cardiac diverticulum

Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.


premature ovarian failure 19

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botryomycosis

A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.


herpangina

A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.


hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.


sulfide quinone oxidoreductase deficiency


primary orthostatic hypotension

Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


achondrogenesis type IA

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


GNPTG-mucolipidosis

A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


nystagmus 4, congenital, autosomal dominant


atypical lipomatous tumor

An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.


facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.


combined PSAP deficiency

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.


acquired hemoglobinopathy

An instance of hemoglobinopathy that is acquired during the lifetime of the individual.


humeral agenesis/hypoplasia

Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.


non-histaminic angioedema

Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.


neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


X-linked spinocerebellar ataxia type 4

Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.


thrombophilia, X-linked, due to factor 9 defect

A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).


pediatric meningioma

A meningioma that occurs during childhood.


neuronal ceroid lipofuscinosis 11

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.


focal facial dermal dysplasia type III

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.


congenital disorder of deglycosylation 1

A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.


leukoencephalopathy with bilateral anterior temporal lobe cysts

Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.


childhood onset asthma

Asthma that starts in childhood.


mitochondrial complex 4 deficiency, nuclear type 14


intellectual disability, autosomal dominant 33

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.


congenital stromal corneal dystrophy

Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.


Zika virus congenital syndrome

A congenital birth syndrome that arises from materal Zika infection.


X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.


dentinogenesis imperfecta type 2

Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.


moderately severe hemophilia A

Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


hereditary spastic paraplegia 10

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.


spondylocostal dysostosis 5

Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.


glucocorticoid deficiency 2

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


amelia of lower limb

A non-syndromic amelia that involves the hindlimb.


central polydactyly of fingers, bilateral


granular corneal dystrophy type I

Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.


benign neoplasm of meninges

A benign neoplasm that involves the meningeal cluster.


HIV enteropathy

A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)


vitamin D-dependent rickets, type 2A

Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.


pulmonary artery coming from the aorta

Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.


meningoencephalitis

Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.


B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

The term refers to precursor lymphoid neoplasms which are composed of B-lymphoblasts and characterized by the presence of recurrent genetic abnormalities.


familial steroid-resistant nephrotic syndrome with sensorineural deafness


macrothrombocytopenia, isolated, 2, autosomal dominant


lethal faciocardiomelic dysplasia

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.


hypoplasminogenemia

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.


intellectual disability, autosomal dominant 1

An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.


A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.


anterior optic tract meningioma

A meningioma that affects the anterior visual pathway.


orbital granuloma

A granuloma located on the orbit of the eye.


retinal ciliopathy due to mutation in Usher gene


immunodeficiency, common variable, due to APRIL deficiency

Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.


benign Samaritan congenital myopathy

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.


oligoarticular juvenile idiopathic arthritis

Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.


non-syndromic brachydactyly of fingers

A non-syndromic brachydactyly that involves the manus.


calvarial doughnut lesions-bone fragility syndrome

This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.


autosomal recessive disease

Autosomal recessive form of disease.


intellectual disability, autosomal recessive 16


distal monosomy 1q

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.


early-onset pulmonary and cutaneous vasculitis

A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.


alcohol and nicotine codependence

A drug dependence that is the physiological result of being addicted to alcohol and nicotine.


Cenani-Lenz syndactyly syndrome

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.


autosomal recessive nonsyndromic hearing loss 37

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


soft tissue chondroma

A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.


neurolymphomatosis

A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.


tooth agenesis, selective, 3

Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.


FRAXE intellectual disability

A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.


B-cell adult acute lymphocytic leukemia

An acute B-lymphoblastic leukemia occurring in adults.


focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.


primary ciliary dyskinesia 5

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


disease related to hematopoietic stem cell transplant

Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.


carnitine palmitoyl transferase II deficiency, neonatal form

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.


Mycoplasma encephalitis

Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).


benign neoplasm of testis

A benign neoplasm that involves the testis.


focal palmoplantar keratoderma with joint keratoses


Cornelia de Lange syndrome 4

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.


hypogonadotropic hypogonadism 22 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.


brainstem neoplasm

A neoplasm (disease) that involves the brainstem.


porencephaly-cerebellar hypoplasia-internal malformations syndrome

Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.


congenital dyserythropoietic anemia type 2

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


MELAS syndrome caused by mutation in MTND1

Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


mast cell neoplasm

A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


malignant dysgerminomatous germ cell tumor of ovary

Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.


cataract 37

A cataract that has material basis in variation in the region 12q24.2-q24.3.


DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


Brazilian hemorrhagic fever

Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.


autosomal dominant nonsyndromic hearing loss 30

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.


Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.


malignant cornea melanoma

A melanoma within the cornea of the eye.


macular degeneration, age-related, 3

Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.


acquired prothrombin deficiency

An instance of prothrombin deficiency that is acquired during the lifetime of the individual.


Lujo hemorrhagic fever

Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.


intellectual disability, autosomal dominant 10

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.


amyotrophic lateral sclerosis type 16

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.


Dent disease type 2

Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.


isolated osteopoikilosis

A osteopoikilosis (disease) that is not part of a larger syndrome.


neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


GNPTAB-mucolipidosis

An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.


epidermolysis bullosa, junctional 5A, intermediate


Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).


keratosis palmoplantaris striata 2

Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.


asphyxiating thoracic dystrophy 2

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.


malignant teratoma

A malignant form of teratoma.


X-linked dominant disease

X-linked dominant form of disease.


ring chromosome 19

Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.


intellectual developmental disorder, autosomal recessive 79


progressive bulbar palsy of childhood

A progressive bulbar palsy of childhood that occurs during childhood.


wandering spleen

A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.


B-lymphoblastic leukemia/lymphoma with hypodiploidy

A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.


preeclampsia/eclampsia 4

Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.


asynchronous multifocal osteogenic sarcoma

A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.


congenital herpes simplex virus infection

Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.


extensive peripapillary myelinated nerve fibers


hypercalcemic sarcoidosis

Sarcoidosis with a complication of hypercalcemia.


neurodegeneration with brain iron accumulation 2A

A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.


RAB28-related retinopathy

A retinopathy caused by biallelic variants in the RAB28 gene.


malignant germ cell tumor of cervix uteri

A malignant germ cell tumor that involves the uterine cervix.


spinal accessory nerve neoplasm

A neoplasm involving a accessory XI nerve spinal component.


granulomatous disease, chronic, autosomal recessive, 5


Israeli tick typhus

An infectious disease caused by infection with rickettsia conorii subsp. israelensis.


papular elastorrhexis

An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.


chromosome 18 disorder

Chromosomal disorder in which chromosome 18 is affected.


glucose transport disorder

An inherited metabolic disease that is has its basis in the disruption of glucose transport.


spondylometaphyseal dysplasia, Czarny-Ratajczak type


vaginal cancer

A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.


muscular dystrophy, limb-girdle, autosomal dominant 4


corneal dystrophy-perceptive deafness syndrome

Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.


lissencephaly with cerebellar hypoplasia

Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.


acquired adrenogenital syndrome

An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.


prostate angiosarcoma

A malignant vascular neoplasm arising from the prostate.


indeterminate dendritic cell tumor

A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.


Angelman syndrome due to a point mutation


psoriasis-related juvenile idiopathic arthritis

Childhood arthritis typically associated with psoriasis.


Hypoglossia-hypodactyly syndrome

A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.


florid cystic endosalpingiosis of the uterus


malposition of the coronary ostium

Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.


caveolinopathy

A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals


intellectual disability, X-linked, syndromic, Bain type

An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.


subclavian artery aneurysm

A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.


philophthalmiasis

A disease caused by infection with Philophthalmus.


intra-abdominal lymph node mast cell malignancy


Summitt syndrome

Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.


humero-radio-ulnar synostosis

Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.


non-gestational choriocarcinoma

A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.


heterotaxy, visceral, 5, autosomal

Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.


biotin metabolic disease

A deficiency in biotin through either inherited or acquired causes.


retinitis pigmentosa 45

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.


acute sphenoidal sinusitis

Acute form of sphenoid sinusitis.


dermo-odonto dysplasia

Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.


neuroectodermal-endocrine syndrome

Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.


A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


hereditary spastic paraplegia 46

A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.


