobin


name: Dementia, progressive, with onset of disease


name: Recurrent cerebral and cerebellar hemorrhage


name: Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V


name: Non-purposeful arm movements, choreoathetoid-like


name: EEG is slowed with polyspike wave discharges


name: 'Ballooned' neurons with autofluorescent fine granular material


name: Fibroblasts are small and rounded with prominent nucleoli


name: Fibroblasts show increased sensitivity to apoptosis


name: Fibroblasts demonstrate rapid growth with increased DNA synthesis


name: Fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside


name: Fibroblasts have increased activity of serine palmitoyltransferase (SPT, 605712)


name: Widened, irregular, sclerotic metaphyses (humeri, radii, ulnae, femoral neck)


name: Small, irregular capital femoral epiphyses


name: Short stature, disproportionate short-limbed (dwarfism)


name: Psychomotor retardation in those that survive


name: Death in first weeks of life without dialysis


name: Renal biopsy shows diffuse mesangial sclerosis


name: Decreased or absent laminin beta-2 immunoreactivity in the glomerular basement membrane


name: Nonreactive, fixed narrowing of the pupil ('microcoria')


name: Aplasia or atrophy of the dilatator pupillae muscle


name: Decreased or absent laminin beta-2 immunoreactivity in tissues of the anterior eye


name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3


name: Atypical nevi (>5mm with irregular edge and pigmentation)


name: Atypical nevi often present in non-sun exposed areas


name: Cataplexy, paroxysmal weakness or paralysis


name: Cataplexy often triggered by strong emotions


name: Attacks of disabling daytime drowsiness and low alertness


name: Milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy


name: Absence of sensory nerve conduction velocities


name: Patients have supernumerary chromosome - 47,XX(or XY), +der(22), +(11:22)(q23:q11)


name: Carriers have balanced constitutional translocation - 46,XX(or XY), +(11:22)(q23:q11)


name: Visual acuity loss (none to moderate (20/16 to 20/100))


name: Mild temporal pallor of the optic disc (partial optic atrophy)


name: Distinctive electroretinogram - focal macular cone ERG is well-preserved


name: Relative paracentral scotoma in 2/3 of patients


name: Rod-cone perimetry showed normal rod sensitivity, but impaired peripheral cone sensitivity


name: Somatosensory evoked potentials show prolonged latency


name: ADA, IVS11AS, 31701T-A AND 11-BP DEL, NT31702


name: Decreased amplitude of miniature endplate potentials (MEPP)


name: Absence of acetylcholine receptor (AChR) autoantibodies


name: Arthrogryposis multiplex in severe cases


name: EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation


name: Small miniature endplate potentials (MEPP)


name: Small miniature endplate currents (MEPC)


name: Shortened acetylcholine receptor (AChR)-induced ion channel opening


name: DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED


name: Statistical association of extensive metabolism (EM, wildtype) and malignancy, especially smoking-induced lung cancer


name: Association between poor metabolizers (PM) and Parkinson disease


name: PMs show deficient oxidation of debrisoquine


name: PMs show decreased levels of hepatic CYP2D6 enzyme


name: PMs excrete 10 to 200 times less metabolite in urine than wildtype (EM)


name: PMs have increased metabolic ratio of unchanged drug-to-metabolite in urine


name: PMs show impaired metabolism of debrisoquine and related drugs


name: PMs show increased sensitivity to effects of medication


name: GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20


name: GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14


name: Acquire ability to walk and jump in childhood, but motor regression occurs later


name: Muscle biopsy shows decreased glycosylation of alpha-dystroglycan (DAG1, 128239)


name: Decreased glycosylation of alpha-dystroglycan


name: Enlarged polycystic kidneys (detectable prenatally)


name: Lipid accumulation in kidney, especially in proximal convoluted tubules


name: Increased plasma long-chain acylcarnitines


name: Increased tissue long-chain acylcarnitines


name: Decreased plasma total and free carnitine


name: Decreased tissue total and free carnitine


name: Increased tissue levels of triglycerides


name: Increased tissue levels of free fatty acids


name: Distal muscle weakness, occurs initially


name: Accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin


name: Z-disks with abnormal homogeneous material


name: Patchy diffuse hyperintensities on T2-weighted MRI


name: Secondary decrease of calpain-3 (CAPN3, 114240) protein expression in muscle


name: Normal or increased serum creatine kinase


name: Absence of neuropathologic findings in the brainstem and anterior horn cells


name: Variable maturation of genitalia in males


name: Abnormal response to human chorionic gonadotropin indicates decreased testosterone


name: Variable heart rate (range 52-250 beats per minute)


name: Increased disialotransferrin and asialotransferrin levels


name: Prolonged activated partial thromboplastin time (aPTT)


name: Low densities in the basal ganglia similar to Leigh syndrome (256000)


name: Decreased activity of the pyruvate dehydrogenase (PDH) complex


name: Decreased activity of the PDH phosphatase


name: Decreased serum insulin-like growth factor-1 (IGF1)


name: Sural nerve biopsy shows marked loss of myelinated fibers


name: Loss of subcutaneous adipose tissue from upper limbs and trunk


name: Sural nerve biopsy shows loss of myelinated fibers


name: Cutaneous dimples (knees, elbows, shoulders)


name: Brain imaging shows calcification of the dentate nucleus


name: Progresses to involve upper distal limb muscles


name: Proximal muscle involvement rarely occurs


name: Normal motor nerve conduction velocity (NCV) (greater than 38 m/s)


name: Decreased or absent sensory nerve action potentials


name: EMG shows denervation and fibrillation potentials


name: Temperature insensitivity, distal, in some patients


name: Normal large myelinated fiber sensory modalities


name: Accidental injury and ulceration of the lips and tongue due to decreased sensation


name: Acral ulceration and osteomyelitis leading to autoamputation of the digits


name: Increased body temperature, episodic, in some patients


name: Decreased activity of aromatic L-amino acid decarboxylase (AADC)


name: Decreased CSF 5-hydroxyindoleacetic acid (5-HIAA)


name: Increased CSF, plasma, and urinary L-dopa


name: Increased CSF, plasma, and urinary 5-hydroxytryptophan (5HTP)


name: Increased CSF, plasma, and urinary 3-ortho-methyldopa (3-OMD)


name: Increased CSF, plasma, and urinary 3-methoxytyrosine


name: Increased urinary dopamine and dopamine metabolites (paradoxical)


name: Mild to moderate hearing loss across most frequencies


name: Severe loss in the higher frequencies by the fifth decade


name: Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures


name: Relatively higher cognitive abilities than classic autism (608636)


name: Hunched up shoulders (more prominent in adults)


name: Barrel-shaped chest (more prominent in adults)


name: Joint dislocations, congenital or in young adult (knee, hip, shoulder)


name: Joint contractures, onset school age (shoulder, ankle)


name: Kyphoscoliosis, severe progressive (>12 years old)


name: Limited hip abduction/extension (progressive from birth)


name: Laterally displaced fifth finger (adults)


name: Thick and elongated superior cerebellar peduncles


name: Resistance to moderate and severe diastolic hypertension


name: Elevated urinary and CSF ribitol and D-arabitol


name: Deficient ribose-S-phosphate isomerase (RPI) in fibroblasts


name: Normal or increased facial adipose tissue


name: Normal or increased adipose tissue around the neck


name: Retain some mechanical adipose tissue (joints, orbits, palms, soles)


