intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


mixed dermis disorder

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hydroa vacciniforme-like lymphoma

A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.


Schistosoma mansoni infectious disease

An infection that is caused by Schistosoma mansoni.


14q32 duplication syndrome

14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.


radial neuropathy

Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.


mitochondrial non-syndromic sensorineural hearing loss


alacrima, congenital, autosomal recessive


neural tube closure defect

A disease that has its basis in the disruption of neural tube closure.


inclusion body myopathy and brain white matter abnormalities


neurodevelopmental disorder with language delay and seizures


gingival fibroepithelial polyp

A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.


autosomal dominant nonsyndromic hearing loss 25

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.


pontocerebellar hypoplasia type 2E

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.


female urethral cancer

A cancer that involves the female urethra.


infiltrating lipoma

A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.


anterior spinal artery syndrome

Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)


GM1 gangliosidosis type 3

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.


PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.


childhood-onset Steinert myotonic dystrophy


hyperphosphatasia with intellectual disability syndrome 4

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.


acute ackee fruit intoxication

Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.


neurodevelopmental disorder with hypotonia, microcephaly, and seizures


qualitative or quantitative defects of plectin


immunodeficiency 25

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.


ichthyosis-cheek-eyebrow syndrome

Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.


mitochondrial complex 4 deficiency, nuclear type 8


atypical dentin dysplasia due to SMOC2 deficiency


autosomal recessive nonsyndromic hearing loss 101

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.


Joubert syndrome 28

Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.


non-cutaneous melanoma

Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)


vitamin K-dependent clotting factors, combined deficiency of, type 2

Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.


hypothalamic adipsic hypernatraemia syndrome


Pick disease

A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.


colobomatous microphthalmia-rhizomelic dysplasia syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.


familial hypoparathyroidism

A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.


peritoneal neoplasm

A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.


rhizomelic syndrome, Urbach type

Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.


retinitis pigmentosa 48

Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.


Morgagni cataract

A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.


B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.


neurotic excoriation

A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.


Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.


malignant tumor of parathyroid gland

A cancer that involves the parathyroid gland.


neuroferritinopathy

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.


thrombocytopenia 5

Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.


spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.


chronic dacryoadenitis

Chronic form of dacryoadenitis.


chromosome 1, uniparental disomy 1q12 q21


Charcot-Marie-Tooth disease recessive intermediate D

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.


bathing suit ichthyosis

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.


non-amyloid monoclonal immunoglobulin deposition disease


neuronopathy, distal hereditary motor, type 5B

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.


focal facial dermal dysplasia type II

Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.


celiac trunk compression syndrome

A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.


disorder of galactose and fructose metabolism

An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


autosomal dominant cerebellar ataxia

A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.


premature ovarian failure 5

Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.


RDH12-related recessive retinopathy

A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.


combined oxidative phosphorylation defect type 15

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.


Alzheimer disease 8

An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.


synovium cancer

A cancer that involves the layer of synovial tissue.


transposition of the great arteries and conotruncal cardiac anomaly


Freiberg disease

Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.


anterior urethra cancer

A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.


erythrokeratodermia variabilis et progressiva 7


neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


mitochondrial complex 4 deficiency, nuclear type 3


pseudoachondroplasia

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.


benign mixed tumor of the vulva

A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.


retinitis pigmentosa 23

Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.


adrenal medulla cancer

A malignant neoplasm involving the adrenal medulla


amyotrophic lateral sclerosis type 18

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.


osteogenesis imperfecta type 16

An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.


mitochondrial complex 1 deficiency, nuclear type 10


nonsyndromic congenital nail disorder 3

Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.


Hodgkin's lymphoma, lymphocytic-histiocytic predominance

A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)


pericardial effusion, chronic

Chronic form of pericardial effusion (disease).


childhood gonadal germ cell tumor

A germ cell tumor that arises from the testis or ovary and occurs during childhood.


auditory agnosia

An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.


primitive neuroectodermal tumor of the cervix uteri

Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.


primary ciliary dyskinesia 27

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.


paraneoplastic neurologic syndrome

A paraneoplastic syndrome that involves the nervous system.


