neurodevelopmental disorder with or without autism or seizures


biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:ThingWithTaxon

An epilepsy syndrome that has an onset during the adolescent or adult stage of life.


congenital disorder of glycosylation syndrome type 4


eye allergy

An allergic disease involving a pathogenic inflammatory response in the camera-type eye.


muscle-eye-brain disease with bilateral multicystic leucodystrophy

Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.


hypomagnesemia, seizures, and intellectual disability 2


hypomyelination with brain stem and spinal cord involvement and leg spasticity


autosomal recessive nonsyndromic hearing loss 5

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.


mosaic trisomy 9

Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.


cortical dysplasia, complex, with other brain malformations 12


heterotaxy, visceral, 4, autosomal

Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.


nephronophthisis 9

Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.


reticuloendotheliosis, X-linked

A greater than normal number of blood cells in the reticuloendothelial system.


semantic agnosia

An agnosia that is a loss of the ability to visually recognize an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognize the object.


myeloproliferative disease, autosomal recessive


geleophysic dysplasia 1

Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.


combat disorder

Neurotic reactions to unusual, severe, or overwhelming military stress.


developmental and epileptic encephalopathy, 79


developmental and epileptic encephalopathy, 40

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy


polycythemia due to hypoxia

Polycythemia resulting from hypoxia.


congenital coronary artery aneurysm

Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.


nemaline myopathy 4

Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.


intellectual disability, autosomal recessive 60


cerebellar hypoplasia-tapetoretinal degeneration syndrome

Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.


hereditary hypophosphatemic rickets

Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.


skin lipoma

A benign or malignant adipose tissue neoplasm of the skin.


hibernoma

A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.


zoster sine herpete

Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.


neurodevelopmental disorder with or without seizures and gait abnormalities


congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


dystonia 5

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.


aerobic Actinomyces infection

Infection with the less common aerobic antinomyces bacteria.


agnathia-otocephaly complex

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.


autosomal dominant nonsyndromic hearing loss 66

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.


isolated optic neuritis

A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.


acromesomelic dysplasia

A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type


primary basilar invagination

Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.


19p13.12 microdeletion syndrome

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.


Adams-Oliver syndrome 5

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.


conductive deafness-ptosis-skeletal anomalies syndrome

Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.


mosquito-borne viral encephalitis

Viral encephalitis that is transmitted by mosquitos.


autosomal recessive nonsyndromic hearing loss 42

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.


lissencephaly 9 with complex brainstem malformation


spermatogenic failure 5

Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).


nephronophthisis 14

Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.


congenital bronchobiliary fistula

Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.


neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities


11p15.4 microduplication syndrome

11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.


primary syphilis

The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.


malignant tumor of adrenal cortex

A cancer that involves the adrenal cortex.


autosomal recessive spinocerebellar ataxia 11

Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.


vibratory angioedema

Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.


dystonia 23

Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.


desmoplastic spitz nevus

A Spitz nevus associated with fibrous stroma formation.


Ehlers-Danlos syndrome, musculocontractural type 2

Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.


distal trisomy 5q

Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).


circadian rhythm sleep disorder, advanced sleep phase type

A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.


cataract 1 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.


toluene embryopathy

Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.


MRI defined brain infarct

An infarct detected by MRI and not determined to be clinically significant


Oroya fever

An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.


chondroectodermal dysplasia with night blindness

Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.


familial hyperaldosteronism type II

Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.


developmental and epileptic encephalopathy, 3

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.


autosomal dominant childhood-onset proximal spinal muscular atrophy


osteogenesis imperfecta type 3

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).


X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.


erythrokeratodermia variabilis et progressiva 1


hereditary spastic paraplegia 52

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.


root resorption

Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)


classic congenital mesoblastic nephroma

A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.


microform holoprosencephaly

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.


orofaciodigital syndrome III

Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.


Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.


split-hand/foot malformation with long bone deficiency 1


nontoxic goiter

Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.


pulmonary artery leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.


pulmonary nodular lymphoid hyperplasia

Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.


environmental induced asthma

An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.


methemoglobin reductase deficiency

Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.


vesicoureteral reflux 2

Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.


