description: Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.


otofacioosseous-gonadal syndrome

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


thrombocythemia 2

description: Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.


name: hyperzincemia with functional zinc depletion


Friedreich ataxia 2

description: Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11


intestinal hypomagnesemia 1

description: Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.


ectodermal dysplasia 4, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.


name: infantile convulsions and choreoathetosis

description: A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.


name: leishmaniasis, tegumentary, susceptibility to

description: Increased susceptibility to infection by the protozan parasite of the genus Leishmania.


name: fibrosis of extraocular muscles, congenital, 2

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.


trimethylaminuria

description: A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


Thiel-Behnke corneal dystrophy

description: Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.


Usher syndrome type 1F

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


name: arrhythmogenic right ventricular dysplasia 3

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.


name: arrhythmogenic right ventricular dysplasia 4

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.


nephronophthisis 2

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


capillary infantile hemangioma

description: Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover.


name: autosomal recessive nonsyndromic hearing loss 18A

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.


cone dystrophy 3

description: Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.


Usher syndrome type 1E

description: A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.


amyotrophic lateral sclerosis type 5

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


hereditary thermosensitive neuropathy

description: Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.


name: spondyloepimetaphyseal dysplasia, Missouri type

description: A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.


name: nephropathy, progressive tubulointerstitial, with cholestatic liver disease


torsion dystonia 7

description: A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.


RHYNS syndrome

description: RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.


name: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies


name: medium chain 3-ketoacyl-Coa thiolase deficiency


name: ventriculomegaly with defects of the radius and kidney


malignant atrophic papulosis

description: Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.


name: progeroid facial appearance with hand anomalies


name: mitochondrial intermembrane space protein Tim12, yeast, homolog of


axial spondylometaphyseal dysplasia

description: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


name: sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth


Pierpont syndrome

description: Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.


name: progressive familial intrahepatic cholestasis type 3

description: Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.


osteocraniostenosis

description: Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.


hemochromatosis type 2A

description: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.


desmosterolosis

description: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


name: autosomal recessive congenital ichthyosis 11


amyotrophic lateral sclerosis type 4

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.


monomelic amyotrophy

description: Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.


name: severe combined immunodeficiency due to DCLRE1C deficiency

description: Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.


name: autosomal dominant nonsyndromic hearing loss 15

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.


name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


name: creases, infra-auricular cutaneous, with tall stature and advanced bone age


ethylmalonic encephalopathy

description: Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.


name: ossification of the posterior longitudinal ligament of the spine

description: A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.


migraine, familial hemiplegic, 2

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.


Axenfeld-Rieger syndrome type 3

description: Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.


auriculocondylar syndrome 1

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.


name: pelvic dysplasia-arthrogryposis of lower limbs syndrome


name: hyperinsulinism due to glucokinase deficiency

description: Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.


hyperlipidemia, combined, 1

description: An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene.


name: chondrodysplasia punctata, brachytelephalangic, autosomal


description: A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.


name: pseudoacromegaly with severe insulin resistance


Bartter disease type 4A

description: Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.


grange syndrome

description: Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.


Marshall-Smith syndrome

description: Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.


name: ichthyosis, hystrix-like, with hearing loss


name: megaconial type congenital muscular dystrophy


distal monosomy 13q

description: Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.


torsion dystonia with onset in infancy

description: A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.


name: microcephaly, macrotia, and intellectual disability


name: facial dysmorphism, cleft palate, hearing loss, and camptodactyly


name: spondyloepimetaphyseal dysplasia, Shohat type

description: A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.


craniomicromelic syndrome

description: Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.


name: brachydactyly, intraventricular septal defect, and deafness


name: emphysema, congenital, with deafness, penoscrotal web, and intellectual disability


name: MPI-congenital disorder of glycosylation

description: MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).


branchiootic syndrome 1

description: Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.


retinitis pigmentosa 22

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.


pancreatic lymphoma, familial

description: An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.


name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

description: A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

description: A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).


name: skeletal dysplasia and progressive central nervous system degeneration, lethal


torsion dystonia 6

description: Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.


myotonic dystrophy type 2

description: Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.


name: intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration


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


psoriasis 2

description: Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.


rigid spine muscular dystrophy 1

description: An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.


retinitis pigmentosa 25

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.


