acute myeloblastic leukemia without maturation

An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)


autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.


cardiac anomalies-heterotaxy syndrome

Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.


idiopathic CD4 lymphocytopenia

A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.


deficiency of coenzyme q cytochrome c reductase


thalassemia minor

The inheritance of only one mutated beta-globin allele (beta+ or beta0).


gestational diabetes insipidus

A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.


preeclampsia/eclampsia 5

Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.


hereditary sensory neuropathy-deafness-dementia syndrome

A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


autosomal dominant hypocalcemia 2

An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


isolated anorectal malformation

Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.


generalized peeling skin syndrome

Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.


Pasteurella hemorrhagic septicemia

Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.


spondylocostal dysostosis 1, autosomal recessive


autosomal recessive nonsyndromic hearing loss 7

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


giant axonal neuropathy

A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.


Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.


alopecia - contractures - dwarfism - intellectual disability syndrome

Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.


rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies


dysspondyloenchondromatosis

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.


neurometabolic disorder due to serine deficiency

Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


atypical lichen myxedematosus

Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.


brachydactyly type A1D

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.


odontomicronychial dysplasia

Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.


X-linked intellectual disability, Cilliers type

X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).


autosomal dominant distal renal tubular acidosis

Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


enamel caries

A dental caries that involves the enamel.


Brugada syndrome 9

Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.


chromomycosis

Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.


vulvar liposarcoma

A rare malignant adipose tissue neoplasm of the vulva.


hypertrichosis of eyelid

A hypertrichosis (disease) that involves the eyelid.


papillary urothelial hyperplasia

A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003


combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.


glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.


neoplastic disease or syndrome

Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


acute myeloid leukemia, inv(16)(p13.3;q24.3)

Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)


A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.


malignant olfactory nerve neoplasm

A primary or metastatic malignant neoplasm affecting the olfactory nerve.


acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.


qualitative or quantitative defects of selenoprotein N1


ghosal hematodiaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.


platelet-type bleeding disorder 18

Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.


DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


intellectual developmental disorder, autosomal recessive 76


central nervous system lupus

Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.


TPM3-related myopathy

TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.


progressive nodular histiocytosis

Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.


neonatal/infantile epilepsy syndrome

An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


uvea neoplasm

A neoplasm (disease) that involves the uvea.


hydrocephalus, nonsyndromic, autosomal recessive 2

Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.


juvenile dermatitis herpetiformis

Dermatitis herpetiformis in children


microcephaly 1, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.


childhood cerebellar neoplasm

A neoplasm that affects the cerebellum and occurs during childhood.


neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


low grade fibromyxoid sarcoma with giant collagen rosettes

A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.


Liddle syndrome 2

Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.


giant axonal neuropathy 1

Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.


coxopodopatellar syndrome

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.


muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15


Leber congenital amaurosis 2

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.


epidermodysplasia verruciformis

A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.


hereditary neutrophilia

A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.


neurodevelopmental disorder with spasticity and poor growth


branched-chain keto acid dehydrogenase kinase deficiency

A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.


neurological muscular channelopathy due to a genetic sodium channel defect


bone marrow cancer

Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003


non-psychogenic polydipsia

A form of primary polydipsia not caused by underlying psychiatric symptoms.


silver-Russell syndrome due to 11p15 microduplication


croup

Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.


Frank-Ter Haar syndrome

A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.


sensory system cancer

A malignant neoplasm involving the sensory system


X-linked immunoneurologic disorder

X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.


acute sensory ataxic neuropathy

Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.


chromosome 15 disorder

Chromosomal disorder in which chromosome 15 is affected.


combined oxidative phosphorylation deficiency 41


X-linked severe syndromic thoracic aortic aneurysm and dissection


autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


isolated microphthalmia 1

A microphthalmia that has material basis in variation in the chromosomal region 14q32.


mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition


idiopathic torsion dystonia

Torsion dystonia for which no underlying cause has been identified.


combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.