T-cell childhood acute lymphocytic leukemia

An acute lymphoblastic leukemia of T-cell origin occurring in children.


cardiac valvular dysplasia, X-linked

An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.


Schistosoma japonicum infectious disease

An infection that is caused by Schistosoma japonicum.


herpes zoster with dermatitis of eyelid

A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.


melanotic medulloblastoma

A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.


autosomal dominant cerebellar ataxia type I

Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.


myopathy, centronuclear, 6, with fiber-type disproportion


drug-induced methemoglobinemia

Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).


congenital insensitivity to pain with hyperhidrosis


combined ApoA-I and ApoC-III deficiency

A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.


noma

Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.


complete atrioventricular canal-ventricle hypoplasia syndrome


lymphatic malformation 4

Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.


ulnar hemimelia

Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.


severe phosphoribosylpyrophosphate synthetase superactivity

Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.


age related macular degeneration 6

Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.


Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.


fibrosis of extraocular muscles, congenital, 3c


isolated unilateral hemispheric cerebellar hypoplasia

Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.


retinitis pigmentosa 30

Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.


endometrial type cervical adenomyoma

An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.


hyper-IgE recurrent infection syndrome 4A, autosomal dominant

An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.


lipodystrophy due to peptidic growth factors deficiency

Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).


spitz nevus

A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.


German syndrome

German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.


A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.


CNGB1-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.


Foster-Kennedy syndrome

Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.


inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.


Niemann-Pick disease type C, late infantile neurologic onset


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked


fetal akinesia deformation sequence 2

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.


microphthalmia, isolated, with cataract 1


autosomal recessive nonsyndromic hearing loss 71

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.


benign familial nocturnal alternating hemiplegia of childhood

Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.


Reis-Bucklers corneal dystrophy

Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.


nephrotic syndrome, type 11

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.


trisomy 8p

Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.


microcephaly 28, primary, autosomal recessive


spindle cell oncocytoma

A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.


MELAS syndrome caused by mutation in MTTL1

Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.


hyper-IgE syndrome

A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.


pneumonic tularemia

A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.


nasopharyngeal diphtheria

Infection of the nasopharynx by Corynebacterium diphtheriae.


form agnosia

An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.


posterior cerebral artery infarction

Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).


nervous system neoplasm

A neoplasm (disease) that involves the nervous system.


mitochondrial DNA deletion syndrome with progressive myopathy


tetrasomy 21

Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.


cranioectodermal dysplasia 3

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.


superficial epidermolytic ichthyosis

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.


odontochondrodysplasia 2 with hearing loss and diabetes


chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency

An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).


MELAS syndrome caused by mutation in MTTS1

Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.


neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.


optic atrophy 11

Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.


bullous impetigo

Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.


spondyloarthropathy

A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.


arrhythmogenic cardiomyopathy with wooly hair and keratoderma

A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.


neuropathy, congenital hypomyelinating, 2


immunodeficiency 81

A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.


spermatogenic failure 11

Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.


encephalopathy due to beta-mercaptolactate-cysteine disulfiduria


upper limb mononeuronitis

A disease affecting a single peripheral nerve of the upper limb.


striated muscle rhabdoid tumor

A rhabdoid tumor that involves the striated muscle tissue.


inborn disorder of aspartate family metabolism

An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.


isolated aniridia

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.


mixed-type autoimmune hemolytic anemia

Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.


benign conjunctival neoplasm

Abnormal growth of the cells of the conjunctiva without malignant characteristics.


Leber congenital amaurosis 7

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


mild phenylketonuria

Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.


short-rib thoracic dysplasia 19 with or without polydactyly


intellectual disability, autosomal recessive 52

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.


amyotrophic lateral sclerosis type 5

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.


developmental delay and seizures with or without movement abnormalities

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).


mu-heavy chain disease

Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).


progressive familial heart block type II


congenital stationary night blindness 1D

Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.


neoplasm of floor of mouth

A neoplasm (disease) that involves the mouth floor.


buccal mucosa neoplasm

A neoplasm (disease) that involves the buccal mucosa.


vulvar lichen sclerosus

A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.


RFT1-congenital disorder of glycosylation

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).


cervical adenofibroma

A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.


myosclerosis

Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.