H syndrome

description: A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).


Muenke syndrome

description: Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.


name: acromesomelic dysplasia 1, Maroteaux type

description: A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.


name: autosomal recessive nonsyndromic hearing loss 17

description: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.


schizophrenia 6

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.


congenital myasthenic syndrome 5

description: Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.


astigmatism

description: Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)


age related macular degeneration 1

description: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.


name: autosomal recessive nonsyndromic hearing loss 13

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.


description: Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).


name: spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal


name: dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability


name: ALG6-congenital disorder of glycosylation 1C

description: A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).


dermatitis, atopic

description: Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.


schizophrenia 5

description: A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.


schizophrenia 7

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


Meckel syndrome, type 2

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


name: autosomal dominant nocturnal frontal lobe epilepsy 2

description: An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.


schizophrenia 8

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


Huntington disease-like 1

description: Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.


pseudohypoparathyroidism type 1B

description: Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.


type 1 diabetes mellitus 17

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.


focal segmental glomerulosclerosis 1

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


cerebral cavernous malformation 2

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.


cerebral cavernous malformation 3

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.


name: muscular dystrophy, congenital, with cerebellar atrophy


schizophrenia 2

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.


GRACILE syndrome

description: GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).


name: long chain fatty acids, defect in transport of


name: thyroid carcinoma, nonmedullary, with or without cell oxyphilia


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.


name: Osebold skeletal dysplasia/osteolysis syndrome


name: osteosclerotic chondrodysplasia, lethal, with intracellular inclusions


name: microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects


description: An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.


name: Oroacral syndrome, Verloes-Koulischer type


name: arhinia, choanal atresia, and microphthalmia


Fanconi anemia complementation group F

description: Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.


citrullinemia, type II, adult-onset

description: Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.


neuronal intranuclear inclusion disease

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


spinocerebellar ataxia type 10

description: Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.


congenital chylothorax

description: Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.


name: Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin


limb-mammary syndrome

description: Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.


name: spondyloepimetaphyseal dysplasia with multiple dislocations

description: A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.


name: familial hemophagocytic lymphohistiocytosis 4

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.


name: familial hemophagocytic lymphohistiocytosis 2

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


Omenn syndrome

description: An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).


hereditary spastic paraplegia 8

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.


name: microcephaly, facial abnormalities, micromelia, and intellectual disability


name: SLC35A1-congenital disorder of glycosylation

description: SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.


name: follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts


name: facial dysmorphism, selective tooth agenesis, and choroid calcification


xanthinuria type II

description: Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.


non-syndromic polydactyly

description: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.


name: autosomal dominant nonsyndromic hearing loss 17

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.


name: autosomal recessive nonsyndromic hearing loss 21

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


name: neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia


name: atrial septal defect, secundum, with various cardiac and Noncardiac defects


name: situs inversus totalis with cystic dysplasia of kidneys and pancreas


cone-rod dystrophy 7

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.


exostosis, Dupuytren subungual

description: A benign tumor that affects the distal phalanx, most often the great toe. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone. Pain and swelling are present. Simple resection is usually curative.


name: eccrine syringofibroadenomatosis with eyelid abnormalities


acromelic frontonasal dysostosis

description: Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.


name: autosomal recessive nonsyndromic hearing loss 14

description: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.


name: prostate cancer/brain cancer susceptibility


name: myopathy, myofibrillar, 9, with early respiratory failure


name: diabetes mellitus, noninsulin-dependent, 3


name: autosomal recessive nonsyndromic hearing loss 16

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


name: blepharophimosis - intellectual disability syndrome, SBBYS type

description: Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.


ovarian germ cell tumor

description: A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.


name: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia

description: A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.


papillary thyroid Microcarcinoma

description: A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.


name: hypercholesterolemia, autosomal dominant, 3

description: Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.


