name: hypogonadotropic hypogonadism 7 with or without anosmia

description: A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.


retinitis pigmentosa 56

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

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.


vitelliform macular dystrophy 5

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.


Joubert syndrome 1

description: Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.


MORM syndrome

description: MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.


Rabson-Mendenhall syndrome

description: Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).


Donohue syndrome

description: Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.


hyperinsulinism due to INSR deficiency

description: Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.


insulin-resistance syndrome type A

description: Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.


hyperekplexia 2

description: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.


retinitis pigmentosa 10

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.


Leber congenital amaurosis 11

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.


familial hypocalciuric hypercalcemia 2

description: A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


autosomal dominant hypocalcemia 2

description: An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


dystonia 25

description: Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.


name: congenital stationary night blindness autosomal dominant 3

description: A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.


name: congenital stationary night blindness 1G

description: A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.


name: gnb5-related intellectual disability-cardiac arrhythmia syndrome

description: An autosomal recessive condition caused by mutation(s) in the GNB5 gene, encoding guanine nucleotide-binding protein subunit beta-5. It is characterized by severe intellectual disability, poor speech acquisition, and cardiac arrhythmia. Biallelic missense mutation in the GNB5 gene can cause language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, which is a less-severe disorder with overlapping features.


name: language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


intellectual disability, X-linked 104

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.


formiminoglutamic aciduria

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


name: monocytopenia with susceptibility to infections


deafness-lymphedema-leukemia syndrome

description: Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.


name: hereditary angioedema with C1Inh deficiency

description: Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.


name: peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome


name: neurodevelopmental disorder with poor language and loss of hand skills


name: developmental and epileptic encephalopathy, 59


Charcot-Marie-Tooth disease type 2D

description: Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


AGAT deficiency

description: L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


cataract 18

description: Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.


classic galactosemia

description: Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


mucopolysaccharidosis type 4A

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.


name: Parkinson disease 11, autosomal dominant, susceptibility to

description: An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene.


retinitis pigmentosa 46

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


d-2-hydroxyglutaric aciduria 2

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


adult Refsum disease

description: A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


diabetes mellitus, ketosis-prone

description: An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis.


name: maturity-onset diabetes of the young type 9

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.


name: hypothyroidism, congenital, nongoitrous, 2

description: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


ornithine translocase deficiency

description: A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.


hypomyelinating leukodystrophy 10

description: Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.


intellectual disability, X-linked 30

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.


adenylosuccinate lyase deficiency

description: Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


AICA-ribosiduria

description: AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


red-green color blindness

description: Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.


blue cone monochromacy

description: Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.


name: glaucoma, normal tension, susceptibility to


amyotrophic lateral sclerosis type 12

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


Meier-Gorlin syndrome 3

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.


name: autosomal dominant nonsyndromic hearing loss 67

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.


autosomal recessive osteopetrosis 5

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.


description: Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.


name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

description: IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).


name: posterior polymorphous corneal dystrophy 1

description: A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1


platelet-type bleeding disorder 8

description: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.


Li-Fraumeni syndrome

description: An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia.


choroid plexus papilloma

description: Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.


adrenocortical carcinoma, hereditary

description: An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.


name: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7


name: agammaglobulinemia 7, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.


SHORT syndrome

description: SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.


immunodeficiency 36

description: An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma.


ADULT syndrome

description: ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.


name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

description: An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.


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

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


split hand-foot malformation 4

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


limb-mammary syndrome

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


Rapp-Hodgkin syndrome

description: A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.


familial benign flecked retina

description: Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.


autosomal recessive cutis laxa type 2B

description: Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.


PYCR1-related de Barsy syndrome

description: Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16


Fanconi anemia complementation group N

description: Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.


name: familial infantile bilateral striatal necrosis

description: The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.


nephrotic syndrome, type 12

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


name: combined immunodeficiency due to GINS1 deficiency


name: autosomal dominant optic atrophy, classic form

description: One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.


name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy


Behr syndrome

description: A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.


name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.


