Johanson-Blizzard syndrome

description: A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.


transaldolase deficiency

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

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 recessive nonsyndromic hearing loss 28

description: An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.


lissencephaly due to TUBA1A mutation

description: Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.


name: macrocephaly/megalencephaly syndrome, autosomal recessive


cerebellar-facial-dental syndrome

description: A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.


Loeys-Dietz syndrome 1

description: A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.


name: Multiple self-healing squamous epithelioma


name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6


Loeys-Dietz syndrome 2

description: A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.


name: catecholaminergic polymorphic ventricular tachycardia 3

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.


name: microphthalmia, isolated, with coloboma 9

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.


tremor, hereditary essential, 5

description: Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.


orofaciodigital syndrome IV

description: Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


Joubert syndrome 18

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.


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.


Joubert syndrome 23

description: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.


name: short-rib thoracic dysplasia 14 with polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


name: nephrolithiasis, uric acid, susceptibility to


Loeys-Dietz syndrome 4

description: Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.


uncombable hair syndrome 2

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.


name: combined oxidative phosphorylation deficiency 29

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


primary ciliary dyskinesia 19

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.


name: TMEM165-congenital disorder of glycosylation

description: TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).


name: microcephaly, short stature, and impaired glucose metabolism 1


hypertrophic cardiomyopathy 7

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


cardiomyopathy, familial restrictive, 1

description: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


dilated cardiomyopathy 2A

description: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.


dilated cardiomyopathy 1FF

description: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.


nemaline myopathy 5

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


name: congenital amegakaryocytic thrombocytopenia 1

description: A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.


thrombocythemia 2

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


primary myelofibrosis

description: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.


Sorsby fundus dystrophy

description: A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.


name: immunodeficiency 83, susceptibility to viral infections

description: An inherited susceptibility or predisposition to developing viral infections.


ghosal hematodiaphyseal dysplasia

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


name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type

description: Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.


hyper-IgM syndrome type 3

description: A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.


name: familial episodic pain syndrome with predominantly upper body involvement


name: hypogonadotropic hypogonadism 10 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.


spinocerebellar ataxia type 21

description: Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.


name: systemic lupus erythematosus, susceptibility to, 1

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.


name: autosomal recessive nonsyndromic hearing loss 63

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


name: combined immunodeficiency due to OX40 deficiency

description: Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.


triosephosphate isomerase deficiency

description: Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.


name: multiple cutaneous and mucosal venous malformations

description: Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.


nephronophthisis-like nephropathy 1

description: Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.


deafness dystonia syndrome

description: An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.


name: autosomal recessive limb-girdle muscular dystrophy type R18

description: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


name: mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

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


congenital nongoitrous hypothyroidism 6

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.


hypertrophic cardiomyopathy 25

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.


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

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


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

description: A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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


Charcot-Marie-Tooth disease type 2Y

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


Meckel syndrome, type 8

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.


Joubert syndrome 24

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.


name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2

description: Dyskeratosis congenita caused by mutation(s) in the TERT gene, encoding telomerase reverse transcriptase.


name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

description: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.


name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9


name: arrhythmogenic right ventricular dysplasia 1

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.


Rienhoff syndrome

description: Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.


McLeod neuroacanthocytosis syndrome

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


IRIDA syndrome

description: IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


nanophthalmos 4

description: Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.


name: microcephaly, growth restriction, and increased sister chromatid exchange 2


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


congenital myopathy 23

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


name: epidermodysplasia verruciformis, susceptibility to, 1


name: autosomal recessive nonsyndromic hearing loss 8

description: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.


hypertrophic cardiomyopathy 2

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 1D

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


cardiomyopathy, familial restrictive, 3

description: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


pontocerebellar hypoplasia type 7

description: Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.


name: autosomal dominant limb-girdle muscular dystrophy type 1F

description: Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.


name: spondyloepiphyseal dysplasia tarda, X-linked

description: X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.


name: microphthalmia, isolated, with coloboma 5

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


holoprosencephaly 3

description: Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.


name: solitary median maxillary central incisor syndrome

description: A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.


polydactyly of a triphalangeal thumb

description: A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.


name: tibia, hypoplasia or aplasia of, with polydactyly

description: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.


laurin-Sandrow syndrome

description: Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.


name: intellectual disability-sparse hair-brachydactyly syndrome

description: Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.


rhabdoid tumor

description: An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.


name: intellectual disability, autosomal dominant 15

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.


retinitis pigmentosa 35

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.


cone-rod dystrophy 10

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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


amyotrophic lateral sclerosis type 4

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


name: X-linked lymphoproliferative disease due to SH2D1A deficiency

description: A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.


pontocerebellar hypoplasia, type 2F

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.


pontocerebellar hypoplasia type 4

description: Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.


pontocerebellar hypoplasia type 5

description: Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.