Stargardt disease 4

description: Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.


hydroa vacciniforme, familial

description: An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.


name: microcephaly with simplified gyral pattern


name: urinary tract infections, recurrent, susceptibility to


hypercholesterolemia, familial, 4

description: An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.


name: ventricular fibrillation, paroxysmal familial, type 1


long QT syndrome 3

description: An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


dominant beta-thalassemia

description: Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.


sickle cell anemia

description: Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.


name: autoimmune lymphoproliferative syndrome type 2A

description: A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.


name: hypertension, essential, susceptibility to, 1


name: intervertebral disk degenerative disorder

description: Any disease of a degenerative nature that affects the intervertebral disk.


name: microvascular complications of diabetes, susceptibility to, 1

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene.


name: autosomal dominant nonsyndromic hearing loss 16

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.


focal segmental glomerulosclerosis 2

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.


name: megalencephalic leukoencephalopathy with subcortical cysts

description: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.


name: autosomal recessive nonsyndromic hearing loss 20

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


hypoalphalipoproteinemia, primary, 1

description: Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.


cone-rod dystrophy 3

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.


loricrin keratoderma

description: A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.


name: autosomal dominant cerebellar ataxia, deafness and narcolepsy

description: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


name: dystrophic epidermolysis bullosa pruriginosa

description: Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.


alpha thalassemia spectrum

description: An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.


dilated cardiomyopathy 1G

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


name: Alzheimer disease without neurofibrillary tangles


name: congenital cataracts-facial dysmorphism-neuropathy syndrome

description: Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.


left ventricular noncompaction 1

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.


poikiloderma with neutropenia

description: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.


name: facial paresis, hereditary congenital, 2


hereditary spastic paraplegia 10

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


name: hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection


name: Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly


name: familial encephalopathy with neuroserpin inclusion bodies


cataract 9 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.


Peters anomaly

description: Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.


Leber congenital amaurosis 3

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.


name: generalized epilepsy with febrile seizures plus, type 1


hemochromatosis type 3

description: Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


name: short stature due to partial GHR deficiency

description: Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.


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

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


name: autosomal recessive proximal renal tubular acidosis

description: Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


name: autosomal recessive limb-girdle muscular dystrophy type 2E

description: Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.


Carney triad

description: Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.


dilated cardiomyopathy 1H

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.


aceruloplasminemia

description: An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


name: Ascaris lumbricoides infection, susceptibility to


name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

description: Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.


juvenile idiopathic arthritis

description: Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).


pulverulent cataract

description: A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.


MASS syndrome

description: A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.


name: blepharophimosis - intellectual disability syndrome, Verloes type


name: anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome


name: microcephaly 2, primary, autosomal recessive, with or without cortical malformations


name: autosomal recessive distal spinal muscular atrophy 1

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


name: microcephaly 4, primary, autosomal recessive


acne

description: An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.


spinocerebellar ataxia type 12

description: Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.


name: hypertension, essential, susceptibility to, 2


complex regional pain syndrome type 1

description: Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.


advanced sleep phase syndrome 1

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.


febrile seizures, familial, 4

description: Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.


Duane retraction syndrome 2

description: Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.


hereditary spastic paraplegia 11

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


name: myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders


name: PPARG-related familial partial lipodystrophy


Salla disease

description: Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.


name: breast-ovarian cancer, familial, susceptibility to, 1

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.


hypotrichosis 7

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


name: ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia


name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

description: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.


name: lissencephaly, familial, with cleft palate and cerebellar hypoplasia


nephronophthisis 3

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.


ataxia-telangiectasia-like disorder

description: An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.


Leber congenital amaurosis 4

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.


name: arrhythmogenic right ventricular dysplasia 5

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.


name: arrhythmogenic right ventricular dysplasia 6

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.


name: generalized epilepsy with febrile seizures plus, type 2

description: Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.


name: pyogenic arthritis-pyoderma gangrenosum-acne syndrome

description: A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.


name: polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive

description: A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.


spinocerebellar ataxia type 11

description: Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.


infundibulocystic basal cell carcinoma

description: A rare type of basal cell carcinoma. It is characterized by multiple tiny cysts lined by infundibular epithelium.


distal myopathy, Welander type

description: Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.


name: hereditary motor and sensory neuropathy, Okinawa type

description: Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.


inflammatory bowel disease 3

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.


name: epidermolysis bullosa simplex due to plakophilin deficiency

description: Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.


Leber congenital amaurosis 5

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


name: progressive familial heart block type IB

description: Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.


Charcot-Marie-Tooth disease type 4B2

description: Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.