PLIN1-related familial partial lipodystrophy


acinar dysplasia caused by mutation in FGF10

Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


macular dystrophy with central cone involvement


congenital stationary night blindness 1F

Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.


cone-rod dystrophy 16

Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.


autosomal dominant ichthyosis vulgaris

Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.


male infertility due to acephalic spermatozoa


retinitis pigmentosa 74

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.


xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).


chromosome 1 disorder

Chromosomal disorder in which chromosome 1 is affected.


pseudohermaphroditism

A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.


symptomatic form of hemophilia B in female carriers

A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.


cataract 34 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.


benign neoplasm of neck

A benign neoplasm that involves the neck.


autoimmune lymphoproliferative syndrome type 4

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.


relapsing polychondritis

A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.


integumentary system disorder

A disease involving the integumental system.


moderate heart failure

Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.


hyper-IgE recurrent infection syndrome 1, autosomal dominant

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.


male urethral cancer

A cancer involving a male urethra.


odontohypophosphatasia

Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


acute myeloid leukemia, t(3;3)(q21.3;q26.2)

Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


partial deletion of the long arm of chromosome 6

Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


aniridia 3

Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.


RPE65-related dominant retinopathy

A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.


complex cortical dysplasia with other brain malformations 7

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.


Cowden syndrome 2

Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.


familial vesicoureteral reflux

Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.


NMNAT1-related retinopathy

A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.


mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.


camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.


lissencephaly with cerebellar hypoplasia type B

Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.


malignant Sertoli-Leydig cell tumor

A malignant form of Sertoli-leydig cell tumor.


autosomal dominant nonsyndromic hearing loss 9

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.


hyperlipoproteinemia type V

A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.


acute opioid poisoning

Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.


Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.


sphenocavernous meningioma

A meningioma that affects the sphenocavernous region.


frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.


bipolar II disorder

A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.


spermatic cord cancer

A malignant neoplasm involving the spermatic cord.


idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


pseudohypoaldosteronism type 2C

Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.


Senior-Loken syndrome 6

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.


acute myeloid leukemia, MLL gene rearrangement

Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)


typhoidal tularemia

A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.


acquired aneurysmal subarachnoid hemorrhage

Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.


antibody mediated epilepsy

An immune epilepsy where the underlying cause is antibody mediated.


pachyonychia congenita 1

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.


atrial fibrillation, familial, 7

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.


maternally-inherited Leigh syndrome

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


Fontaine progeroid syndrome

A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.


Usher syndrome, type 1D/F

Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.


micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


allescheriosis

A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.


atypical juvenile parkinsonism

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.


mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


otodental syndrome

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.


benign paroxysmal tonic upgaze of childhood with ataxia

Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.


multifocal pattern dystrophy simulating fundus flavimaculatus

Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.


precancerous condition

A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.


syndrome with synostosis or other joint formation defect


ribose-5-P isomerase deficiency

Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.


type II complement component 8 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.


COL4A1 or COL4A2-related cerebral small vessel disease


Charcot-Marie-Tooth disease axonal type 2H

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


Desbuquois dysplasia 2

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.


hypomyelinating leukodystrophy 10

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.


neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


stromal keratitis

Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.


ravine syndrome

Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.


combined immunodeficiency with faciooculoskeletal anomalies

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).


blood platelet disease

Disorders caused by abnormalities in platelet count or function.


aleutian mink disease

A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.


late-onset familial hypoaldosteronism

A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.


paraurethral gland cancer

A malignant neoplasm involving the paraurethral gland.


chondrodysplasia Blomstrand type

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.


diffuse lipomatosis

A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.


ventricular fibrillation, paroxysmal familial, type 1


spondylocostal dysostosis 3, autosomal recessive

Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.