3-methylglutaconic aciduria type 3

description: 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.


name: X-linked intellectual disability-cerebellar hypoplasia syndrome

description: X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.


Alzheimer disease 4

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.


dilated cardiomyopathy 1V

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.


name: surfactant metabolism dysfunction, pulmonary, 2


red color blindness

description: Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.


Meier-Gorlin syndrome 2

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.


Meier-Gorlin syndrome 1

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.


name: autosomal recessive nonsyndromic hearing loss 18B

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


name: autosomal recessive nonsyndromic hearing loss 22

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


Cowden syndrome 1

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


macrocephaly-autism syndrome

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


Bardet-Biedl syndrome 9

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.


name: autosomal dominant nonsyndromic hearing loss 41

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.


myopia 25, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.


5-oxoprolinase deficiency

description: 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.


retinitis pigmentosa 4

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


name: congenital stationary night blindness autosomal dominant 1

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


blue color blindness

description: Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.


narcolepsy 1

description: A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.


name: amyloidosis, primary localized cutaneous, 1

description: Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.


name: autosomal recessive nonsyndromic hearing loss 9

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


name: autosomal recessive nonsyndromic hearing loss 84B

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


name: infantile-onset periodic fever-panniculitis-dermatosis syndrome

description: An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.


syndromic microphthalmia type 5

description: Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.


name: pituitary hormone deficiency, combined, 6

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.


name: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

description: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.


pancreatic agenesis 2

description: Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.


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


oculopharyngeal muscular dystrophy 1

description: An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.


name: platelet-activating factor acetylhydrolase deficiency

description: Reduced level of platelet-activating factor acetylhydrolase.


IgE responsiveness, atopic

description: Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.


pancreatic agenesis 1

description: Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.


name: maturity-onset diabetes of the young type 4

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


hypertrophic cardiomyopathy 16

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.


neurohypophyseal diabetes insipidus

description: Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.


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

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


name: intellectual disability, autosomal dominant 8

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.


name: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive


Blau syndrome

description: Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.


inflammatory bowel disease 1

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.


Yao syndrome

description: An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.


name: Noonan syndrome-like disorder with loose anagen hair 2

description: An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. 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.


glaucoma 1, open angle, O

description: Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.


name: developmental and epileptic encephalopathy, 58


name: obesity, hyperphagia, and developmental delay


nephrotic syndrome, type 11

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


atrial fibrillation, familial, 15

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.


name: Spondyloenchondrodysplasia with immune dysregulation


MELAS syndrome

description: MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.


retinitis pigmentosa 27

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


Pitt-Hopkins-like syndrome 2

description: Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.


CHILD syndrome

description: CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


name: hereditary sensory and autonomic neuropathy type 4

description: Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.


name: Alzheimer disease, susceptibility to, mitochondrial


odontohypophosphatasia

description: Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


hypophosphatasia

description: Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).


perinatal lethal hypophosphatasia

description: A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.


name: hereditary progressive chorea without dementia


brain-lung-thyroid syndrome

description: Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).


Landau-Kleffner syndrome

description: Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.


name: intellectual disability, autosomal dominant 6

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


name: developmental and epileptic encephalopathy, 27

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.


myoclonus, familial, 1

description: Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.


name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1

description: Dyskeratosis congenita caused by autosomal recessive mutation(s) in the NOP10 gene, encoding H/ACA ribonucleoprotein complex subunit 3.


Sotos syndrome

description: Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.


name: lung disease, immunodeficiency, and chromosome breakage syndrome;


name: epileptic encephalopathy, infantile or early childhood, 1


Alzheimer disease 3

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.


dilated cardiomyopathy 1U

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.


acne inversa, familial, 3

description: Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.


name: surfactant metabolism dysfunction, pulmonary, 1

description: An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant.


Seckel syndrome 10

description: Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.


name: PPARG-related familial partial lipodystrophy


galactosialidosis

description: A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.


name: immunodeficiency, developmental delay, and hypohomocysteinemia


acne inversa, familial, 1

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


name: SRD5A3-congenital disorder of glycosylation

description: A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.