name: Lytic cystic lesions in appendicular bones (occurs after puberty)


name: TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO


name: Abnormal karyotype in single reported female patient 46, XX,r(18)(p14q23)


name: Postaxial oligodactyly (absent 4-5 fingers)


name: Increased His-ventricular conduction time


name: Heterozygous mutation carriers may show first-degree heart block or conduction delay


name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 6


name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 5


name: Joint laxity (hip, knee, shoulder, wrist, fingers)


name: Abnormal karyotype in 3 patients involving distal 6p


name: Severely decreased activity of beta-1,4-mannosyltransferase


name: Thick ropy lattice lines in the corneal stroma


name: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1


name: Speech limited to single word or no words


name: Ictal EEG showed partial seizures with frontal lobe origin


name: Ictal auditory features commonly include simple unformed sounds (buzzing, ringing, clicking, humming), but may also include complex auditory features (voices, music), distorted auditory features (volume changes, muffling), cognitive auditory features (receptive aphasia), reflex auditory features (seizures precipitated by sounds)


name: Ringed sideroblasts on peripheral smear and bone marrow


name: Electron microscopy shows iron-loaded mitochondria


name: Mitochondrial paracrystalline inclusion bodies


name: Gastrointestinal hemorrhage (onset usually 5th-6th decade)


name: Telangiectases (stomach, duodenum, small bowel, colon)


name: Pulmonary arteriovenous malformation (PAVM)


name: A subset of patients develop pulmonary arterial hypertension


name: Mild pyramidal signs (variable expression)


name: Normal or mildly decreased motor nerve conduction velocities (NCV)


name: Nerve biopsy often consistent with axonal neuropathy


name: Weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)


name: Atrophy of the muscles in the anterior compartment of the lower leg


name: Replacement of affected muscle tissue with fatty tissue


name: Biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size


name: Cortical and subcortical neuronal loss in the frontal and temporal regions


name: Absent or reduced sural nerve sensory responses


name: GUCY2D, GLU837ASP, ARG838CYS, AND THR839MET


name: LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO


name: Intracellular fingerprint profiles on ultrastructural analysis


name: Neuropathology shows diffuse demyelination of the cerebral white matter


name: Small cerebral arteries show arteriosclerotic changes


name: Small cerebral arteries show fibrous intimal proliferation


name: Splitting of the intima and/or internal elastic membrane


name: Neuronal loss and gliosis in the substantia nigra pars compacta


name: Enlargement and bulging of the costochondral junction


name: Thalamic neuronal loss, especially in the medial dorsal nucleus


name: No histochemical evidence of mitochondrial myopathy.


name: Muscle mitochondria normal by histochemical analysis


name: Multiple sclerosis-like illness (516003.0001)


name: Central retinal vessel vascular tortuosity (acute phase)


name: Circumpapillary telangiectatic microangiopathy (acute phase)


name: Swelling of retinal nerve fiber layer (acute phase)


name: Diffuse signal abnormality of central white matter


name: Decreased cerebrospinal fluid folic acid


name: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA


name: Occurs most often during the night or early morning


name: Peak frequency of vomiting every 10 to 15 minutes


name: Attention deficit-hyperactivity disorder (CVS+)


name: Microcephaly (in patients with 'CVS-plus,' CVS+)


name: Decreased activity of complex I and complex IV


name: Mitochondria show paracrystalline inclusions


name: Sensorineural, conductive, or mixed hearing loss


name: Duane syndrome (abducens palsy with retracted globe)


name: Klippel-Feil anomaly (fused cervical vertebrae)


name: Parkinsonism, levodopa-responsive (occurs at later stages, may replace dystonia symptoms)


name: Turner Syndrome-Associated Neurocognitive Phenotype


name: Birth weight greater than 97th percentile


name: Birth head circumference greater than 97th percentile


name: Diminished proliferative response of T cells to allogenic cells, mitogens, and antigens


name: Reduced production of interleukin 2 by mitogen stimulated blood lymphocytes


name: Craniosynostosis (lambdoid and coronal sutures)


name: EEG abnormalities - slow waking background, intermittent rhythmical slowing (3-5Hz), epileptiform discharges


name: Reduction or loss of acquired skills (e.g., purposeful hand use, speech)


name: Electroretinogram (ERG) shows a reduced b-wave in most cases


name: Mizuo-Nakamura phenomenon (fundus color changes from red in the dark-adapted state to golden after light exposure)


name: Partial deficiency of cytoplasmic DHT-binding


name: High FSH secondary to androgen insensitivity


name: Testis biopsy shows Leydig cell hyperplasia, hyaline tubular ghosts, and mitotic germ cells but no spermatozoa


name: RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER


name: Ataxia, episodic, occurring after febrile illness or stress


name: Cystic lesions in the basal ganglia, brainstem, and cerebral hemispheres similar to Leigh syndrome (256000)


name: Decreased activity of pyruvate decarboxylase (E1 component)


name: A subset of patients may have subtle increases in blood lactate


name: A subset of patients may have normal levels of blood lactate


name: Rotary head movements ('rolling,' 'tremor')


name: Lack of psychomotor development (severe connatal form)


name: Psychomotor deterioration (classical form)


name: Dysmyelination of the brain, myelin is not formed properly


name: Absent myelination of the brain (severe connatal form)


name: Increased susceptibility to Neisseria infection


name: Short stature (<10th percentile for age)


name: Short, broad distal phalanges, especially thumbs


name: Hepatic ornithine transcarbamylase deficiency


name: X-ray shows irregular pattern of radiolucency and/or spicule-like formation in metacarpals and phalanges


name: Some patients become wheelchair-dependent


name: Vacuoles are autophagocytic and contain granular and membranous cellular debris


name: Increased perisarcolemmal calcium deposition


name: Vacuolated muscle fibers show reduplication of the basement membrane


name: Elevated hemidiaphragm in symptomatic carrier females


name: Increased birth length (>90th percentile)


name: Unilateral skeletal asymmetry (arm and leg) in symptomatic carrier females


name: Unilateral skeletal asymmetry in symptomatic carrier females


name: Muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers


name: Muscle fibers appear as fetal myotubules


name: Muscle fibers are immunoreactive for desmin and vimentin


name: Atrial abnormalities on electrocardiogram


name: Myopathy with type I fiber atrophy on muscle biopsy


name: Absence of emerin by immunohistochemistry on muscle biopsy


name: Neurodegeneration leading to profound mental retardation


name: Iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells


name: Dermatan and heparan sulfate excretion in urine


name: Asymmetric, linear skin defects (anterior face and neck)


name: Repetitive, self-stimulatory behavior using upper limbs


name: Absence of Hb H inclusions in red blood cells


name: Mental retardation (moderate to severe in males)


name: Twisted and partial breaks on magnification


name: Increased signal intensity on T(2)-weighted scans in the periventricular and centrum ovale area


name: Stereotypic behaviors (tantrums, aggressiveness)


name: Dense, posterior cortical cataract (carrier females)


name: Abnormal serum protein electrophoresis (elevated alpha-2 band)


name: A subset of patients develop renal insufficiency with decreased creatinine clearance