Löfgren syndrome

A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.


tendon sheath disorder

A disease that involves the tendon sheath.


autosomal dominant nonsyndromic hearing loss 3A

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.


dysbaric osteonecrosis

A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.


frontofacionasal dysplasia

Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).


autosomal recessive distal osteolysis syndrome

Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.


dedifferentiated solitary fibrous tumor

A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.


neuronopathy, distal hereditary motor, type 2D

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.


hemimelia

Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.


qualitative or quantitative defects of telethonin


partial duplication of the long arm of chromosome 7

Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


myoclonic encephalopathy in non-progressive disorder

This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.


nerve root neoplasm

Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.


dysostosis with brachydactyly without extraskeletal manifestations


transient congenital hypothyroidism due to neonatal factor


hereditary sensory and autonomic neuropathy type 6

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


classic Hodgkin lymphoma, nodular sclerosis type


skin fragility-woolly hair-palmoplantar keratoderma syndrome


2-methylacetoacetyl CoA thiolase deficiency


Hodgkin's lymphoma, mixed cellularity

A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)


spinocerebellar ataxia type 17

A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.


epulis

A non-neoplastic nodular lesion that arises from the gingiva.


neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity


atypical glycine encephalopathy

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.


prostate leiomyosarcoma

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


glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form


craniotelencephalic dysplasia

Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.


nemaline myopathy

Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.


mononeuritis simplex

Neuritis of a single nerve.


petroclival meningioma

A meningioma that affects the petroclival region.


dendritic cell tumor

A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.


ataxia - telangiectasia variant

Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.


intellectual developmental disorder, autosomal dominant 65


autosomal recessive nonsyndromic hearing loss 20

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.


hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency


Dandy-Walker malformation-postaxial polydactyly syndrome

Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.


monoclonal paraproteinemia disease

A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.


benign neoplasm of choroid

A benign neoplasm that involves the optic choroid.


intravascular papillary endothelial hyperplasia

A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.


malignant soft tissue neoplasm

A malignant neoplasm arising exclusively from the soft tissues.


metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.


fetal akinesia-cerebral and retinal hemorrhage syndrome

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.


infectious meningitis

Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.


skin disorder caused by infection

Skin diseases caused by bacteria, fungi, parasites, or viruses.


cap myopathy

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.


spinal muscular atrophy, facioscapulohumeral type


mesoblastic nephroma

A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.


acquired sensory ganglionopathy

An instance of sensory ganglionopathy that is acquired during the lifetime of the individual.


broad ligament malignant neoplasm

A malignant neoplasm involving the broad ligament of uterus.


neurological muscular channelopathy due to a genetic potassium channel defect


leiomyoma

A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


optic atrophy with demyelinating disease of CNS


corneal-cerebellar syndrome

A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.


toxemia of pregnancy

A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.


nephrotic syndrome, type 6

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


glycosylphosphatidylinositol biosynthesis defect 15

A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.


progressive retinal dystrophy due to retinol transport defect


myopathy, lactic acidosis, and sideroblastic anemia 1

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.


3M syndrome 1

Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.


skeletal muscle neoplasm

A benign or malignant mesenchymal neoplasm arising from skeletal muscle.


post-COVID-19 disorder

A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.


carbohydrate metabolism disease

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


hypersensitivity vasculitis

A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


16p13.11 microdeletion syndrome

16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.


adult lymphoma

A lymphoma that occurs in an adult.


posthitis

An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.


telangiectatic osteogenic sarcoma

An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.


dermatitis herpetiformis, familial

Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.


congenital myopathy 4B, autosomal recessive

Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.


Hartnup disease

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


melanocytic neoplasm

A benign or malignant, primary or metastatic neoplasm affecting the melanocytes.


myocardial disorder

A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.


sweat gland cancer

A malignant neoplasm that affects the sweat glands.


malignant dermis tumor

A malignant neoplasm involving the dermis.


necrotizing encephalomyelopathy, subacute, of Leigh, adult


ASAH1-related sphingolipidosis

A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.


glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form


carbohydrate transport disease

A disease that has its basis in the disruption of carbohydrate transport.


unilateral retinoblastoma

A retinoblastoma that only involves a single eye.


mixed cell uveal melanoma

A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.


autosomal dominant nonsyndromic hearing loss 53

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.


congenital insensitivity to pain-hypohidrosis syndrome

A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.


microphthalmia, isolated, with coloboma 6


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.


autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.


hereditary spastic paraplegia 77

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.


autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.


hereditary spastic paraplegia 6

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.


angular blepharoconjunctivitis

A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.


disorder of folate metabolism and transport


coenzyme Q10 deficiency

A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


Angelman syndrome due to paternal uniparental disomy of chromosome 15


hereditary spastic paraplegia 39

This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.


acquired kinky hair syndrome

Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.


drug-induced lupus erythematosus

An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.