Kahrizi syndrome

description: An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.


name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10


name: hypogonadotropic hypogonadism 9 with or without anosmia

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


name: intellectual disability, autosomal recessive 5

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.


name: multiple mitochondrial dysfunctions syndrome 1

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


name: ectodermal dysplasia and immunodeficiency 1

description: An X-linked recessive condition caused by mutation(s) in the IKBKG gene, encoding NF-kappa-B essential modulator (NEMO). It is characterized by the onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. Affected individuals may present with ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair.


immunodeficiency 33

description: Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.


incontinentia pigmenti

description: Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).


neurofibromatosis 1

description: The most common type of neurofibromatosis.  It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface.  They can vary markedly in size and color.  The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas.  They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures.  Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.


name: Cafe-au-lait macules with pulmonary stenosis


name: familial encephalopathy with neuroserpin inclusion bodies


name: brain malformations with or without urinary tract defects

description: A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.


hereditary spastic paraplegia 6

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


name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


Niemann-Pick disease, type C2

description: Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.


nephronophthisis 3

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


renal-hepatic-pancreatic dysplasia 1

description: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.


name: epilepsy, familial focal, with variable foci 3

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


name: hereditary hypophosphatemic rickets with hypercalciuria

description: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.


nephrotic syndrome, type 13

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.


Nance-Horan syndrome

description: A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.


cataract 40

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


name: syndromic X-linked intellectual disability 34

description: Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.


name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

description: A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.


myofibromatosis, infantile, 2

description: Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.


name: congenital nephrotic syndrome, Finnish type

description: Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.


name: epilepsy, familial focal, with variable foci 2

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


name: asthma-related traits, susceptibility to, 2

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.


name: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

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


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

description: An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.


focal dermal hypoplasia

description: A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


cerebral palsy, spastic quadriplegic, 2

description: Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.


name: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

description: A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.


nemaline myopathy 6

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.


name: intellectual disability, autosomal dominant 53


myoclonic dystonia 26

description: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.


EAST syndrome

description: SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).


name: hyperinsulinemic hypoglycemia, familial, 2

description: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.


name: diabetes mellitus, transient neonatal, 3

description: Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.


name: maturity-onset diabetes of the young type 13

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.


snowflake vitreoretinal degeneration

description: Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.


Leber congenital amaurosis 16

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


name: developmental and epileptic encephalopathy, 32

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.


spinocerebellar ataxia type 13

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


name: developmental and epileptic encephalopathy, 14

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.


name: autosomal dominant nocturnal frontal lobe epilepsy 5

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


name: developmental and epileptic encephalopathy, 57


nanophthalmos 2

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


isolated microphthalmia 5

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.


hydatidiform mole, recurrent, 2

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.


name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

description: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.


name: microcephaly 20, primary, autosomal recessive


name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

description: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.


name: cryptosporidiosis-chronic cholangitis-liver disease syndrome


tropical pancreatitis

description: Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.


name: epidermolysis bullosa simplex 2E, with migratory circinate erythema

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.


name: epidermolysis bullosa simplex 2F, with mottled pigmentation

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


Dowling-Degos disease 1

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.


hypotrichosis 13

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


loose anagen syndrome

description: Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.


description: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.


atrial fibrillation, familial, 7

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.


name: generalized epilepsy-paroxysmal dyskinesia syndrome

description: Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.


name: developmental and epileptic encephalopathy, 26

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.


episodic ataxia type 1

description: Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.


seizures, benign familial neonatal, 2

description: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.


name: cone dystrophy with supernormal rod response

description: Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.


mucopolysaccharidosis type 9

description: An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.


name: hypogonadotropic hypogonadism 18 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.


psoriasis 14, pustular

description: Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.


name: restless legs syndrome, susceptibility to, 7


candidiasis, familial, 6

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.


name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

description: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.


thrombocythemia 3

description: Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.


name: coronary heart disease, susceptibility to, 5

description: Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.


name: pigmented nodular adrenocortical disease, primary, 4

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


Cowden syndrome 4

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


glycogen storage disease IXb

description: A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.