SBDS-related severe neonatal spondylometaphyseal dysplasia


congenital pseudoarthrosis of the radius


mitochondrial complex 1 deficiency, nuclear type 24


combined dystonia

A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).


isolated cleft palate

A cleft palate that is not part of a larger syndrome.


benign peritoneal solitary fibrous tumor

A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.


Weill-Marchesani syndrome 2, dominant

A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.


intellectual disability, autosomal recessive 43

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.


atrial fibrillation, familial, 11

Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.


generalized pustular psoriasis

A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.


Yunis-Varon syndrome

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


acute mountain sickness

Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.


maternal uniparental disomy of chromosome 16


metaphyseal chondrodysplasia, Spahr type


sickle cell disease associated with an other hemoglobin anomaly


gonococcal spondylitis

An spondylitis caused by infection with Neisseria gonorrhoeae.


trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.


autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


melanoma associated retinopathy

Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.


encephalocraniocutaneous lipomatosis

A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.


rabies

Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.


imperforate oropharynx-costo vetebral anomalies syndrome

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.


caudal regression sequence

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.


Seckel syndrome 7

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.


T-B+ severe combined immunodeficiency

T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.


cranial neuralgia

A neuralgia that involves the cranial neuron projection bundle.


myopathy, myofibrillar, 9, with early respiratory failure


Joubert syndrome 15

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.


encephalomyelitis

Inflammation of the brain and the spinal cord.


Wallerian degeneration

A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.


advanced sleep phase syndrome 3

Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.


blepharophimosis - intellectual disability syndrome, MKB type

The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.


Bjornstad syndrome

Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.


malignant peritoneal solitary fibrous tumor

A malignant form of peritoneal solitary fibrous tumor.


congenital bile acid synthesis defect 3

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.


severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.


lysosomal lipid storage disorder

An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.


short-rib thoracic dysplasia 8 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.


galactose epimerase deficiency

Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.


neurodevelopmental disorder with hypotonia, neuropathy, and deafness


Keutel syndrome

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.


congenital disorder of glycosylation, type Ibb


familial porencephaly

An instance of porencephaly that is caused by an inherited modification of the individual's genome.


mitochondrial DNA depletion syndrome, hepatocerebral form


hookworm infectious disease

Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.


variant ABeta2M amyloidosis

A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.


early congenital syphilis

A congenital syphilis that is manifested between 0 and 2 years old.


combined oxidative phosphorylation defect type 17

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.


Doyne honeycomb retinal dystrophy

Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.


trigonocephaly 2

Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.


spermatogenic failure 12

Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.


skull neoplasm

A benign or malignant neoplasm that affects the bones and structures of the skull.


helicoid peripapillary chorioretinal degeneration

Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.


microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.


trisomy 10p

Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.


hypotonia, infantile, with psychomotor retardation and characteristic facies

A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).


intellectual disability, X-linked 19

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.


combined oxidative phosphorylation deficiency 45


immunodeficiency 67

An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.


Gaisbock syndrome

Polycythemia that is caused by stress.


CPOX-related hereditary coproporphyria

Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.


phosphoenolpyruvate carboxykinase deficiency, mitochondrial


atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


brain hypoxia - ischemia

A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.


autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


nephrogenic syndrome of inappropriate antidiuresis

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.


inherited dystonia

An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.


hypercarotenemia and vitamin A deficiency, autosomal recessive


plantar nerve lesion

A peripheral nerve lesion that involves the plantar nerve.


null syndrome

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.


idiopathic hypersomnia

Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.


Bietti crystalline corneoretinal dystrophy

Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.


hereditary spastic paraplegia 11

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.


D-glyceric aciduria

A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.


hypotrichosis simplex

Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.


cutaneous porphyria

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.


Singleton-Merten dysplasia

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).


osteogenesis imperfecta, type 19

An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.


trachea leiomyoma

A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


coloboma of macula-brachydactyly type B syndrome

Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.


accessory tricuspid valve tissue

Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.


isolated punctate palmoplantar keratoderma

A punctate palmoplantar keratoderma that is not part of a larger syndrome.


glycine metabolism disease

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


thinking seizures

Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.


Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.


epidermolysis bullosa simplex 2F, with mottled pigmentation

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.


oculocerebrocutaneous syndrome

Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.


acral persistent papular mucinosis

Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.


neuronal ceroid lipofuscinosis

A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.