thrombophilia due to protein C deficiency, autosomal recessive


autosomal recessive nonsyndromic hearing loss 1B

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


limbic encephalitis with DPP6 antibodies


circadian rhythm sleep disorder

A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)


hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome


linear skin defects with multiple congenital anomalies 2

Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.


split hand, bilateral

Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


pontocerebellar hypoplasia, type 1C

Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.


autosomal recessive nonsyndromic hearing loss 93

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.


arbovirus infection

A viral infection that is transmitted by an arthropod.


facial onset sensory and motor neuronopathy

Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.


hypogonadotropic hypogonadism 12 with or without anosmia

A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.


holoprosencephaly 9

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.


B-lymphoblastic leukemia/lymphoma with t(17;19)


tuberculous pneumothorax

A pneumothorax in which air enters into the pleural cavity.


hereditary spastic paraplegia 57

An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.


craniometadiaphyseal dysplasia, wormian bone type

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.


late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome


paternal uniparental disomy of chromosome 20

Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.


schizophrenia 15

A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.


cutaneous collagenous vasculopathy

Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.


traumatic brain injury

A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.


middle cranial fossa meningioma

A meningioma that affects the middle cranial fossa.


non-syndromic polydactyly, syndactyly and/or hyperphalangy


dentin sensitivity

Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.


cyclothymic disorder

An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.


neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures


Alzheimer disease 11

An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.


nonsyndromic genetic hearing loss

A disease characterized by hearing loss that is not part of a larger syndrome.


benign lymphoepithelial lesion of salivary gland

A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.


neoplasm of mature T-cells or NK-cells

A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.


hereditary hyperekplexia

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.


benign carotid body paraganglioma

A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.


angiodysplasia

Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.


combined oxidative phosphorylation deficiency 54


juvenile idiopathic scoliosis

A scoliosis with no known cause arising in a juvenile.


inborn disorder of ornithine or proline metabolism


agammaglobulinemia 6, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.


GAPO syndrome

A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations


myeloid neoplasm

Proliferation of myeloid cells originating from a primitive stem cell.


necrotizing scleritis

A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.


congenital disorder of glycosylation, type 2v


Bartter disease type 2

Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.


acquired polycythemia

An instance of polycythemia that is acquired during the lifetime of the individual.


intellectual disability, autosomal recessive 25


drug-induced akathisia

An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.


porphyria

Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.


eye adnexa disorder

A disease involving the ocular adnexa.


tick paralysis

Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.


inborn disorder of pyridoxine metabolism

An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.


dyskinesia with orofacial involvement, autosomal dominant

A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.


ring chromosome 16

Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.


congenital disorder of glycosylation, type iit


Volkmann contracture

An ischemic contracture of the forearm that most often occurs secondary to trauma.


cortical dysplasia, complex, with other brain malformations 10


infectious discitis

An infection of the intervertebral disk space.


hyperphosphatasia with intellectual disability syndrome 1

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.


autosomal dominant optic atrophy

An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.


bilateral retinoblastoma

Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.


frontal fibrosing alopecia

Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.


glossopharyngeal nerve disorder

A disease involving the glossopharyngeal nerve.


congenital absence of both forearm and hand, bilateral

Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.


grade III meningioma

A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.


Friedreich ataxia with retained reflexes


trisomy 17p

Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.


familial hemophagocytic lymphohistiocytosis 3

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.


Desulfovibrionaceae infectious disease

Infections with bacteria of the family Desulfovibrionaceae.


neuroaxonal dystrophy

A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)


fibrocartilaginous embolism

Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.


intellectual disability, autosomal dominant 6

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.


myoclonic dystonia 15

A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.


autosomal thrombocytopenia with normal platelets


distal trisomy 17q

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.


congenital heart defects, multiple types


bladder lateral wall cancer

The aspect of the bladder wall that is located on the side.


congenital unguarded mitral orifice

Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.


cubital tunnel syndrome

Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)


herpes zoster dermatitis

Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.


trilateral retinoblastoma

Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).


palpebral nevus

A melanocytic nevus that involves the skin of eyelid.


Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).


uterine benign neoplasm

A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.


craniosynostosis syndrome, autosomal recessive

Autosomal recessive form of craniosynostosis.


erythropoietic uroporphyria associated with myeloid malignancy


acute hemorrhagic encephalitis

Acute encephalitis that is characterized by bleeding.


autosomal dominant aplasia and myelodysplasia


epithelioid hemangioendothelioma

A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.


neurodevelopmental disorder with hearing loss and spasticity


retinitis pigmentosa 54

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


Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.


congenital supravalvular mitral ring

Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.