Charcot-Marie-Tooth disease type 2R

Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.


pre-malignant neoplasm

A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.


immunodeficiency due to ficolin3 deficiency


isolated partial cerebellar vermis agenesis


developmental and epileptic encephalopathy, 18


lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.


cortisone reductase deficiency

A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.


benign peritoneal mesothelioma

A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.


intellectual disability, autosomal recessive 9


non-syndromic X-linked intellectual disability

Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.


Rickettsia parkeri spotted fever

A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.


meralgia paresthetica

Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.


Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.


Leber congenital amaurosis 10

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.


fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.


X-linked form of spondyloepimetaphyseal dysplasia.


glanders

A condition resulting from infection by Burkholderia mallei, which mainly affects horses.


eyelid seborrheic keratosis

A seborrheic keratosis that involves the eyelid.


familial hemophagocytic lymphohistiocytosis 2

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.


calcifying epithelial odontogenic tumor

A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.


hemidystonia-hemiatrophy syndrome

Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.


neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


spondyloepiphyseal dysplasia tarda, autosomal dominant

Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.


monosomy 13q34

Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.


congenital bile acid synthesis defect 5

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.


acral peeling skin syndrome

Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.


SNRNP200-related dominant retinopathy

A retinopathy caused by heterozygous variants in the SNRNP200 gene.


leiomyosarcoma of the cervix uteri

Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.


chromosome 13q14 deletion syndrome

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.


acquired hemophagocytic lymphohistiocytosis associated with malignant disease


PHACE syndrome

PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.


barbiturate dependence

A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.


manganese poisoning

Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)


autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.


Hao-Fountain syndrome

A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene.


neuronopathy, distal hereditary motor, type 2B

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.


dyskeratosis congenita, autosomal recessive 3

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.


cranioectodermal dysplasia

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).


DPM3-congenital disorder of glycosylation

DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


paragonimiasis

A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.


synaptopathy

A disease caused by dysfunction of synapses.


7p22.1 microduplication syndrome

7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.


Siegler-Brewer-Carey syndrome

Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.


congenital myopathy 4A, autosomal dominant


Tatton-Brown-Rahman overgrowth syndrome

A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.


trichoodontoonychial dysplasia

Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.


hypotrichosis simplex of the scalp

Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.


glutamate pyruvate transaminase 2 deficiency


acromesomelic dysplasia 2C, Hunter-Thompson type

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.


spinocerebellar ataxia type 30

Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.


platelet-type bleeding disorder 20

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.


hemochromatosis type 4

A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.


X-linked intellectual disability with isolated growth hormone deficiency


balanced Robertsonian translocation Down syndrome

Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes.


inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.


Rosselli-Gulienetti syndrome

A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene


basal ganglia calcification, idiopathic, 6

Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.


hereditary spastic paraplegia 73

Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.


adult-onset citrullinemia type I

Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.


hereditary mucoepithelial dysplasia

A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.


non-human animal disease

A disease that occurs in animals.


von Willebrand disease type 2N

Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).


serpiginous choroiditis

Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.


straddling or overriding tricuspid valve

Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.


epidermolysis bullosa simplex 2B, generalized intermediate


pilosebaceous hamartoma

A hamartoma characterized by localized pilosebaceous apparatus malformation.


developmental and epileptic encephalopathy, 85, with or without midline brain defects


8p inverted duplication/deletion syndrome

8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


carnosinemia

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.


urethra cancer

A malignant neoplasm involving the urethra


testicular Leydig cell tumor

A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.


X-linked centronuclear myopathy

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.


Cowden syndrome 7

Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.


CNGA3-related retinopathy

A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.


split hand-foot malformation 4

Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.


neuronal intranuclear inclusion disease

Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.


auriculoosteodysplasia

Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.


ichthyosis, lamellar, autosomal dominant


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.


benign urethral neoplasm

Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.


punctate palmoplantar keratoderma type 1

Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..


oculopharyngodistal myopathy

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.


pulmonary hypertension, primary, 3

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.


chondrodysplasia with joint dislocations, gPAPP type


qualitative or quantitative defects of nebulin


autosomal recessive osteopetrosis 7

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.


dengue shock syndrome

A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.


encircling double aortic arch

Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.


renal leiomyoma

A leiomyoma that involves the kidney.


tuberculous salpingitis

An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.


congenital myasthenic syndrome 17

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.


choriocarcinoma of testis

A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.


peroxisome biogenesis disorder due to PEX7 defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.


micturation-induced seizures

Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.


pigmented nodular adrenocortical disease, primary, 4

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.


keratosis pilaris atrophicans faciei

A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.


leukostasis

A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.


microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


ANE syndrome

ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.


autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.


autosomal dominant osteopetrosis

Autosomal dominant form of osteopetrosis (disease).