Tay-Sachs disease, b variant, juvenile form


microcephaly-cardiac defect-lung malsegmentation syndrome

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.


spontaneous periodic hypothermia

Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.


central nervous system AIDS arteritis

Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.


acute basophilic leukemia

A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.


gender identity disorder

A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery).


Charcot-Marie-Tooth disease, demyelinating, IIA 1I


autosomal recessive spastic paraplegia type 76

Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.


acid sphingomyelinase deficiency

An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.


cortical dysplasia, complex, with other brain malformations 11


allergic contact dermatitis of eyelid

A allergic contact dermatitis that involves the eyelid.


fatty acid hydroxylase-associated neurodegeneration

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.


PPARG-related familial partial lipodystrophy


isolated congenital hypogonadotropic hypogonadism

A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.


hereditary disorder of connective tissue

An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.


congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.


mandibuloacral dysplasia

Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.


calcium-alkali syndrome

The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.


symptomatic form of hemophilia A in female carriers

A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.


neurodegeneration with brain iron accumulation 7


Colorado tick fever

A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.


neuronal ceroid lipofuscinosis, late infantile


neuropathy, congenital hypomyelinating, 3


autosomal recessive nonsyndromic hearing loss 35

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


distal myopathy, Tateyama type

Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.


mite infestation

Infestations with arthropods of the subclass acari, superorder Acariformes.


anterior segment dysgenesis 7

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.


non-syndromic non-specific multisutural craniosynostosis


hereditary spastic paraplegia 74

Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.


inborn disorder of methionine cycle and sulfur amino acid metabolism

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


autosomal recessive limb-girdle muscular dystrophy type 2G

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.


contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


short-rib thoracic dysplasia 17 with or without polydactyly


vertebral joint disorder

A disease that involves the intervertebral joint.


infectious epithelial keratitis

Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.


erythrokeratoderma en cocardes

Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.


formiminoglutamic aciduria

Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.


accessory nerve disorder

A disease involving the accessory XI nerve.


chromosome 15q26-qter deletion syndrome

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.


immunoglobulin A deficiency 2

Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.


Meckel syndrome, type 1

Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.


pediatric multiple sclerosis

Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.


brain small vessel disease 3

An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.


combined oxidative phosphorylation deficiency 47


basal ganglia calcification, idiopathic, childhood-onset


optic perineuritis

A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.


spastic paraplegia 88, autosomal dominant


RYR1-related myopathy

A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.


adenomyoma

A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.


Drachtman Weinblatt Sitarz syndrome

A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.


uterine corpus sarcoma

A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.


cystitis cystica

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


spastic cerebral palsy

A form of cerebral palsy wherein spasticity is the exclusive impairment present.


genetic hypoparathyroidism

Genetic hypoparathyroidism.


rheumatic pulmonary valve disease

A rheumatologic disorder that involves the pulmonary valve.


immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


autosomal recessive pure spastic paraplegia

Autosomal recessive form of pure hereditary spastic paraplegia.


hyperprolinemia type 2

Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


cleft lip and alveolus

Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.


neurodevelopmental disorder with cerebellar atrophy and with or without seizures


ring chromosome disorder

Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.


RDH12-related dominant retinopathy

A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.


orbit lymphoma

A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.


nosophobia

A specific phobia that involves an irrational fear of contracting a disease.


fatal infantile hypertonic myofibrillar myopathy


prolidase deficiency

An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.


ring chromosome 12

Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.


advanced sleep phase syndrome 2

Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.


intellectual disability, autosomal dominant 47


microcephaly 24, primary, autosomal recessive


foveal hypoplasia-presenile cataract syndrome


chromosome 1q41-q42 deletion syndrome

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.


mycosis fungoides and variants

Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.


serine biosynthesis pathway deficiency, infantile/juvenile form


acquired xanthinuria

Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.


distal myopathy

Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.


autosomal recessive secondary polycythemia not associated with VHL gene


epiphysiolysis of the hip

Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).


bone development disease

A disease involving the bone development.


short-rib thoracic dysplasia 21 without polydactyly


partial duplication of the long arm of chromosome 15

Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


hypogonadotropic hypogonadism 15 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.


spondyloepiphyseal dysplasia, nishimura type


syndactyly-telecanthus-anogenital and renal malformations syndrome

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.


immunodeficiency 18

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.