McLeod neuroacanthocytosis syndrome

A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.


NDE1-related microhydranencephaly

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.


autosomal recessive nonsyndromic hearing loss 3

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.


corneal dystrophy, lattice type 3A

Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.


basal ganglia calcification, idiopathic, 4


calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia


mucolipidosis type III, alpha/beta

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.


patterned macular dystrophy 1

Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


limbic encephalitis with nCMAgs antibodies


autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive form of hereditary sensory and autonomic neuropathy.


placental villitis

Inflammatory process that involves the chorionic villi (villitis) of the placenta.


benign mastocytoma

A localized mast cell neoplasm without metastatic potential.


Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.


X-linked spinocerebellar ataxia type 3

A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.


frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.


cranioectodermal dysplasia 1

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.


PRKAR1B-related neurodegenerative dementia with intermediate filaments


bilineal acute myeloid leukemia

An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003


polydactyly of a triphalangeal thumb, bilateral


amyotrophic lateral sclerosis type 20

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.


aromatase deficiency

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


macrothrombocytopenia, isolated, 1, autosomal dominant

Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.


alcoholic ketoacidosis

An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.


progressive encephalomyelitis with rigidity and myoclonus


immunotactoid or fibrillary glomerulopathy

A group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.


viral infection of central nervous system


pulmonary hypertension, primary, 4

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.


collagen type III glomerulopathy

A rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.


contractures-ectodermal dysplasia-cleft lip/palate syndrome

Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.


Meier-Gorlin syndrome 6

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.


microphthalmia, isolated, with coloboma 5

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


apolipoprotein A-I deficiency

A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).


Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.


spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.


mast syndrome

Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.


unilateral multicystic dysplastic kidney

Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.


Usher syndrome type 1F

A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.


gonococcal salpingitis

An salpingitis caused by infection with Neisseria gonorrhoeae.


partial monosomy of the long arm of chromosome 9


childhood disintegrative disorder

A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.


infantile-onset X-linked spinal muscular atrophy

A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.


prostate stromal sarcoma

A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.


amyotrophic lateral sclerosis type 10

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


intellectual disability, autosomal recessive 46

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.


myofibrillar myopathy 8

Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.


neuropathy, hereditary sensory and autonomic, type 2B

Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.


complement component 9 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.


macular amyloidosis

Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.


idiopathic linear interstitial keratitis

Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.


arthrogryposis-ectodermal dysplasia-other anomalies syndrome


dysostosis, Stanescu type

Stanescu type dysostosis is a rare form of osteosclerosis.


spastic ataxia 4

Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.


fibroosseous pseudotumor of the digits

A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.


vascular ectasia

Dilatation of the blood vessels.


autosomal recessive distal spinal muscular atrophy 2

Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).


digitotalar dysmorphism

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.


congenital mitral valve insufficiency and/or stenosis


ocular cicatricial pemphigoid

Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.


intellectual disability, autosomal dominant 20

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.


cataract 29

A cataract that has material basis in variation in the region 2pter-p24.


junctional epidermolysis bullosa with pyloric atresia

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.


hypoplastic left heart syndrome 1

Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.


MASA syndrome

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.


nasolacrimal duct cyst

Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.


congenital absence/hypoplasia of fingers excluding thumb, bilateral


complex neurodevelopmental disorder with motor features

A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.


B-lymphoblastic leukemia/lymphoma with hyperdiploidy

A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome.


neonatal intrahepatic cholestasis due to citrin deficiency

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.


Haim-Munk syndrome

Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.


AIDS dementia complex

A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)


irritant dermatitis

An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.


congenital bile acid synthesis defect 6

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.


atypical dopamine transporter deficiency syndrome

A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.


acute myeloid leukemia, t(10;11)(p12;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)


severe combined immunodeficiency due to CORO1A deficiency


odontochondrodysplasia 1

A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.


frontotemporal dementia and/or amyotrophic lateral sclerosis 2

An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.


salpingitis isthmica nodosa

Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.


suprabasal epidermolysis bullosa simplex

A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.


Bickerstaff brainstem encephalitis

Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).


hypogonadotropic hypogonadism 27 without anosmia


overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.


juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.