West Nile fever

A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)


hyper-IgE recurrent infection syndrome 4, autosomal recessive


mitochondrial complex 1 deficiency, nuclear type 12


age related macular degeneration 2

An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.


iminoglycinuria

A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.


bronchial endocrine tumor

A neuroendocrine neoplasm that involves the bronchus.


tetrasomy

A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.


autosomal recessive lymphoproliferative disease

A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.


acral dystrophic epidermolysis bullosa

Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.


exostoses, multiple, type 2

This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.


intracranial meningioma

A meningioma that arises within the cranial cavity.


intellectual disability, autosomal recessive 61

An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.


partial trisomy/tetrasomy of chromosome 9


achromatopsia 3

Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.


severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


familial partial lipodystrophy

Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


pili gemini

Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.


hemangioendothelioma

A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.


geleophysic dysplasia

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').


acquired factor XI deficiency

An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


Charcot-Marie-Tooth disease type 1E

A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.


spondyloepimetaphyseal dysplasia, matrilin-3 type

A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.


Rasmussen subacute encephalitis

A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.


empyema

An accumulation of pus in a body cavity, usually the pleural space.


neovascular glaucoma

Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.


childhood choroid plexus neoplasm

A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.


chemotherapy-induced hypertension

A form of hypertension that occurs as a direct result of chemotherapy treatment


septicemic plague

A plague in which the bacteria have entered the bloodstream.


TELO2-related intellectual disability-neurodevelopmental disorder


skull base meningioma

A meningioma that arises from the skull base.


intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.


mosaic trisomy 4

Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.


primary organ-specific lymphoma

A header term comprising lymphomas classified based on anatomic location.


Nidovirales infectious disease

Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.


epithelioid cell nevus

A nevus characterized by the presence of large epithelioid melanocytes.


transposition of the great arteries, dextro-looped

Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.


kuru

A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)


xeroderma pigmentosum group D

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.


immunodeficiency 92

An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.


chronic frontal sinusitis

Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


chromosome 1q21.1 duplication syndrome

Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.


benign neoplasm of iris

A benign neoplasm that involves the iris.


excessive tearing

Profuse lacrimation.


sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor.


RPGR-related retinopathy

A retinopathy caused by a variant in the X-linked gene, RPGR.


STT3A-congenital disorder of glycosylation

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).


epidermolysis bullosa simplex with extracutaneous involvement


hereditary angioedema type 2

Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


Charcot-Marie-Tooth disease recessive intermediate C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.


metagonimiasis

An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.


autosomal recessive nonsyndromic hearing loss 29

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.


benign neoplasm of penis

A benign neoplasm that involves the penis.


inborn disorder of the gamma-glutamyl cycle


DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


mitochondrial complex III deficiency nuclear type 5

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.


agammaglobulinemia 7, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.


disorder of GPI anchor biosynthesis

A disease that has its basis in the disruption of GPI anchor biosynthetic process.


mitochondrial complex 1 deficiency, nuclear type 33


focal epithelial hyperplasia

Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.


ataxia - deafness - intellectual disability syndrome

This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.


rapidly progressive primary central nervous system vasculitis

A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.


diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


trachea sarcoma

A rare malignant soft tissue neoplasm that arises from the trachea.


retinal melanoma

A melanoma affecting the retinal portion of the eye. --2003


dyskeratosis congenita, autosomal recessive 2

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.


c11orf73-related autosomal recessive hypomyelinating leukodystrophy


acquired epidermolysis bullosa

Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.


hypomyelinating leukodystrophy 5

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.


neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


intellectual disability, autosomal dominant 55, with seizures


chromosome 22 disorder

Chromosomal disorder in which chromosome 22 is affected.


heart-hand syndrome type 3

Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.


transitional meningioma

A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.


uterine carcinosarcoma

A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.


hereditary sensory and autonomic neuropathy with deafness and global delay

This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.


retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.


neuropathy, hereditary sensory, type 1F

Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.


severe X-linked intellectual disability, Gustavson type

Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.


respiratory system cancer

A malignant neoplasm involving the respiratory system


odontotrichomelic syndrome

Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.


Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.


hypotrichosis 8

Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.


nemaline myopathy 8

An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.


multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.