name: Renal biopsy shows focal tubular atrophy


name: Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord


name: Lesions characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation


name: Leukocytosis with eosinophilia during stage 1


name: STAGE 1 - skin erythema, vesicles, pustules


name: STAGE 2 - Skin papules, verrucous lesions, hyperkeratosis


name: STAGE 4 - skin pallor, atrophy, and scarring


name: Combined variable immunodeficiency involving B and T cells


name: Reduced CD4+/CD8+ ratio with CD8+ predominance


name: Histology shows large regions of necrosis in lymph nodes, thymus, bone marrow, and spleen


name: Unilateral clavicular, scapular, rib hypoplasia


name: Unilateral hypomelia (digital hypoplasia to complete limb absence)


name: Unilateral erythema and scaling (present at birth or soon after birth, face is spared)


name: Absent/delayed/irregular ischiopubic junction ossification


name: Partial deletion of long arm of chromosome 11 (11q23-qter)


name: ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO


name: INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO


name: IGF1, MUTATION IN POLYADENYLATION SIGNAL, T-A


name: Single median maxillary central incisor (SMMCI)


name: Congenital nasal pyriform aperture stenosis


name: IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRTGAL


name: IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRHGAL


name: IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT


name: IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRPHEGAL


name: PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS


name: Progressive narrowing of interpediculate distance in the lumbar vertebrate


name: Short tubular bones with mild metaphyseal flare


name: Lack of trident hand helps distinguish it from achondroplasia


name: Urinary calcium-creatinine ratio < 0.01:1 supports diagnosis


name: Normal concentration of parathyroid hormone


name: Severely decreased motor nerve conduction velocity (NCV) (less than 38 m/s)


name: Diagnosis by exposing muscle biopsy to caffeine and/or halothane


name: Multiple ossifying fibromas of the mandible and maxilla


name: Increased gonial angle (AD osteosclerosis)


name: Decreased gonial angle (endosteal hyperostosis)


name: Hypercholesterolemia, 350-550 mg/L in heterozygotes, 650-1000 mg/L in homozygotes


name: Tendinous xanthomas presenting after age 20 years in heterozygotes, during first 4 years of life in homozygotes


name: Coronary artery disease presenting after age 30 years in heterozygotes, in childhood in homozygotes


name: Decreased hepatic UDP-glucuronyl-transferase activity


name: Peripheral traction retinal detachment (middle age)


name: 'Empty' vitreous with fibrillary condensations (childhood)


name: Neuronal loss and gliosis in caudate and putamen


name: HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED


name: STATINS, ATTENUATED CHOLESTEROL LOWERING BY


name: SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO


name: Abscesses (in skin folds that carry terminal hairs and apocrine glands including axillae, groin, anal fold, mons pubis, and scalp, but not face)


name: Segmental rupture of the follicular epithelium


name: Foreign material, such as corneocytes, bacteria, sebum products, and hair accumulated in the dermis


name: Necrotic tissue encapsulated by epithelial strands


name: Apocrine glands are secondarily involved


name: Widened proximal femoral metaphyses (early childhood)


name: Irregular greater trochanteric epiphyses (mid-childhood)


name: Failure to pass meconium in first 48 hours of life


name: Acetylcholinesterase staining reveals nerve trunk hypertrophy


name: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2


name: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF


name: HBB, NH2 EXTENSION, VAL1MET, METi RETAINED


name: HBB, GLY56DEL, ASN57DEL, PRO58DEL, LYS59DEL


name: HBA2, METHYLATION SILENCING DUE TO ANTISENSE TRANSCRIPT


name: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1


name: Cerebellar atrophy (especially in the superior cerebellar vermis)


name: Delayed teeth eruption on ipsilateral side


name: Tyrosinemia (transient, resolves in infancy)


name: Metabolic acidosis (transient, resolves in infancy)


name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SOMATIC


name: Large, flattened vertebrae with large pedicles


name: Prolonged bleeding time (10 - >30 minutes)


name: Normal platelet aggregation response to arachidonic acid (AA)


name: Reduced platelet aggregation response to collagen and thrombin


name: Decreased platelet derived growth factor


name: Gray-to-gray-blue platelet on Wright-Giemsa stain


name: Bone marrow aspirate shows normal cellularity and reticular fibrosis


name: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1


name: Reduced fractional excretion of uric acid


name: Subclinical defect in pancreatic exocrine function


name: Amyloid-like plaques, immunoreactive to PrP, predominantly in the cerebellum


name: Amyloid-like plaques are not immunoreactive to APP (104760)


name: Spongiform changes are mild or may not be present


name: Some patients have periodic wave complexes on EEG


name: Pelvic girdle muscle weakness (occurs earlier)


name: Serum creatine kinase may be normal or elevated


name: Low-to-normal platelet count (45 x 10(9)/l)


name: Prolonged bleeding time 15-to->30 minutes


name: Myopia, high-grade bilateral (range -5.50 to -50 diopters, average adult refractive error -13.925 diopters)


name: Increased ocular axial length (35 mm vs. 24 mm in normal non-myopes)


name: Short stature, proportionate (<5th percentile)


name: Muscle weakness, generalized, proximal and distal


name: Muscle biopsy shows type 1 fiber predominance


name: Type 1 fibers with inclusions containing MYH7 protein aggregates


name: Reduced vital capacity due to muscle weakness


name: Nystagmus (jerky, horizontal, congenital)


name: Lower and upper limb muscle weakness due to peripheral neuropathy


name: Lower and upper limb muscle atrophy due to peripheral neuropathy


name: Nerve conduction velocities (NCV) vary from normal to decreased


name: Occasional early 'onion' bulb formations


name: Low to normal range of nerve conduction velocity (NCV) (30-40 m/s)


name: Decreased nerve fiber density and thickness


name: History of percutaneous coronary angioplasty (PTCA)


name: History of coronary artery bypass surgery (CABG)


name: Coronary angiogram showing greater than 70% stenosis


name: Chest pain greater than 30 minutes duration


name: Deafness, sensorineural, prelingual, profound


name: Hearing threshold at or above 90 dB at all frequencies tested (0.25-8.0 kHz)


name: Slowed nerve conduction velocities (NCV)


name: Nerve biopsy may show demyelination and remyelination


name: Increased incidence of fibrocalculus pancreatic diabetes (FCPD)


name: Recurrent abdominal pain since childhood


name: Intraductal calculi, especially in the caput


name: Metacarpal synostosis (4th and 5th digits)


name: Metatarsal synostosis (3rd and 4th digits)


name: Affected mother has reduced zinc levels in breast milk


name: Affected mother has normal plasma zinc levels and is not zinc-deficient


name: Breastfed offspring have transient decrease of plasma zinc levels


name: Pathology shows multiple serous and hemorrhagic follicular cysts lined by luteinized cells ('hyperreactio luteinalis')


name: Ovaries return to normal size after delivery


name: Prolonged somatosensory evoked potentials (SEPs)


name: Decreased immunostaining for alpha-sarcoglycan


name: Febrile seizures (usually remit by age 6 years)


name: Interictal EEG may be normal or abnormal


name: EEG and symptomatology suggest mesial temporal origin


name: Dysgenesis or agenesis of the cerebellar vermis


name: Bilateral macular retinal pigment epithelial mottling


name: Bilateral macular retinal pigment epithelial atrophy


name: Bilateral red-speckled retinal pigment epithelium


name: Ring of moderately increased perifoveal autofluorescence


name: Gradual progressive loss of central visual acuity


name: Electro-oculogram (EOG), flash electroretinogram (ERG) and pattern ERG (PERG) initially normal