Pyle disease

description: A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.


osteogenesis imperfecta type 10

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.


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.


schizophrenia 15

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


cystinuria

description: Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


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.


dilated cardiomyopathy 1GG

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


paragangliomas 5

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


amyotrophic neuralgia

description: An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.


name: colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

description: A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.


trichohepatoenteric syndrome 2

description: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.


aneurysm-osteoarthritis syndrome

description: Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3.


hearing loss, X-linked 4

description: Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.


isolated congenital adermatoglyphia

description: Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.


name: absence of fingerprints-congenital milia syndrome

description: Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.


Schinzel-Giedion syndrome

description: Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.


name: intellectual disability, autosomal dominant 29

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.


name: chronic myelogenous leukemia, BCR-ABL1 positive

description: A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.


osteoarthritis susceptibility 1

description: Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.


Leri-Weill dyschondrosteosis

description: Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.


Langer mesomelic dysplasia

description: Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.


SHOX-related short stature

description: SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.


name: structural heart defects and renal anomalies syndrome


osteogenesis imperfecta type 14

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.


trichotillomania

description: A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.


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: Charcot-Marie-Tooth disease axonal type 2S

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.


spermatogenic failure 10

description: Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.


PSPH deficiency

description: 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.


PHGDH deficiency

description: 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form


Neu-Laxova syndrome 1

description: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.


name: limb-girdle muscular dystrophy due to POMK deficiency

description: Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.


dilated cardiomyopathy 1L

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


name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.


name: autoimmune disease, susceptibility to, 6

description: Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.


Joubert syndrome 2

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


Meckel syndrome, type 2

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


name: Noonan syndrome-like disorder with loose anagen hair 1

description: An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


Fanconi anemia complementation group P

description: Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.


amyotrophic lateral sclerosis type 16

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


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).


GM3 synthase deficiency

description: GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.


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.


branchiootic syndrome 3

description: Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.


branchiootorenal syndrome 2

description: Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.


Shprintzen-Goldberg syndrome

description: Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.


Schimke immuno-osseous dysplasia

description: A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.


name: hypothyroidism due to TSH receptor mutations

description: Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.


name: familial hyperthyroidism due to mutations in TSH receptor

description: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.


exudative vitreoretinopathy 5

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.


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.


name: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


name: familial isolated deficiency of vitamin E

description: Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.


retinitis pigmentosa 14

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.


Leber congenital amaurosis 15

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.


D,L-2-hydroxyglutaric aciduria

description: D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.


name: spinocerebellar ataxia, autosomal recessive 23


Joubert syndrome 16

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.


name: autosomal dominant familial periodic fever

description: A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.


name: multiple sclerosis, susceptibility to, 5

description: Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.


name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency


intellectual disability, X-linked 9

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.


familial amyloid neuropathy

description: A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.


TWIST1-related craniosynostosis

description: Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.


Gabriele de Vries syndrome

description: An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities.


autosomal dominant brachyolmia

description: Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.


name: spondylometaphyseal dysplasia, Kozlowski type

description: Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.


metatropic dysplasia

description: Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.


name: neuronopathy, distal hereditary motor, autosomal dominant 8

description: Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.


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.


name: scapuloperoneal spinal muscular atrophy, autosomal dominant


name: spondyloepimetaphyseal dysplasia, Maroteaux type

description: A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.


parastremmatic dwarfism

description: Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.


description: Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.


name: avascular necrosis of femoral head, primary, 2


name: autosomal recessive nonsyndromic hearing loss 98

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


name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.


intellectual disability, X-linked 58

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.


primary ciliary dyskinesia 35

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.


retinitis pigmentosa 51

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


Bardet-Biedl syndrome 8

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.


trichohepatoenteric syndrome 1

description: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.


cone-rod dystrophy 19

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.


name: intellectual disability, autosomal recessive 7

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.


focal facial dermal dysplasia type III

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


ablepharon macrostomia syndrome

description: Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.


Barber-Say syndrome

description: Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.


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.


name: hypogonadotropic hypogonadism 3 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.


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


microcephaly and chorioretinopathy 2

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.


name: neurodegeneration with brain iron accumulation 2B


name: neurodegeneration with brain iron accumulation 2A

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


name: autosomal recessive Parkinson disease 14

description: A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.


nephrotic syndrome, type 3

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

description: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).


retinitis pigmentosa 36

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


patent ductus arteriosus 3

description: Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.