Seckel syndrome 4

Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.


congenital heart defects, multiple types, 2

Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.


root caries

Dental caries involving the tooth root, cementum, or cervical area of the tooth.


nocturnal paroxysmal dystonia

A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.


prosthesis-related infectious disease

A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.


inborn disorder of pentose phosphate metabolism


combined pituitary hormone deficiencies, genetic form

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


familial atrial fibrillation

An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.


autosomal recessive distal spinal muscular atrophy 1

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.


Niemann-Pick disease, type C2

Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.


hypomagnesemia 7, renal, with or without dilated cardiomyopathy


Larsen syndrome

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.


acquired factor X deficiency

An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.


mosaic translocation Down syndrome

Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.


arbovirus fever

Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.


cauda equina cancer

A cancer that involves the cauda equina.


endometrioid stromal sarcoma of the vagina

A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.


uterine corpus adenosarcoma

A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.


palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.


eye neoplasm

A neoplasm (disease) that involves the eye.


focal facial dermal dysplasia

Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.


X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.


short stature due to growth hormone qualitative anomaly

Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.


sick sinus syndrome 1

Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.


isolated microphthalmia 7

Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.


X-linked form of Dyggve-Melchior-Clausen disease.


congenital anemia

Anemia, the cause of which is present at birth.


chromosome 3q29 microduplication syndrome

3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.


optic atrophy 10 with or without ataxia, intellectual disability, and seizures


disorder of mineral absorption and transport


chromosome 9p deletion syndrome

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.


autosomal recessive extra-oral halitosis


familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).


16p12.1p12.3 triplication syndrome

16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.


sublingual gland neoplasm

A neoplasm (disease) that involves the sublingual gland.


mitochondrial complex V (ATP synthase) deficiency nuclear type 4

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.


malignant testicular germ cell tumor

A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.


hyperlipidemia due to hepatic triglyceride lipase deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.


microtriplication 11q24.1

Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.


Orthocoronavirinae infectious disease

Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.


benign neoplasm of lip

A benign neoplasm that involves the lip.


familial hyperaldosteronism type III

Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.


basal ganglia calcification, idiopathic, 7, autosomal recessive


autoimmune progesterone dermatitis

Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.


acute encephalopathy with biphasic seizures and late reduced diffusion

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.


atypical Rett syndrome

A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).


spinocerebellar ataxia type 27

Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.


idiopathic recurrent and disabling cutaneous herpes


Leber congenital amaurosis 5

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.


gastrointestinal allergy

A allergic disease that involves the digestive tract.


neurodevelopmental disorder with cerebellar hypoplasia and spasticity


nephronophthisis 16

Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.


vasoproliferative tumor of retina

Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.


syndromic orbital border hypoplasia

Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.


cervical carcinosarcoma

A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


congenital merosin-deficient muscular dystrophy 1A

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.


germinomatous germ cell tumor

A term that refers to germinoma, seminoma, or dysgerminoma.


OPA1-related optic atrophy with or without extraocular features

Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.


primary ciliary dyskinesia 21

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.


wooly hair, autosomal recessive 3

Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.


hypomyelinating leukodystrophy 9

Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.


microphthalmia, syndromic 11

Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.


Shwachman-Diamond syndrome 2

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).


childhood kidney angiomyolipoma

An angiomyolipoma occurring in childhood.


congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


spinocerebellar ataxia 43

Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.


autosomal recessive limb-girdle muscular dystrophy type 2H

Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.


mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.


hyperekplexia 2

Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.


autosomal recessive nonsyndromic hearing loss 23

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.


acute myeloid leukemia, t(11;19)(q23.3;p13.3)

Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)


Meier-Gorlin syndrome

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).


retinitis pigmentosa 33

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.


atypical hemolytic-uremic syndrome with thrombomodulin anomaly


sympathetic ophthalmia

Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.


cutaneous syphilis

Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)


juvenile xanthogranuloma

A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.


benign osteogenic neoplasm

A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.


acquired fructose intolerance

Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.


myopathy, reducing body, X-linked, early-onset, severe


immunodeficiency 80 with or without congenital cardiomyopathy

An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.


intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities


Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.


tuberculous oophoritis

An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.