MHC class I deficiency

description: Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.


tooth agenesis, selective, 3

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


name: growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia


name: postural orthostatic tachycardia syndrome

description: A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.


name: autosomal dominant nonsyndromic hearing loss 20

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.


craniosynostosis 2

description: A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.


dilated cardiomyopathy 1I

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.


name: catecholaminergic polymorphic ventricular tachycardia 1

description: Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.


name: autosomal recessive congenital ichthyosis 5

description: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.


congenital muscular dystrophy 1B

description: Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.


Huntington disease-like 3

description: Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.


name: microcephaly 3, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.


hereditary spastic paraplegia 12

description: Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.


diffuse panbronchiolitis

description: Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis


name: epilepsy, idiopathic generalized, susceptibility to, 7


name: mandibulofacial dysostosis syndrome, Bauru type


Stickler syndrome type 2

description: Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).


name: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

description: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.


name: hereditary North American Indian childhood cirrhosis

description: Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.


schizophrenia 9

description: A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.


Becker nevus syndrome

description: Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.


name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

description: Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.


Wolfram syndrome 2

description: Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.


cortisone reductase deficiency 1

description: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.


NDE1-related microhydranencephaly

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


familial hypobetalipoproteinemia 2

description: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.


name: diabetes mellitus, congenital autoimmune


name: low density lipoprotein cholesterol, mild elevation of


Bohring-Opitz syndrome

description: Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.


name: clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia


Brooke-Spiegler syndrome

description: Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.


name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


tricuspid atresia

description: Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).


pseudohyperaldosteronism type 2

description: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.


Wiedemann-Steiner syndrome

description: Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.


name: autosomal dominant nonsyndromic hearing loss 23

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.


name: systemic lupus erythematosus, susceptibility to, 2


inflammatory bowel disease 7

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.


hereditary spastic paraplegia 14

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.


description: Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.


Charcot-Marie-Tooth disease type 4E

description: Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.


hyper-IgM syndrome type 2

description: A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.


spinocerebellar ataxia type 13

description: 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.


mesomelic dysplasia, Savarirayan type

description: Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.


Noonan syndrome 2

description: Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1.


hereditary spastic paraplegia 13

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.


temtamy preaxial brachydactyly syndrome

description: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


Charcot-Marie-Tooth disease type 4G

description: Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.


split hand-foot malformation 4

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


macrocephaly-autism syndrome

description: An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.


nemaline myopathy 5

description: Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.


spinocerebellar ataxia type 14

description: Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.


dilated cardiomyopathy 1J

description: An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.


paragangliomas 3

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.


name: autosomal dominant nocturnal frontal lobe epilepsy 3

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.


cataract 31 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.


name: cerebral palsy, ataxic, autosomal recessive


hypotrichosis 1

description: Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.


name: fibromatosis, gingival, with hypertrichosis and intellectual disability


TH-deficient dopa-responsive dystonia

description: Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.


schizophrenia 10

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.


name: autosomal recessive nonsyndromic hearing loss 26

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.


name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

description: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).


name: basal cell carcinoma, susceptibility to, 1


name: radiation sensitivity/chromosome instability syndrome, autosomal dominant


Usher syndrome type 2C

description: A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.


name: benign recurrent intrahepatic cholestasis type 2


name: systemic lupus erythematosus, susceptibility to, 3


Alzheimer disease 6

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.


autosomal dominant Parkinson disease 4

description: A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.


cone-rod dystrophy 8

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.


name: abdominal obesity-metabolic syndrome quantitative trait locus 2


dilated cardiomyopathy 1K

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.


name: autosomal dominant nonsyndromic hearing loss 25

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


Charcot-Marie-Tooth disease type 2B1

description: Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.


Charcot-Marie-Tooth disease type 2B2

description: 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.


name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


type 1 diabetes mellitus 18

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.


name: tetralogy of fallot syndrome, autosomal recessive


cerebrooculonasal syndrome

description: Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.


familial hyperaldosteronism type II

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


name: familial papillary thyroid carcinoma with renal papillary neoplasia

description: Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC).


late-onset retinal degeneration

description: Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.


name: cerebellar ataxia and hypergonadotropic hypogonadism


name: arrhythmogenic cardiomyopathy with wooly hair and keratoderma

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


name: multiple mitochondrial dysfunctions syndrome 1

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.


name: cerebral amyloid angiopathy, APP-related

description: A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.