RP1-related dominant retinopathy

An inherited retinopathy caused by bi-allelic variants in the RP1 gene.


autosomal recessive nonsyndromic hearing loss 12

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.


spondyloepimetaphyseal dysplasia, Krakow type


Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.


simultanagnosia

An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.


Weill-Marchesani syndrome 1

Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.


adult fibrosarcoma

A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.


splenic hodgkin lymphoma

A rare Hodgkin lymphoma that arises from the spleen.


pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


pseudodiastrophic dysplasia

Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.


progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.


flying phobia

An overwhelming, irrational, and persistent fear of traveling in an aircraft.


progressive bifocal chorioretinal atrophy

Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.


benign neoplasm of lymph node

A benign neoplasm that involves the lymph node.


familial cold autoinflammatory syndrome 4

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.


SchC6pf-Schulz-Passarge syndrome

A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


hereditary photodermatosis

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


Wernicke encephalopathy

An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


benign neoplasm of major salivary gland

A benign neoplasm that involves the major salivary gland.


postaxial polydactyly type B, unilateral


X-linked recessive ocular albinism

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


acrocapitofemoral dysplasia

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


intellectual disability, autosomal dominant 24

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.


autosomal recessive nonsyndromic hearing loss 61

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.


adrenocortical hypofunction, chronic primary congenital


agammaglobulinemia 2, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.


catamenial pneumothorax

Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


acute mast cell leukemia

A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


aspirin-induced respiratory disease

An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


mitochondrial complex 1 deficiency, nuclear type 18


osteomesopyknosis

Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.


chromosome 7 disorder

Chromosomal disorder in which chromosome 7 is affected.


acinar dysplasia caused by mutation in FGFR2

Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.


gonadal agenesis

A congenital disorder characterized by the complete absence of gonadal tissue.


humerus trochlea aplasia

Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.


spinal arachnoiditis

A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.


Seckel syndrome 2

Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


retinal dystrophies primarily involving Bruch's membrane

A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.


KCNH1 associated disorder

Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

An osteogenesis imperfecta found in a single South African family.


persistent hyperplastic primary vitreous, autosomal recessive

Autosomal recessive form of persistent hyperplastic primary vitreous.


bladder dome cancer

Cancer of the upper, convex surface of the bladder.


familial primary hypomagnesemia with hypocalcuria


autosomal recessive spastic paraplegia type 82


mesothelioma

A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.


classic homocystinuria

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


acute myeloid leukemia, WT1 gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


Klippel-Feil syndrome 2, autosomal recessive

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.


fish disease

Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).


musculoskeletal system benign neoplasm

A benign neoplasm that involves the musculoskeletal system.


qualitative or quantitative defects of dystrophin


polyomavirus infectious disease

Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


essential iris atrophy

Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.


congenital analbuminemia

Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).


DDOST-congenital disorder of glycosylation

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).


otopalatodigital syndrome type 2

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


renal tubular dysgenesis due to twin-twin transfusion

An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


lethal congenital glycogen storage disease of heart

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.


lumbar disc disease

A vertebral column disorder caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.


Treponema infectious disease

An disease caused by infection with Treponema.


X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.


spinocerebellar ataxia type 13

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.


malignant syringoma

A malignant form of syringoma.


adult malignant mesenchymoma

A malignant mesenchymoma occurring in adults.


autoimmune hemolytic anemia, warm type

Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).


acute myeloid leukemia, t(10;11)(p11.2;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


hereditary spastic paraplegia 41

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.


glycogen storage disease due to aldolase A deficiency

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.


western equine encephalitis

An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.


polymorphous low grade neuroepithelial tumour of the young

A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


scrotum cancer

A primary or metastatic malignant neoplasm affecting the scrotum.


segmental odontomaxillary dysplasia

Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


mandibulofacial dysostosis with alopecia

A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


hereditary motor and sensory neuropathy

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


acral self-healing collodion baby

Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.


congenital pulmonary airway malformation type 4


Smith-McCort dysplasia

Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.