2q33.1 microdeletion syndrome

2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.


extratemporal epilepsy

An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.


partial deletion of the long arm of chromosome 11

A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.


focal, segmental or multifocal dystonia

A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.


benign metastasizing leiomyoma

A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.


distal monosomy 14q

Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.


syndromic X-linked intellectual disability Raymond type

A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.


acquired thrombotic thrombocytopenic purpura

Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


multiminicore myopathy

A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.


isolated growth hormone deficiency type III


geleophysic dysplasia 2

Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.


vaginal adenosarcoma

A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.


Bartholin's gland disease

A female reproductive system disease that is located in Bartholin's gland.


non-syndromic central nervous system malformation

A central nervous system malformation that is not part of a larger syndrome.


familial antiphospholipid syndrome

Autosomal dominant form of antiphospholipid syndrome.


palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.


symbrachydactyly of hands and feet

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.


non-syndromic unicoronal and sagittal craniosynostosis


retinitis pigmentosa Y-linked

Y-linked form of retinitis pigmentosa.


classic galactosemia

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


neonatal period electroclinical syndrome

An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.


sialidosis type 1

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.


GPR179-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.


papillary meningioma

A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.


residual stage corticosteroid-induced glaucoma


dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.


autosomal dominant intermediate Charcot-Marie-Tooth disease

Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.


renal nutcracker syndrome

A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.


spermatogenic failure

A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.


chronic venous insufficiency

Chronic form of venous insufficiency (disease).


ectodermal dysplasia with natal teeth, Turnpenny type

Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.


congenital urachal anomaly

Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.


autosomal recessive isolated diffuse palmoplantar keratoderma

Autosomal recessive form of isolated diffuse palmoplantar keratoderma.


testicular germ cell tumor

A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


nerve plexus disorder

A disease that involves the nerve plexus.


acute salpingo-oophoritis

Acute form of salpingo-oophoritis.


spondylometaphyseal dysplasia, Schmidt type

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.


eccrine sweat gland cancer

An cancer with eccrine differentiation arising from the sweat glands.B


diastrophic dysplasia

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).


retinitis pigmentosa 32

A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.


angiomyomatous hamartoma

An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.


bone fragility with contractures, arterial rupture, and deafness

A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.


cerebral sinovenous thrombosis

A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.


advanced heart failure

Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.


T-B- severe combined immunodeficiency

T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


posterior polymorphous corneal dystrophy 2

Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


double outlet right ventricle with subpulmonary ventricular septal defect


nephronophthisis 2

Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.


myositis ossificans

A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.


neurodevelopmental disorder with impaired speech and hyperkinetic movements


optic tract meningioma

A meningioma that affects the visual pathway.


intellectual disability, autosomal recessive 50

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.


basidiobolomycosis

A disease caused by infection with Basidiobolus.


congenital disorder of glycosylation, type IIw


familial pityriasis rubra pilaris

A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.


arthrogryposis, renal dysfunction, and cholestasis 2

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.


autosomal dominant osteosclerosis, Worth type

A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.


Charcot-Marie-Tooth disease axonal type 2L

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


frontorhiny

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.


acquired Creutzfeldt-Jakob disease

An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.


CNS demyelinating autoimmune disease

Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.


acute myeloid leukemia, t(1;22)(p13;q13)

An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.


microcephalic osteodysplastic dysplasia, Saul-Wilson type

A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.


carcinosarcoma

A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.


ataxic cerebral palsy

A form of cerebral palsy caused by damage to cerebellar structures.


coronary restenosis

Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.


cadmium poisoning

Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.


cervical intraepithelial neoplasia grade 2/3

A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.


congenitally uncorrected transposition of the great arteries with cardiac malformation


autosomal dominant nonsyndromic hearing loss 18

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.