Richieri Costa-Pereira syndrome

description: Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.


type 1 diabetes mellitus 19

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.


Aicardi-Goutieres syndrome 7

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.


Singleton-Merten syndrome 1

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.


name: short-rib thoracic dysplasia 19 with or without polydactyly


hereditary intrinsic factor deficiency

description: Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.


name: X-linked central congenital hypothyroidism with late-onset testicular enlargement

description: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.


name: familial congenital nasolacrimal duct obstruction

description: No identifiable superior and/or inferior lacrimal punctum.


name: microvascular complications of diabetes, susceptibility to, 4

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.


name: sterile multifocal osteomyelitis with periostitis and pustulosis

description: An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.


multiple endocrine neoplasia type 1

description: Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.


name: Klippel-Feil syndrome 2, autosomal recessive

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


essential fructosuria

description: Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.


name: complex cortical dysplasia with other brain malformations 3

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.


name: congenital fibrosis of extraocular muscles type 1

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.


name: tumoral calcinosis, hyperphosphatemic, familial, 3


amelogenesis imperfecta type 2A1

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.


spinocerebellar ataxia type 14

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


name: erythrokeratodermia variabilis et progressiva 5


cataract 15 multiple types

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


Feingold syndrome type 2

description: Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.


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

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


name: microcephalic primordial dwarfism, Alazami type

description: Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.


amelogenesis imperfecta type 1A

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.


name: coronary heart disease, susceptibility to, 6

description: Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.


dilated cardiomyopathy 1C

description: A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.


myofibrillar myopathy 4

description: Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.


heterotaxy, visceral, 7, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.


Pierson syndrome

description: Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.


description: LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.


name: severe combined immunodeficiency due to LAT deficiency


name: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

description: A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.


description: Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.


glycogen storage disease IXd

description: A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.


Coffin-Lowry syndrome

description: A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.


intellectual disability, X-linked 19

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


name: methylmalonate semialdehyde dehydrogenase deficiency


name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


Lynch syndrome 1

description: A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.


name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5


name: amelogenesis imperfecta, hypomaturation type, IIa6


name: homocystinuria due to methylene tetrahydrofolate reductase deficiency

description: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.


methylcobalamin deficiency type cblE

description: An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


name: split-foot malformation-mesoaxial polydactyly syndrome


name: myopathy, centronuclear, 6, with fiber-type disproportion


3MC syndrome 1

description: Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.


name: developmental and epileptic encephalopathy, 51

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


name: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

description: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.


name: intellectual disability, autosomal recessive 18

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.


enhanced S-cone syndrome

description: An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.


retinitis pigmentosa 37

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.


name: microcytic anemia with liver iron overload

description: Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.


ornithine aminotransferase deficiency

description: A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


3M syndrome 2

description: Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.


name: combined immunodeficiency due to moesin deficiency


name: mitochondrial pyruvate carrier deficiency

description: An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.


name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome


X-linked myotubular myopathy

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


Charcot-Marie-Tooth disease type 4B3

description: Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).


name: colobomatous microphthalmia-rhizomelic dysplasia syndrome

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


name: autosomal dominant nonsyndromic hearing loss 70

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.


name: megalencephalic leukoencephalopathy with subcortical cysts 1


hypertrophic cardiomyopathy 10

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.


name: juvenile cataract-microcornea-renal glucosuria syndrome

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


cardiofaciocutaneous syndrome 3

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.


name: metabolic myopathy due to lactate transporter defect

description: Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.


exercise-induced hyperinsulinism

description: Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.


name: ketoacidosis due to monocarboxylate transporter-1 deficiency


Charcot-Marie-Tooth disease type 4B1

description: Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).