Hailey-Hailey disease

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).


autosomal recessive nonsyndromic hearing loss 83

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


bizarre leiomyoma

A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.


absent thumb-short stature-immunodeficiency syndrome

An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.


scapuloperoneal spinal muscular atrophy, autosomal recessive


acute myeloid leukemia, monoallelic CEBPA gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


specific granule deficiency 2

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).


spastic ataxia-corneal dystrophy syndrome

Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.


brachydactyly type A7

Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.


inborn disorder of ornithine metabolism

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


postprandial hypotension

Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines.


Filippi syndrome

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.


hypothalamic disorder

Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


acute disseminated encephalomyelitis

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.


optic nerve neoplasm

Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.


IDH3B-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


inherited primary ovarian failure

An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.


mitochondrial complex III deficiency, nuclear type


Riley-Day syndrome

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


amyotrophic lateral sclerosis type 9

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


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


skeletal fluorosis

A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.


spondyloepiphyseal dysplasia, Cantu type

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).


allergic respiratory disease

A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.


familial partial lipodystrophy, Kobberling type

Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


X-linked dystonia-parkinsonism

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.


pentosuria

Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.


BH4-deficient hyperphenylalaninemia A

An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.


ciliary dyskinesia with excessively long cilia


HTRA1-related cerebral small vessel disease


neuronal ceroid lipofuscinosis 13

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


fungal discitis

Discitis caused by infection with fungi.


pericoronitis

Inflammation of the gingiva surrounding the crown of a tooth.


peeling skin syndrome type A

Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.


vestibular ataxia

Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.


obesity due to congenital leptin deficiency

Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.


non-distal monosomy 10q

Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.


autosomal dominant isolated diffuse palmoplantar keratoderma

Autosomal dominant form of isolated diffuse palmoplantar keratoderma.


paranoid schizophrenia

A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


toxocara canis infection (canine roundworms)


ocular cystinosis

Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.


secondary antiphospholipid syndrome

An antiphospholipid syndrome that occurs alongside another autoimmune disorder.


IgG4-related dacryoadenitis and sialadenitis

IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.


intradermal nevus

A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.


dissociative amnesia

A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.


dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.


recombinase activating gene 1 deficiency

A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


odonto-onycho-dermal dysplasia

A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.


benign neoplasm of prostate

A benign neoplasm that involves the prostate gland.


epidermolysis bullosa simplex 5C, with pyloric atresia

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.


epidermolysis bullosa simplex 2C, localized


leukoplakia

A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.


Quebec platelet disorder

Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.


mixed neoplasm

A neoplasm composed of at least two distinct cellular populations.


sleep disorder, initiating and maintaining sleep


FADD-related immunodeficiency

A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.


Brugada syndrome 3

Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.


trichostrongyloidiasis

Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.


neonatal-onset severe multisystemic autoinflammatory disease with increased IL18


deafness-infertility syndrome

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.


undifferentiated pleomorphic sarcoma, inflammatory variant

An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.


Revesz syndrome

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.


FNIP1-associated syndrome

Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.


hypotrichosis 7

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


CANOMAD syndrome

CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.


familial abdominal aortic aneurysm

An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.


chromosome 19 disorder

Chromosomal disorder in which chromosome 19 is affected.


Mills syndrome

A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.


hypomyelinating leukodystrophy 6

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.


lymphoproliferative syndrome 2

Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.


palmoplantar keratoderma, nonepidermolytic, focal 1

Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.


hereditary spastic paraplegia 15

Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.


Charcot-Marie-Tooth disease, demyelinating, type 1G

A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.


titinopathy with congenital contractures

A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.


Langerhans cell histiocytosis specific to childhood

Langerhans cell histiocytosis that occurs during childhood.


infantile-onset generalized dyskinesia with orofacial involvement


iliac vein thrombophlebitis

A thrombophlebitis that involves the iliac vein.


46,XX disorder of sex development induced by fetoplacental androgens excess


calpain-3-related limb-girdle muscular dystrophy D4


hereditary spastic paraplegia 5A

Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.


bilateral renal agenesis

Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.


genetic skin disorder

An instance of skin disease that is caused by a modification of the individual's genome.


spondyloperipheral dysplasia

A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterised by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.


non-neoplastic nevus

A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.


urinary schistosomiasis

A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.


EWSR1-negative small round cell tumor

A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.


Echovirus infectious disease

Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.


atrophic muscular disease

A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.


leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


neonatal jaundice due to ABO incompatibility

Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.