name: Greatly reduced light-adapted scotopic and photopic ERG by 7th decade


name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4


name: Encephalopathy, acute, sudden-onset after febrile illness


name: T2-weighted MRI shows hyperintensities in the thalamus, basal ganglia, and brainstem during acute illness (may later resolve)


name: Often an infecting organism cannot be identified


name: Increased CSF protein during acute illness


name: Cerebellar atrophy (especially of the vermis)


name: Congenital absence of distal phalanges (toes 2-5)


name: Absent in utero ossification of pedicles


name: Decreased spontaneous movements at birth


name: Gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system


name: Combined humoral and cellular immunodeficiency


name: Recurrent infections (pneumonia, sinusitis, fulminant varicella)


name: Sclerotic, irregular metaphyses (distal radii and ulnae, distal femurs, proximal fibulae)


name: Hypopigmented skin patches on arms (vitiligo)


name: Partial terminal deletion of short arm of chromosome 1 (1p36)


name: Usually present on skin of neck, shoulders, or trunk


name: Histology shows 'cannonball' distribution of capillary-sized vessels in the dermis


name: Vessels may form rounded nodules ('tufts')


name: Lymphatic vessels present at the periphery of lesion


name: Absence of laminin alpha-2 chain in muscle


name: Increased endomysial connective tissue around muscle fibers


name: Osteoarthritis of the distal interphalangeal joint (DIP)


name: Osteoarthritis of the first carpometacarpal joint (CMC1)


name: GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR


name: Normal or mildly reduced motor nerve conduction velocities (NCV) (greater than 38 m/s)


name: Loss of myelinated fibers on nerve biopsy


name: Telangiectases (palms, soles, scalp, scrotum, legs)


name: Cortical and subcortical regions involved


name: Eosinophilic 'cotton wool' plaques without dense congophilic core in various brain regions


name: Decreased caveolin-3 expression on muscle biopsy


name: Low to normal range of nerve conduction velocity (NCV) (24-41 m/s)


name: Cone-shaped epiphyses (proximal and distal tibia)


name: Cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)


name: Seizures often begin with head and eye deviation


name: Normal to mildly decreased motor nerve conduction velocities (NCV)


name: Secondary demyelination occurs later in disease


name: Brainstem auditory evoked potentials (BAEPs) suggest peripheral lesion


name: Slow pupillary reaction with slow light convergence reflex


name: Segmental demyelination/remyelination on nerve biopsy


name: Normal motor nerve conduction velocities (NCV)


name: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3


name: Sustained eosinophilia (greater than 1,500/cubic mm) for greater than 6 months


name: Total white blood cell count less than 25,000/cubic mm with 30-70% eosinophils


name: Bone marrow biopsy shows increased eosinophils without myeloblasts


name: Giant axons with accumulation of disorganized neurofilaments


name: Generalized tonic-clonic seizures (often develop in adolescence)


name: EEG shows 3-4-Hz spike and multispike slow wave complexes


name: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2


name: Normal to mildly decreased nerve conduction velocities (NCV) (39-40 m/s)


name: Alpha-B-crystallin expression in oligodendrocytes


name: Nephritis, acute tubulointerstitial (mononuclear infiltrate)


name: Non-caseating granulomas (bone marrow and lymph nodes)


name: Breathing difficulty due to vocal cord paralysis


name: Lower limb muscle weakness (occurs later)


name: Generalized tonic-clonic seizures (GTCS) on awakening


name: Fibrosis without fatty infiltration or ductular proliferation


name: Intracytoplasmic vacuoles in eosinophils, neutrophils and lymphocytes


name: Intracytoplasmic vacuoles in basal keratinocytes (with negative oil red O-staining)


name: Split anchoring plaques of desmosomes in the granular layer (transmission electron microscopy (TEM))


name: Normal or mildly reduced sphingomyelinase activity


name: Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy


name: Variable neurologic deterioration (likely result of hemophagocytic syndrome)


name: Hemophagocytic syndrome (HS) characterized by acute onset of uncontrolled T-lymphocyte and macrophage activation


name: Lymphohistiocytic infiltration and hemophagocytosis in multiple organs


name: T-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis


name: Humoral deficiency (likely result of T-cell abnormalities)


name: Decreased acid sphingomyelinase activity


name: Multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes


name: Electron microscopy of foam cells shows lamellar inclusions


name: Decreased pulmonary diffusion secondary to alveolar infiltration


name: Migratory plaques of thickened, sharply demarcated erythema and hyperkeratosis


name: Eosinophils and neutrophils in the epidermis


name: Superficial and deep perivascular infiltrates in the dermis


name: Circumscribed clumps of keratin filaments


name: Dense whorls of keratin filaments in the lower and middle spinous layers


name: White matter hyperintensities (MRI, T2 images) suggestive of old infarcts


name: Deep hypointensities (MRI, T2) suggestive of past microbleeds


name: Involuntary and nonvolitional phenomenon


name: ARSA, MUTATION IN POLYADENYLATION SIGNAL


name: Increased creatine kinase, mild to moderate


name: Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria


name: Minicore regions are poorly defined and do not extend through entire fiber length


name: LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO


name: Gray, crumb-like granular deposits in anterior third of stroma


name: Granular deposits replace epithelial basement membrane


name: Deeper, fusiform lattice deposits develop later


name: Foreign body sensation if erosions occur


name: Histopathology shows hyaline changes consistent with granular dystrophy in the anterior stroma


name: Histopathology shows fusiform amyloid deposits in the deeper stroma as seen in lattice dystrophy


name: Recurrent inappropriate conpensatory behavior to prevent weight gain, including self-induced vomiting, laxative or diuretic abuse, fasting, excessive exercise


name: Feelings of guilt associated with episodes


name: Upper limbs more often affected than lower limbs


name: Cerebral cortical atrophy, especially frontal lobes


name: Distal sensory impairment to vibration and proprioception


name: Sural nerve biopsy shows loss of large and small myelinated axons


name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4


name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 3


name: Hearing loss has been reported in some adults with severe disease


name: Calcification of entheses (tendons, ligaments, joint capsules), more common in adults


name: Normal to mildly increased serum parathyroid hormone (PTH)


name: Inappropriately normal to low-normal serum 1,25-dihydroxyvitamin D3


name: Abnormal response of 25-hydroxyvitamin D-1-alpha-hydroxylase activity (609506) to hypophosphatemia


name: Deficient growth hormone response to insulin, arginine, or levodopa


name: Flexion deformities of thumbs (adducted thumbs)


name: Hepatic abscesses due to immunodeficiency


name: Perirectal abscesses due to immunodeficiency


name: Deficiency or absence of p91-phox protein


name: Deficiency or absence of p22-phox (608508) protein


name: Negative nitroblue tetrazolium (NBT) reduction test


name: Dermatitis, infectious, due to immunodeficiency Impetigo


name: Discoid lupus in carriers or adults with mild disease


name: Liver histology reveals glycogen-distended hepatocytes


name: Liver phosphorylase kinase (PHK) deficiency


name: Progressive mixed conductive and sensorineural hearing loss


name: Erlenmeyer-flask appearance of femur and tibia


name: Localized cutaneous deposits of superficial fat


name: Arborescent papillomas (axillae, periumbilical area, anus, vulva)