Coffin-Siris syndrome 7

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.


auriculocondylar syndrome 2

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.


name: diabetes mellitus, transient neonatal, 1

description: K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously.


phenylketonuria

description: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.


name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

description: The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.


name: neuronopathy, distal hereditary motor, autosomal recessive 4

description: A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.


name: Charcot-Marie-Tooth disease recessive intermediate C

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


autosomal recessive osteopetrosis 6

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.


name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


Wilms tumor 6

description: Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.


retinitis pigmentosa 66

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.


name: bone fragility with contractures, arterial rupture, and deafness

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


name: autosomal recessive congenital ichthyosis 10

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.


name: mitochondrial myopathy-lactic acidosis-deafness syndrome

description: Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.


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


name: pigmented nodular adrenocortical disease, primary, 2

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.


acne inversa, familial, 2

description: Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.


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.


eosinophil peroxidase deficiency

description: A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.


multiple fibroadenoma of the breast

description: Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.


familial hyperprolactinemia

description: Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

description: An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

description: An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.


osteogenesis imperfecta type 9

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.


early-onset Lafora body disease

description: Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


description: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.


name: PMM2-congenital disorder of glycosylation

description: The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.


name: hemolytic anemia due to diphosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

description: An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


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


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.


retinitis pigmentosa 76

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.


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.


clubfoot

description: The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.


name: brachydactyly-elbow wrist dysplasia syndrome

description: Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.


name: autosomal recessive nonsyndromic hearing loss 59

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


heterotaxy, visceral, 8, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


polycystic kidney disease 1

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.


nonsyndromic congenital nail disorder 3

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


hereditary spastic paraplegia 39

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


description: Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.


Laurence-Moon syndrome

description: A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.


name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome

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


osteoporosis

description: A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).


name: microcephaly, seizures, and developmental delay


ataxia - oculomotor apraxia type 4

description: Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.


name: spondyloepimetaphyseal dysplasia, PAPSS2 type

description: A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.


name: developmental and epileptic encephalopathy, 9

description: Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.


name: microcephalic osteodysplastic primordial dwarfism type II

description: A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.


cone-rod dystrophy 5

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.


Axenfeld-Rieger syndrome type 1

description: A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.


anterior segment dysgenesis 4

description: Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.


ring dermoid of cornea

description: Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.


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.


name: Ehlers-Danlos syndrome, kyphoscoliotic type 1

description: A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.


premature ovarian failure 2B

description: Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.


gastrointestinal stromal tumor

description: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.


Borjeson-Forssman-Lehmann syndrome

description: A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.


name: intellectual disability, autosomal recessive 53


CHIME syndrome

description: CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.


name: developmental and epileptic encephalopathy, 12

description: An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


Bruck syndrome 2

description: Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.


name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


name: pituitary hormone deficiency, combined, 1

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.


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.


CLOVES syndrome

description: A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.


Cowden syndrome 5

description: Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.


name: congenital generalized lipodystrophy type 1

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


hypoplasminogenemia

description: A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.


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.


polycystic kidney disease 2

description: Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.


name: leukodystrophy and acquired microcephaly with or without dystonia;


immunodeficiency 14

description: An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.


name: epilepsy, early-onset, vitamin B6-dependent


name: progressive retinal dystrophy due to retinol transport defect


name: microphthalmia, isolated, with coloboma 10

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.


paroxysmal nocturnal hemoglobinuria 1

description: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.


name: multiple congenital anomalies-hypotonia-seizures syndrome 2

description: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.


name: hyperphosphatasia with intellectual disability syndrome 6

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


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.


Usher syndrome type 2A

description: Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.


name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency

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


name: PGM1-congenital disorder of glycosylation


description: A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.


name: hyperphosphatasia with intellectual disability syndrome 2

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


name: hyperphosphatasia with intellectual disability syndrome 1

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


name: syndromic X-linked intellectual disability Siderius type


name: ciliary dyskinesia, primary, 36, X-linked

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.


glycogen storage disease VII

description: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


name: intellectual disability, autosomal recessive 42

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.


Meester-Loeys syndrome

description: An X-linked condition caused by mutation(s) in the BGN gene, encoding biglycan. It is characterized by cardiovascular defects and abnormal facies.


description: X-linked form of spondyloepimetaphyseal dysplasia.


glycogen storage disease IXc

description: A liver PhK deficiency caused by variants in the PHKG2 gene


name: autosomal recessive nonsyndromic hearing loss 104

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.