Fanconi anemia complementation group D1

description: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


name: autosomal recessive distal spinal muscular atrophy 2

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


cataract 25

description: A cataract that has material basis in variation in the region 15q21-q22.


platelet-type bleeding disorder 12

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.


anisomastia

description: The presence of asymmetrical breasts.


cataract 26 multiple types

description: A cataract that has material basis in variation in the region 9q13-q22.


name: ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis


dermatitis, atopic, 2

description: An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene.


dermatitis, atopic, 3

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p.


dermatitis, atopic, 4

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3.


birdshot chorioretinopathy

description: Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.


congenital myasthenic syndrome 4A

description: A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.


name: neonatal intrahepatic cholestasis due to citrin deficiency

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


name: autosomal recessive nonsyndromic hearing loss 27

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.


GNE myopathy

description: Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.


spondylo-ocular syndrome

description: Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.


name: generalized basaloid follicular hamartoma syndrome

description: Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.


dermatitis, atopic, 5

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14.


dermatitis, atopic, 6

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33.


description: An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting


glycine encephalopathy

description: Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


name: autosomal recessive early-onset Parkinson disease 6

description: Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.


description: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


holoprosencephaly 6

description: A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.


name: liver fibrocystic disease and polydactyly


name: metaphyseal dysplasia, Braun-Tinschert type

description: Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.


acropectoral syndrome

description: Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.


name: nephrolithiasis, uric acid, susceptibility to


transaldolase deficiency

description: Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.


name: autosomal dominant nonsyndromic hearing loss 18

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


name: acromegaloid features, overgrowth, cleft palate, and hernia


propionic acidemia

description: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


name: MOGS-congenital disorder of glycosylation

description: MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).


retinitis pigmentosa 28

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.


hemochromatosis type 4

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


amyotrophic lateral sclerosis type 21

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.


name: Charcot-Marie-Tooth disease axonal type 2C

description: Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.


rippling muscle disease

description: A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch


neuroferritinopathy

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


name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.


genitopatellar syndrome

description: Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.


carnitine acetyltransferase deficiency

description: A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.


pars planitis

description: An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.


name: laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy


Alzheimer disease 7

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.


name: atrioventricular septal defect, susceptibility to, 2

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.


name: intellectual disability, short stature, facial anomalies, and joint dislocations


Phelan-McDermid syndrome

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


name: intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism


alveolar soft part sarcoma

description: An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.


name: autosomal dominant nonsyndromic hearing loss 24

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.


name: autosomal recessive early-onset Parkinson disease 7

description: Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.


name: autosomal dominant nonsyndromic hearing loss 22

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


inflammatory bowel disease 5

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.


pathological gambling

description: A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.


juvenile primary lateral sclerosis

description: Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.


name: maturity-onset diabetes of the young type 4

description: Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.


name: maturity-onset diabetes of the young type 6

description: Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.


hypotonia-cystinuria syndrome

description: A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.


name: Ehlers-Danlos syndrome due to tenascin-X deficiency


Huntington disease-like 2

description: Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.


name: persistent polyclonal B-cell lymphocytosis

description: Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.


name: autosomal dominant nonsyndromic hearing loss 30

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


name: Charcot-Marie-Tooth disease dominant intermediate B

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.


name: Charcot-Marie-Tooth Disease, axonal, type 2GG

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.


PHACE syndrome

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


name: craniosynostosis syndrome, autosomal recessive

description: Autosomal recessive form of craniosynostosis.


name: autosomal recessive congenital ichthyosis 3

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.


episodic ataxia type 4

description: Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.


episodic ataxia type 3

description: Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.


oculocutaneous albinism type 4

description: Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.


name: vitiligo-associated multiple autoimmune disease susceptibility 1


DNA ligase IV deficiency

description: LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).


name: Charcot-Marie-Tooth disease axonal type 2F

description: Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


name: muscular dystrophy-dystroglycanopathy type B5

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.


Camurati-Engelmann disease, type 2

description: Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: glaucoma, normal tension, susceptibility to


spinocerebellar ataxia type 15/16

description: Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.