name: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3


name: Depressed nasal root and bridge ('saddle nose')


name: Mild localized pigmentation abnormalities


name: Hypoplastic or absent mucous glands which may lead to dried secretions and obstruction


name: Hoarse voice due to dry laryngeal mucosa


name: Squamous cell carcinoma (skin or mucosa)


name: Opportunistic infections (CMV, pneumocystis, candida)


name: Increased chromosomal rearrangements (bone marrow and fibroblast culture)


name: Reticulated skin pigmentation, predominantly on face, neck, chest, arms


name: Mental retardation can occur in patients with repeated episodes of dehydration


name: Lower urinary tract dilatation may occur over time


name: Normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340)


name: Abnormal extrarenal response to dDAVP (no increase in von Willebrand factor or factor VIII)


name: No increase in urinary cyclic AMP (cAMP) in response to vasopressin or dDAVP


name: Sensorineural deafness, postlingual, progressive


name: Punctate calcific stippling sternum, ribs, coracoid process, and glenoid fossae of scapula


name: Mild to moderate distal sensory impairment


name: Decreased nerve conduction velocities (NCV), suggesting demyelination


name: Transient, reversible neurologic deficits


name: Reduced motor nerve conduction velocity (NCV) (range less than 38 m/s to normal)


name: Hyperphalangy of index finger (accessory bone between 2nd-3rd proximal phalanges)


name: Screwdriver blade-shaped incisors (males and females)


name: Ultrastructural abnormalities in mitochondria on electron microscopy


name: Intermittent, transient episodes of worsening of ataxia


name: Intermittent episodes associated with lethargy, vomiting


name: Neuronal loss and gliosis in the dentate nucleus


name: Neuronal loss and gliosis in the inferior olives


name: Alpha-galactosidase A deficiency in plasma, leukocytes, or fibroblasts


name: Bone marrow contains lipid-laden macrophages


name: Increased level of globotriaosylceramide (GB3) in plasma and urinary sediment


name: Painful crises precipitated by exercise, fatigue, or stress


name: Lack of excessive parenchymal iron storage


name: Ringed sideroblasts on bone marrow examination


name: Mild form of hemoglobin H (Hb H) disease


name: Muscle biopsy shows fiber type disproportion


name: Type 1 fibers are at least 12% smaller than type 2 fibers


name: Muscle biopsy shows no dystrophic changes


name: Respiratory distress due to muscle weakness, often fatal


name: Retinitis pigmentosa, severe, early-onset


name: Decreased visual acuity, in some female carriers


name: Night blindness, in some female carriers


name: Muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation


name: Muscle biopsy shows mitochondrial paracrystalline inclusions


name: Muscle biopsy shows decreased muscle-specific phosphorylase kinase activity


name: Appropriately increased serum 1,25-dihydroxyvitamin D3


name: Inappropriately increased urine osmolality


name: Undetectable serum arginine vasopressin, or antidiuretic hormone (ADH, AVP, 192340)


name: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4


name: Short stature (less than 3rd percentile)


name: Inability to hold neck up ('limber neck') onset at 6 months


name: Joint contractures (small and large joints affected)


name: Normal or mildly increased thyroid-stimulating hormone (TSH)


name: Decreased cerebral volume, especially of the frontal lobes


name: Microcephaly (occipitofrontal head circumference, OFC, at or below 3rd centile)


name: Decreased activity of 2-methyl-3-hydroxybutyryl Co-A dehydrogenase


name: Increased urinary 2-methyl-3 hydroxybutyrate


name: Mental retardation, mild (carrier females)


name: Natural killer cells, reduced numbers and cytotoxicity


name: Lymph nodes are small and poorly developed


name: Facial, pharyngeal, and masticatory muscle diplegia


name: Atypical absence, atonic/tonic, or tonic-clonic seizures


name: Bilateral perisylvian cortical malformations on MRI


name: DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1


name: Macrothrombocytes occasionally noted in carrier female peripheral blood smear


name: Behavioral changes consistent with an autistic disorder


name: Chromosomal mosaicism in fibroblast and/or peripheral lymphocytes No consistent karyotypic finding


name: Self-injurious behavior, median onset age 2 years


name: Increased incidence of rectosigmoid cancer


name: Absent or severely reduced levels of serum immunoglobulins


name: Mental retardation (range mild to severe)


name: Low specific antibody titers (e.g., tetanus, polio virus, mumps, rubella)


name: Absent mitogenic response to Staphylococcus aureus Cowan antigen (SAC)


name: Small, irregular proximal femoral epiphyses


name: Indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles


name: Vacuolar membranes immunostain with sarcolemmal proteins


name: Severely decreased or absent LAMP2 protein


name: Positive staining for complement C5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane


name: Small flattened epiphyses (distal femora and proximal tibiae)


name: Metaphyseal cupping (metacarpals and phalanges)


name: 'Cytomegalic' cells (large, pale) in adrenal glands


name: Decreased serum luteinizing hormone (LH)


name: Decreased serum follicle-stimulating hormone (FSH)


name: Increased adrenocorticotropic hormone (ACTH)


name: ALZHEIMER DISEASE NEURONAL THREAD PROTEIN


name: Actin depolymerizing factor/cofilin-immunoreactive eosinophilic rod-like cytoplasmic inclusions in neocortical and thalamic neurons


name: Actin- and actin depolymerizing factor/cofilin-immunoreactive eosinophilic spherical structures in the striatum


name: Seizures, severe, drug-resistant, intractable


name: Complex partial seizures, often with secondary generalization, are the most common type


name: Focal neurologic deficits (i.e., hemiparesis)


name: MRI may be normal, especially in type IIB


name: Multifocal areas of laminar dysmorphic neurons (in type IIA)


name: Blurry cortical-white matter junction due to spillover of abnormal neurons (in type IIB)


name: Diffuse fibrillar astrocytosis (in type IIB)


name: Focal white matter lesions (in type IIB)


name: Focal thickening of the cortex on MRI (in type IIB)


name: Blurring of the gray-white junction (in type IIB)


name: Increased white matter abnormalities on T2 signalling (in type IIB)


name: Funnel-shaped signal tapering from subcortical white matter to ventricle


name: Radial ray abnormalities, highly variable


name: Elevated HDL (2-6x normal) in homozygotes


name: Elevated apoA-I (1.8x normal) in homozygotes


name: Scoliosis, thoracolumbar, severe, progressive


name: Herpes simplex virus infection, mucocutaneous


name: Defective CD95-induced apoptosis of peripheral blood lymphocytes


name: Defective natural killer cell (NK) activation


name: Upper limb involvement (onset in the first decade)


name: Spastic tetraplegia (onset in the second decade)


name: Early involvement of the corticospinal pathways


name: Normal cognition and intellectual function


name: Decreased or absent motor evoked potentials (MEP), indicating dysfunction of the corticospinal tracts


name: Slow eye movements (onset in second decade)


name: Ocular gaze palsies (onset in second decade)


name: Generalized clonic or tonic-clonic seizures


name: Mildly decreased laminin alpha-2 expression (LAMA2, 156225)


name: Variably decreased alpha-dystroglycan expression (DAG, 128239)


name: Neuronal loss in the striatum, medial thalamic nuclei, and inferior olives


name: Gliosis in the striatum, medial thalamic nuclei, and inferior olives


name: TBP- and 1C2-immunoreactive neuronal inclusions


name: CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS


name: NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1


name: Dilated rough endoplasmic reticulum (RER)