Warburg micro syndrome 3

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.


Noonan syndrome 3

description: Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.


cardiofaciocutaneous syndrome 2

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.


name: renal tubular dysgenesis of genetic origin

description: An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.


name: familial juvenile hyperuricemic nephropathy type 2

description: Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).


hemochromatosis type 2A

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


name: deafness-intellectual disability, Martin-Probst type syndrome

description: A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome.


congenital myasthenic syndrome 11

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.


name: RFT1-congenital disorder of glycosylation

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


name: hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

description: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.


RIN2 syndrome

description: RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.


retinitis pigmentosa 77

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.


name: syndromic X-linked intellectual disability Hedera type

description: X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.


description: X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.


retinitis pigmentosa 44

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


cone-rod dystrophy 7

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


retinitis pigmentosa 54

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


name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


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.


Usher syndrome type 1D

description: A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.


name: autosomal recessive nonsyndromic hearing loss 23

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


name: asthma-related traits, susceptibility to, 1

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.


Cole-Carpenter syndrome 1

description: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.


name: infantile-onset generalized dyskinesia with orofacial involvement


name: striatal degeneration, autosomal dominant 2

description: Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.


name: acrodysostosis 2 with or without hormone resistance

description: Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.


name: intellectual disability, autosomal dominant 48


name: peroxisome biogenesis disorder 11A (Zellweger)


name: peroxisome biogenesis disorder 4A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 4B

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: congenital stationary night blindness 1A

description: A congenital stationary night blindness caused by variants in the X-linked NYX gene.


name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.


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.


foveal hypoplasia 1

description: Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.


autosomal dominant keratitis

description: Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.


coloboma of optic nerve

description: A cleft of the optic nerve that extends inferiorly.


isolated optic nerve hypoplasia

description: A congenital abnormality characterized by the underdevelopment of both optic nerves.


Waardenburg syndrome type 1

description: Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.


Waardenburg syndrome type 3

description: Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.


craniofacial-deafness-hand syndrome

description: Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.


name: diencephalic-mesencephalic junction dysplasia syndrome 1


description: Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.


name: combined immunodeficiency with skin granulomas


name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

description: A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.


name: Silverman-Handmaker type dyssegmental dysplasia

description: Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.


name: hyperphosphatasia with intellectual disability syndrome 3

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.


name: spondyloepiphyseal dysplasia, Kimberley type

description: Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.


name: spondyloepimetaphyseal dysplasia, aggrecan type

description: A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.


name: short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

description: A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.


name: basal ganglia calcification, idiopathic, 4


myofibromatosis, infantile, 1

description: Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.


name: skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


name: acroosteolysis-keloid-like lesions-premature aging syndrome


name: microcephaly 11, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.


name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6

description: Dyskeratosis congenita caused by autosomal recessive mutation(s) in the PARN gene, encoding poly(A)-specific ribonuclease PARN.


name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

description: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.


hereditary folate malabsorption

description: Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.


name: autosomal dominant striatal neurodegeneration type 1

description: Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.


name: pigmented nodular adrenocortical disease, primary, 3

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.


retinitis pigmentosa 43

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.


Joubert syndrome 22

description: Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.


name: Charcot-Marie-Tooth disease X-linked dominant 6

description: X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).


spinocerebellar ataxia type 23

description: Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.


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: systemic lupus erythematosus, susceptibility to, 2


name: basal ganglia calcification, idiopathic, 5


advanced sleep phase syndrome 3

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


name: rhizomelic chondrodysplasia punctata type 1

description: A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.


congenital stromal corneal dystrophy

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


Dowling-Degos disease 4

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.


name: autosomal recessive limb-girdle muscular dystrophy type 2R1

description: An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.


neutrophil immunodeficiency syndrome

description: A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.


thyroid dyshormonogenesis 2A

description: Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.


Cornelia de Lange syndrome 4

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


name: peroxisome biogenesis disorder 6A (Zellweger)

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


peroxisome biogenesis disorder 6B

description: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: peroxisome biogenesis disorder 8A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 8B

description: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: peroxisome biogenesis disorder 3A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder type 3B

description: A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.


name: glycogen storage disease due to phosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.


name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial


name: early-onset parkinsonism-intellectual disability syndrome

description: A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.


Martsolf syndrome 1

description: This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.


Warburg micro syndrome 2

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


oculocutaneous albinism type 2

description: Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.


RAB23-related Carpenter syndrome

description: Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.


name: prolonged electroretinal response suppression 1