Jeavons syndrome

Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.


autosomal recessive spastic paraplegia type 60


Eiken syndrome

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.


Weismann-Netter syndrome

Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.


autosomal recessive spinocerebellar ataxia 13

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.


cancer of long bone of lower limb

A cancer that involves the hindlimb long bone.


5q14.3 microdeletion syndrome

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.


Wolfram-like syndrome

Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.


Pai syndrome

Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.


vulvitis

Inflammation of the vulva. It is characterized by pruritus and painful urination.


Temple-Baraitser syndrome

A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.


idiopathic recurrent pericarditis

A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.


Stickler syndrome, type I, nonsyndromic ocular


autosomal recessive nonsyndromic hearing loss 84A

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


non-amyloid fibrillary glomerulopathy

Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.


microphthalmia, isolated, with coloboma 7

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.


renal hypomagnesemia 5 with ocular involvement

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.


autosomal recessive dyskeratosis congenita 4

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.


autosomal recessive nonsyndromic hearing loss 18B

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


adrenocortical unresponsiveness to ACTH with postreceptor defect


musculoskeletal system cancer

A malignant neoplasm involving the musculoskeletal system


global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).


cranial nerve neoplasm

Abnormal growth of the cells that comprise the cranial nerves.


filariasis

A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.


intermediate cell type iris melanoma

Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


Oropouche fever

A disease caused by infection with Oropouche virus.


cerebritis

Inflammation of the cerebrum.


integumentary system cancer

A malignant neoplasm involving the integumental system


benign neoplasm of subglottis

A benign neoplasm that involves the subglottis.


generalized epilepsy with febrile seizures plus, type 7

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


vitamin D-dependent rickets, type 2B

Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.


chronic neutrophilic leukemia

A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.


childhood testicular mixed embryonal carcinoma and teratoma

A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.


autosomal dominant limb-girdle muscular dystrophy type 1G

Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.


peroxisome biogenesis disorder 6A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome.


ectodermal dysplasia alopecia preaxial polydactyly


nephrotic syndrome, type 9

Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.


spondyloepiphyseal dysplasia tarda with characteristic facies


testicular non-seminomatous germ cell cancer

A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.


progressive supranuclear palsy-pure akinesia with gait freezing syndrome

PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


infantile onset panniculitis with uveitis and systemic granulomatosis


Cestode infectious disease

Infections with true tapeworms of the helminth subclass Cestoda.


spirochaetales infections

Infections with bacteria of the order SPIROCHAETALES.


hereditary spherocytosis type 2

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.


steroid metabolism disease

A disease that has its basis in the disruption of steroid metabolic process.


post-infectious disorder

A disorder that follows infection but is distinct from the infection itself and its usual manifestations.


immunodeficiency 98 with autoinflammation, X-linked

An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.


eosinophil disorder

A disease or disorder that involves the eosinophil.


alcoholic polyneuropathy

Any disease affecting more than one nerve.


inborn disorder of porphyrin metabolism

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.


autosomal dominant limb-girdle muscular dystrophy type 1E (DES)

Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.


indeterminate leprosy

A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.


intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).


MYPN-related myopathy

Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.


autosomal recessive nonsyndromic hearing loss 48

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.