name: Macrocephaly (due to Dandy-Walker malformation)


name: Prolonged activated partial prothrombin time (aPPT)


name: Abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)


name: Early and severe foot extensor muscle involvement


name: Secondary hand muscle weakness predominating at the wrist and finger extensor muscles


name: Secondary involvement of proximal and trunk muscles


name: Small, irregular epiphyses (distal femoral, proximal tibiae, distal radii, distal ulnae)


name: Mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae)


name: Small, irregular epiphyses (first metacarpal)


name: Secondary motor complications develop in 50% of those on levodopa therapy


name: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2


name: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3


name: Photosensitivity in one-third of patients


name: Aplastic/hypoplastic middle phalanges (fingers 2-5)


name: Aplastic/hypoplastic middle phalanges (toes 2-5)


name: Aplastic/hypoplastic distal phalanges (toes 2-5)


name: Serum IgA, IgG, and IgE severely deficient


name: Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation


name: Limb muscle weakness (distal greater than proximal)


name: EMG shows fibrillation potentials and mixed myopathic and neurogenic motor unit potentials


name: EMG shows bursts of activity originating in the masseter muscle and spreading to the orbicularis oris and oculi muscles


name: Progressive arthropathy of the interphalangeal and metacarpophalangeal joints


name: Progressive arthropathy of the interphalangeal and metatarsophalangeal joints


name: Glucose breath hydrogen test shows malabsorption of glucose and galactose


name: Fumarase activity (mitochondrial and cytosolic) is decreased


name: Cutaneous leiomyomata (heterozygote carriers)


name: Dystonia, focal, limited to orbicularis oculi muscle (blepharospasm)


name: Involuntary spasms of eyelid closure (blepharospasm)


name: Decreased or absent UDP-glucuronyl-transferase activity


name: Reduced erythrocyte glucose/hexose transport


name: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3


name: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2


name: Serum creatine kinase 20-70 times normal


name: Involves upper and lower proximal muscles


name: Hyperammonemia, asymptomatic (2-5 times normal)


name: Increased vitamin E (alpha-tocopherol) levels


name: Absence of subcutaneous fat over entire body except buttocks, hips, and thighs


name: Brief involuntary movements of upper extremities


name: Prp immunoreactivity limited to cerebellum and putamen


name: Increased urinary, plasma, and CSF N-carbamyl-beta-alanine


name: Increased urinary, plasma, and CSF N-carbamyl-beta-aminoisobutyric acid


name: Increased urinary, plasma, and CSF dihydrouracil


name: Increased urinary, plasma, and CSF dihydrothymine


name: Absence of beta-ureidopropionase activity and protein in liver biopsy


name: GP1BA, 92-BP DUP, SER399-THR411 DUP, VARIABLE REPEATS


name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2


name: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1


name: Sural nerve biopsy shows chronic axonal neuropathy


name: Inability to suppress vestibuloocular reflex (VOR)


name: Small bowel biopsy shows crypt hyperplastic villus atrophy, inflammatory infiltrate within the lamina propria, and disorganized surface epithelium


name: Migraine headaches (ipsilateral to facial hemangioma)


name: Microphthalmia (ipsilateral to facial hemangioma)


name: Aneurysms (internal carotid artery, cerebral artery, subclavian)


name: Aortic aneurysms (ascending or aortic arch)


name: Low to normal range of motor nerve conduction velocity (NCV) (25-54 m/s) ('intermediate' CMT, CMTDIB)


name: GBA, LEU444PRO, ALA456PRO, AND VAL460VAL


name: EMG with spontaneous discharge of normal motor unit potentials


name: X-LINKED B CELL SURFACE ANTIGEN, MOUSE, HOMOLOG-LIKE 1


name: Severe short-trunked dwarfism (identifiable in early childhood)


name: Wedge-shaped 11th or 12th thoracic vertebrae


name: Cone-shaped epiphyses fused within their metaphyses (distal femora, proximal and distal tibiae)


name: Cone-shaped epiphyses (metacarpals and proximal phalanges)


name: Muscle weakness, proximal, slowly progressive


name: Normal-elevated plasma testosterone (male range)


name: Elevated plasma luteinizing hormone (LH)


name: Elevated plasma follicle stimulating hormone (FSH)


name: Imaging shows noncalcified subependymal periventricular heterotopic nodules of gray matter


name: Variegated translocation mosaicism in cultured fibroblasts


name: Poor mitogenic response to growth factors


name: Scleroderma-like skin, especially of face and distal extremities


name: Dysharmonic bone age (carpals more advanced than phalanges)


name: Flared metaphyses (especially distal femora and humeri)


name: A subset of patients have neurologic abnormalities


name: Protuberant abdomen due to muscle weakness


name: Cutaneous 0.5 to 1.0 cm bluish and flesh-colored papules


name: Cysts are similar to those seen in 'atrichia with papular lesions' (209500)


name: Alopecia appears within 12 months of age and is permanent


name: Normal or mildly reduced serum cobalamin


name: Decreased cobalamin in liver, kidney, and cultured fibroblasts


name: Increased free cyanocobalamin in fibroblasts


name: Hearing loss, profound congenital sensorineural


name: Retinitis pigmentosa, progressive (prepubertal onset)


name: Hearing loss, sensorineural, progressive post-lingual


name: Absent vestibular function (caloric test)


name: Extinction of electroretinogram (before age 10)


name: 4-hydroxyphenylpyruvic acid dioxygenase deficiency (HPD)


name: Fumarylacetoacetate hydrolase (FAH) deficiency


name: Deficient hepatic 4-hydroxyphenylpyruvate dioxygenase


name: Elevated plasma and urine succinylacetone


name: Abnormal blood coagulation studies (prolonged PT and PTT)


name: Reduced unsaturated serum cobalamin binding capacity


name: Abnormal Schilling test (not normalized by addition of intrinsic factor)


name: Increased serum thyroid-stimulating hormone (TSH)


name: Normal or mildly decreased serum levels of free thyroid hormones


name: Rapid radioactive iodide (RAI) discharge after thiocyanate or perchlorate


name: Increased serum lactate dehydrogenase (LDH)


name: Ultra large von Willebrand factor (UL-vWF) in plasma


name: Microangiopathic hemolytic anemia (Coomb negative)


name: Thrombotic microangiopathy (hyaline thrombi of platelets and fibrin in terminal arterioles and capillaries)


name: Delayed motor development (secondary to skeletal abnormalities)


name: Mental retardation (secondary to intracranial bleed)


name: Male germ cell tumors (GCT), 2 subtypes -


name: Nonseminoma (embryonal carcinoma, teratoma, choriocarcinoma, endodermal sinus tumor)


name: Elevated hCG or AFP or both (embryonal carcinoma)


name: Macular pallor with prominence of fovea centralis (cherry red spot)


name: SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS


name: Decreased sulfite oxidase activity in fibroblasts


name: Restlessness, agitation, crying under stress


name: Delayed development, ranging from mild to severe


name: Approximately 30% of patients show normal early development


name: MRI shows increased T2-weighted signals in the globus pallidi


name: Increased urinary excretion of 4-hydroxybutyric acid (GHB)


name: Increased level of gamma-aminobutyric acid in urine


name: Decreased activity of succinic semialdehyde dehydrogenase (SSADH, ALDH5A1), less than 5% of control values


name: Choreoathetosis of the face, trunk, extremities


name: Progressive, symmetric degeneration of the caudate and putamen


name: Occasional degeneration of the globus pallidus


name: Initial hypotonia, followed by spasticity


name: Decerebrate or decorticate posturing late


name: Demyelination with white matter disease in internal capsule, external capsule, genu of corpus callosum, subcortical white matter, and posterior fossa


name: Spongy degeneration of brain on histology


name: Increased N-acetyl-L-aspartic acid (NAA) in urine, CSF, and blood


name: Reduced aspartoacylase activity in cultured skin fibroblasts


name: Very short distal phalanges (2nd, 3rd, 4th, 5th)


name: Delayed ossification of femoral capital epiphyses


name: Spatulate terminal phalanges (especially thumbs)


name: Abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)


name: Lateral extension of vertebral bodies beyond the pedicles


name: Vertical linear mixed lucent and sclerotic pattern of metaphyses (distal radii and ulnae, femoral necks)


name: Elevated urine unsulfated chondroitin sulfate


name: Irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation


name: Diffuse atrophy of cerebral hemispheres, corpus callosum, and brainstem


name: Increased serum insulin-like growth factor-1 (IGF1, 147740)


name: Increased or normal serum growth hormone (GH, 139250)


name: Fatty alcohol:NAD+ oxidoreductase deficiency in leukocytes and fibroblasts


name: Pruritic ichthyosis (onset birth to first several months)


name: Elevated urinary free sialic acid (N-acetylneuraminic acid)


name: Increased urinary free sialic acid (N-acetylneuraminic acid, 20-200x normal)


name: Lipoatrophy (lower face, upper limb, buttock)


name: Normal number of circulating lymphocytes


name: Increased number of circulating lymphocytes


name: Defective (Ca2+) mobilization in T cells


name: Pneumonia, particularly pneumocystis carinii


name: Patients may develop a seizure disorder later in life


name: Nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)


name: Deafness, secondary to cranial hyperostosis


name: Stillborn or lethal in the neonatal period


name: Poikiloderma (atrophic plaques with telangiectasia)


name: Absence or reduction in length of humerus, radius, or ulna


name: Absence or reduction in length of femur, tibia, or fibula


name: Chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)


name: Fine, reticulate skin pigmentation (trunk, palm, and soles)


name: Overproduction by T lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha


name: Activated HLA DR+ T cells in peripheral blood


name: Reduced Natural Killer cell cytotoxicity


name: Hemophagocytosis in bone marrow, lymph nodes, spleen, liver, and central nervous system


name: Non-malignant mixed lymphohistiocytic infiltration of the reticuloendothelial system


name: CSF pleocytosis, particularly of lymphocytes


name: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2


name: Hypertrophic labia minora (fibroepithelial hyperplasia)


name: Cherubism (fibrous dysplasia of maxillae and mandible)


name: Gingival biopsy shows hyperkeratosis, acanthosis, papillomatosis


name: Absent sialyl-Lewis X ligand (SLeX) expression


name: Absence of pus formation at site of infection


name: Neutrophilia, both basal and during infections


name: Decreased red cell pyruvate kinase activity


name: Severity of anemia can range from mild to life-threatening


name: Anemia may be exacerbated during infection or pregnancy


name: Jaundice (sometimes onset in the neonatal period)


name: Cystic lesions consistent with Leigh syndrome (256000)


name: Intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (Group B))


name: Increased lactate: pyruvate ratio (Group B)


name: Increased acetoacetate: beta-hydroxybutyrate ratio (Group B)


name: A subset of Group B patients have absence of PC protein and mRNA


name: Delayed psychomotor development (mild to severe)


name: Increased serum and cerebrospinal fluid levels of pipecolic acid


name: Increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde


name: No growth response to exogenous growth hormone (GH, 139250)


name: Decreased serum insulin-like growth factor-1 (IGF1, 147440)


name: Decreased secretion of IGF1 in response to GH administration


name: Decreased number of IGF1 receptors (IGF1R, 147370) on cell surface


name: Intraalveolar nodular calcifications ('microliths')


name: Diffuse, bilateral medial and basal lung involvement


name: Pulmonary function tests show restrictive deficit


name: Pterygia of digits, neck, axillae, antecubital, popliteal, intercrural areas


name: Peau d'orange retinal changes (yellow-mottled retinal hyperpigmentation)


name: Optic head drusen (yellowish-white irregularities of optic disc)


name: Owl's eyes (paired hyperpigmented spots)


name: Mucosal PXE lesions (inner aspect lower lip, cheeks, and palate)


name: 1. yellowish, flat papules (neck, antecubital and popliteal fossae, axillae, inguinal, and periumbilical areas)


name: Extrusion of calcium deposits ('perforating PXE')


name: Calcifications (atrial and ventricular endocardium)


name: Increased serum parathyroid hormone (PTH)


name: Markedly decreased or absent serum 1,25-dihydroxyvitamin D3


name: No breast development or menstruation at puberty


name: Plasma dihydrotestosterone (DHT) is decreased


name: Plasma testosterone is normal or increased


name: Multiple episodes of choking (1st year of life)


name: Absence of sulcus orbitopalpebralis superior (upper eyelid crease)


name: Single flexion crease fingers 2, 3, +/-5


name: Hypoplastic thenar, hypothenar, and interdigital eminences


name: Brain imaging shows white-matter hypodensities and demyelination


name: Liver biopsy shows normal numbers of enlarged peroxisomes


name: Flattened or absent electroretinogram (ERG)


name: Absence of flash-evoked visual responses (VER)


name: Decreased or absent peroxisome acyl-CoA oxidase activity and protein


name: Uroporphyrin I and coproporphyrin I are found in plasma, red blood cells, urine, and feces


name: Uroporphyrinogen III cosynthase (URO cosynthase) deficiency in blood and fibroblasts


name: Polyglucosan bodies (round intracellular inclusions) found in neuronal and astrocytic processes


name: Decreased or absent glycogen branching enzyme activity


name: Small vertebrae (cervical, thoracic, lumbar)


name: Fused vertebrae (cervical, thoracic, lumbar)


name: Increased serum erythropoietin (EPO, 133170)


name: Increased serum vascular endothelial growth factor (VEGF, 192240)


name: Increased serum plasminogen activator inhibitor-1 (PAI1, 173360)


name: Normal or decreased serum erythropoietin (EPO, 133170)


name: Erythroid colony-forming units show spontaneous growth in the absence of EPO


name: Increased echogenicity of entire parenchyma


name: Postprandial hyperglycemia (early in disease course)


name: Fasting hypoglycemia (early in disease course)


name: Follicular hyperkeratosis (trunk and limbs)


name: Infantile irritability (if left untreated)


name: Peculiar stance and sitting posture (if left untreated)


name: Purposeless movements (if left untreated)


name: Increased deep tendon reflexes (if left untreated)


name: Defective myelin formation (if left untreated)


name: Increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine


name: Delayed peripheral nerve motor conduction velocities


name: Histology shows normal numbers of peroxisomes


name: Increased plasma levels of very long-chain fatty acids (VLCFA)