Kennedy disease

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.


juvenile Huntington disease

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.


acrofacial dysostosis, Palagonia type

Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.


combined oxidative phosphorylation defect type 11

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.


congenital heart block

Heart block that occurs on or before 28 days of life.


carotenemia

Increased serum carotenoids.


nongerminomatous germ cell tumor

A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.


congenital factor VII deficiency

Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.


epidermolysis bullosa simplex with anodontia/hypodontia


glandular cystitis

A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.


spinocerebellar ataxia type 28

Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.


hemoglobin C-beta-thalassemia syndrome

Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.


neurodevelopmental disorder with central hypotonia and dysmorphic facies


neonatal candidiasis

A fungal infection by any of the Candida species in a newborn infant up to 28 days old.


spinocerebellar ataxia, autosomal recessive 26


Tangier disease

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.


visual cortex disorder

A disease involving the visual cortex.


keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.


adrenal gland myelolipoma

A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.


autosomal recessive epidermolytic ichthyosis


developmental and epileptic encephalopathy 106


vasculitis, lymphocytic, nodular

Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.


total circumpapillary dystrophy of choroid


developmental and epileptic encephalopathy, 72


retinitis pigmentosa 51

Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.


pericardial tuberculosis

Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.


vascular brain injury

Damage to the blood vessels of the brain


craniodiaphyseal dysplasia

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.


diphyllobothriasis

Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells).


Melhem-Fahl syndrome

Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.


renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


Charcot-Marie-Tooth disease axonal type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.


autosomal dominant complex spastic paraplegia type 9B


neurovascular disorder

A disorder of the nervous system related to a vascular etiology.


nemaline myopathy 10

Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.


spondyloepimetaphyseal dysplasia, Isidor type


lissencephaly 4

Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.


thyrotoxic periodic paralysis

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.


hypoglossal nerve neoplasm

A neoplasm involving a hypoglossal nerve.


acute myeloid leukemia, t(11;19)(q23;p13.1)

Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)


Charcot-Marie-Tooth disease recessive intermediate B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.


MME-related autosomal dominant Charcot Marie Tooth disease type 2


mitochondrial complex 4 deficiency, nuclear type 15


acrofacial dysostosis Cincinnati type

Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.


Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.


Warburg micro syndrome 2

Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.


jugular foramen meningioma

A meningioma that affects the jugular foramen.


Alzheimer disease 19

Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


asphyxiating thoracic dystrophy 1

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.


syndromic X-linked intellectual disability Snyder type

Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.


autosomal dominant nonsyndromic hearing loss 51

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.


A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.


uterine corpus perivascular epithelioid cell tumor

A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.


isolated growth hormone deficiency type IB

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.


contact dermatitis due to nickel

A form of allergic contact dermatitis that results from exposure to nickel


immunodeficiency 109 with lymphoproliferation


combined oxidative phosphorylation deficiency 44


arterial thoracic outlet syndrome

Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.


schizophrenia 8

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.


ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.


neurodevelopmental disorder with infantile epileptic spasms


coxoauricular syndrome

Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.


severe achondroplasia-developmental delay-acanthosis nigricans syndrome

A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).


chromosome 17p13.3 duplication syndrome

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


adult acne

Acne that occurs in an adult.


isolated cleft lip

Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.


smooth muscle tumor

A benign or malignant myomatous neoplasm arising from smooth muscle.


pediatric extraocular retinoblastoma

Retinoblastoma during childhood that has spread beyond the eye.


polyradiculopathy

A radiculopathy that is present in more than one nerve.


corticosterone methyloxidase type 1 deficiency


Binder syndrome

A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.


neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


radio-renal syndrome

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.


autosomal dominant Charcot-Marie-Tooth disease type 2M

Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.


inborn disorder of lysosomal amino acid transport


hearing loss, sensorineural, autosomal-mitochondrial type


Phelan-McDermid syndrome

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.


childhood malignant neoplasm

A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).


myopathy, congenital, progressive, with scoliosis


benign partial epilepsy of infancy with complex partial seizures

Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.


muscular dystrophy, limb-girdle, autosomal recessive 27


psammomatous meningioma

A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.


double outlet right ventricle with subaortic or doubly committed ventricular septal defect


chromosome 22q11.2 deletion syndrome, distal

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.


mitochondrial complex 1 deficiency, nuclear type 9


nephronophthisis 15

Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.


multiple synostoses syndrome

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.


synchronous multifocal osteogenic sarcoma

A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.


ataxia-telangiectasia with generalized skin pigmentation and early death