name: Increased plasma levels of bile acid intermediates


name: Decreased peroxisomal fatty acid beta-oxidation


name: Decreased or absent D-bifunctional protein activity and protein


name: Megaloblastic anemia, chronic, relapsing


name: Pernicious anemia, not influenced by intrinsic factor


name: Absence of intrinsic factor by immunoassay of gastric juices


name: Absence of auto-antibodies to intrinsic factor or parietal cells


name: Elevated polyclonal IgD (equal to or greater than 100 IU/ml)


name: Elevated IgA (equal to or greater than 2.6g/L)


name: Lymphadenopathy (cervical, inguinal, axillary)


name: Absent cortical responses of somatosensory evoked potentials


name: Neuropathology shows severe neuronal loss in the inner granular layer of the cerebellum


name: Relative preservation of Purkinje cells, but they are deformed and disaligned


name: Visual fixation absent from birth or lost in first months of life


name: Metaphyseal chondrodysplasia of long bones


name: Narrowness of neural and vascular foramina


name: Elevated antinuclear antibody (ANA) (speckled pattern)


name: Subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial)


name: Blue sclerae at birth becoming normal with age


name: Dentinogenesis imperfecta (both primary and secondary teeth)


name: Long bone deformity evident at birth or in the first 2 years of life


name: Joint contractures (fingers, hips, knees)


name: Progressive loss of peripheral vision (onset in first decade)


name: Blindness (onset in fourth or fifth decade)


name: Elevated urinary ornithine, lysine, arginine


name: Decreased plasma lysine, glutamic acid, and glutamine


name: Tubular aggregates in type 2 skeletal muscle fibers


name: Distal muscle atrophy, more severe in the upper limbs


name: Onset of neurologic symptoms in teenage years


name: Sural nerve biopsy shows mild demyelination


name: Hearing loss, sensorineural, progressive (childhood-onset)


name: Visual acuity for distant vision ranges from 1/10 to 2/10 as adult


name: Distal sensory loss of vibration and proprioception


name: Decreased sensory nerve action potentials


name: Growth retardation, prenatal and postnatal


name: Mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy


name: More than 50% of mitotic cells show premature chromatid separation (PCS) affecting all chromosomes


name: Anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies


name: Fatal liver failure in infancy (occasional)


name: Multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes


name: Distal limb muscle atrophy due to peripheral neuropathy, mild


name: Distal ulceration and osteomyelitis leading to autoamputation


name: Decreased plasma apolipoprotein B (APOB, 107730)


name: Progressive white matter lesions in the brain


name: Delayed motor nerve conduction velocities (NCV)


name: Pain insensitivity, diffuse (including to visceral pain)


name: Markedly decreased small unmyelinated nerve fibers


name: Loss of sympathetic fibers innervating eccrine sweat glands


name: Susceptibility to rage in 50% of patients


name: Delayed wound healing with normal immune system


name: Absent axonal flare response to intradermal histamine injection


name: Anhidrosis of the trunk and limbs 100% of the time


name: Reduced or abolished electroretinogram (ERG)


name: Granular osmiophilic cytoplasmic deposits (GROD) ultrastructurally in cells


name: Fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid


name: Abdominal mass with calcifications on radiology


name: Diarrhea (due to vasoactive intestinal peptide)


name: Periorbital ecchymoses (soft tissue involvement)


name: Neuroblastoma, arises anywhere along the sympathetic chain (including intracranially)


name: Increased urinary homovanillic acid (HVA)


name: Increased urinary vanillylmandelic acid (VMA)


name: Tumor may secrete vasoactive intestinal peptide (VIP)


name: Characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva


name: Insulin deficiency (may develop later in life)


name: Lacunar halos around chondrocytes in skeletal cartilage


name: Proximal limb muscle weakness (initially)


name: Nemaline bodies are usually subsarcolemmal or sarcoplasmic


name: Joint deformities (may develop over time)


name: Myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)


name: Myotonia is most pronounced in the extremities


name: Myotonia improves with continued activity ('warm-up phenomenon')


name: Transient muscle weakness occur in 75% of patients, particularly in the arms and hands


name: EMG shows spontaneous, repetitive electrical activity ('myotonic runs')


name: External ophthalmoplegia affecting upward and lateral gaze


name: Muscle atrophy, limb-girdle and proximal


name: Disorganization of the myofibrillar pattern


name: Acute fatty liver in pregnancy (fetus with carnitine palmitoyltransferase I (CPT1) deficiency)


name: Normal to elevated total plasma carnitine


name: Carnitine palmitoyltransferase I deficiency (fibroblast, liver, leukocytes)


name: Decreased long-chain fatty acid oxidation


name: Impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise


name: EEG - polyspike on photic stimulation (stage 1)


name: Stimulation sensitive segmental myoclonus (stage 2)


name: Stimulation sensitive generalized myoclonus (stage 3)


name: Intermittent wheelchair dependence (stage 3)


name: EEG - alpha slowing, 4-6 Hz spike waves, myoclonus on photic stimulation (stage 2)


name: EEG - alpha abolished, continuous spike waves, intense myoclonus on photic stimulation (stage 3)


name: Action myoclonus (triggered by voluntary movements)


name: Simple partial seizures with secondary generalization


name: Intracellular PAS-positive polyglucosan inclusion bodies ('Lafora' bodies)


name: Intracellular PAS-positive polyglucosan inclusion bodies ('Lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)


name: Absence of peroxidase staining in neutrophils and monocytes


name: Decreased myeloperoxidase activity in neutrophils and monocytes


name: EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation


name: Increased jitter seen on single fiber EMG


name: Muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers


name: Defect in resynthesis and packaging of acetylcholine


name: Electron microscopy shows decreased size of synaptic vesicles


name: Difficulty rising from a squatting position


name: Gastrocnemius and soleus muscles most affected


name: Hamstring and quadriceps muscles mildly affected


name: Sparing of small hand and finger muscles


name: MRI shows increased signal intensity in affected muscles consistent with fatty infiltration


name: Muscle biopsy may show inflammatory changes


name: Muscle biopsy shows decreased or absent dysferlin staining


name: Pectoralis muscles may be less involved, leading to inward shrugging posture


name: Increased echo intensity in affected muscles


name: Vacuole membranes show ATPase reactivity consistent with origin from the sarcoplasmic reticulum


name: Decreased or absent reflexes due to muscle weakness


name: Muscle weakness, proximal greater than distal


name: Increased endo- and perimysial connective tissue


name: Normal to mildly increased serum creatine kinase


name: Loss of independent ambulation around age 12 years


name: Subclinical cardiac involvement in a subset of patients


name: Deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity


name: Hypoplastic to absent terminal phalanges (especially fifth finger)


name: Hypoplastic to absent terminal phalanges (especially fifth toe)


name: Absent superior division of oculomotor nerve and corresponding alpha motor neurons


name: Bilateral infraducted eye position (downward gaze)


name: Birthweight greater than 90th percentile


name: Gingival fibromatosis (slowly progressive enlargement of gingiva)


name: Progressive ectopic ossification of tendons and ligaments


name: Progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)


name: Bilateral, often asymmetric involvement of femora


name: FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF


name: Increased serum C-reactive protein (CRP, 123260)


name: Transient erysipelas-like erythematous rash


name: Exostoses in juxtaepiphyseal regions of long bones


name: Hypersensitivity of erythroid colony-forming units to erythropoietin (EPO, 133170)