Charcot-Marie-Tooth disease type 4B2

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


abetalipoproteinemia

description: Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.


name: congenital stationary night blindness 1D

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


name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

description: Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.


name: macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

description: An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.


name: autosomal dominant nonsyndromic hearing loss 17

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


Usher syndrome type 1B

description: Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene


name: autosomal recessive nonsyndromic hearing loss 2

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


name: autosomal dominant nonsyndromic hearing loss 11

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


MYPN-related myopathy

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


dilated cardiomyopathy 1KK

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


name: peroxisome biogenesis disorder 7A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 7B

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: congenital myopathy 7A, myosin storage, autosomal dominant


dilated cardiomyopathy 1S

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


MYH7-related skeletal myopathy

description: Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.


name: myopathy, myosin storage, autosomal recessive


atrial septal defect 3

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.


hypertrophic cardiomyopathy 14

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


dilated cardiomyopathy 1EE

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


name: sick sinus syndrome 3, susceptibility to

description: Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.


Ogden syndrome

description: Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.


name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

description: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).


name: peroxisome biogenesis disorder 5A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 5B

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

description: An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis.


name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

description: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


congenital malabsorptive diarrhea 4

description: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.


name: autosomal recessive congenital ichthyosis 6

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.


autism, susceptibility to, X-linked 2

description: A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).


name: Alagille syndrome due to a NOTCH2 point mutation


Acroosteolysis dominant type

description: A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.


pulmonary alveolar microlithiasis

description: Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.


Niemann-Pick disease, type C1

description: Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.


name: peroxisome biogenesis disorder 10A (Zellweger)


name: familial cold autoinflammatory syndrome 2

description: An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.


name: alpha-N-acetylgalactosaminidase deficiency type 1

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.


name: alpha-N-acetylgalactosaminidase deficiency type 2

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.


name: maturity-onset diabetes of the young type 6

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


Charcot-Marie-Tooth disease type 4D

description: Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.


name: intellectual disability, autosomal recessive 1

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.


Malan overgrowth syndrome

description: A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.


Marshall-Smith syndrome

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


Cernunnos-XLF deficiency

description: Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.


name: familial cold autoinflammatory syndrome 1

description: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.


Muckle-Wells syndrome

description: An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).


CINCA syndrome

description: Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.


name: hearing loss, autosomal dominant 34, with or without inflammation


Leber congenital amaurosis 9

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.


aortic valve disease 1

description: Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.


Adams-Oliver syndrome 5

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


nephronophthisis 1

description: Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.


Senior-Loken syndrome 1

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.


Joubert syndrome with renal defect

description: A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.


nephronophthisis 4

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.


Senior-Loken syndrome 4

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.


Fanconi renotubular syndrome 2

description: Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.


hypercalcemia, infantile, 2

description: Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


sialidosis type 2

description: A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.


name: purine nucleoside phosphorylase deficiency

description: Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


name: vitiligo-associated multiple autoimmune disease susceptibility 1


name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


name: autoinflammation with arthritis and dyskeratosis


name: developmental and epileptic encephalopathy, 46

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


name: IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY


name: congenital disorder of deglycosylation 1

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


name: combined oxidative phosphorylation defect type 13

description: Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.


name: autosomal recessive nonsyndromic hearing loss 70

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.


Cornelia de Lange syndrome 1

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


atrial septal defect 7

description: Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.


name: hypothyroidism, congenital, nongoitrous, 5

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.


ventricular septal defect 3

description: Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.


hypoplastic left heart syndrome 2

description: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.


sterol carrier protein 2 deficiency

description: A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


Bowen-Conradi syndrome

description: Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.


Seckel syndrome 7

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


pyridoxal phosphate-responsive seizures

description: Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


name: microcephaly 15, primary, autosomal recessive


heterotaxy, visceral, 5, autosomal

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


multiple synostoses syndrome 1

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.


tarsal-carpal coalition syndrome

description: Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.


name: stapes ankylosis with broad thumbs and toes

description: Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.


brachydactyly type B2

description: Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

description: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.


name: obesity due to prohormone convertase I deficiency

description: Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.


name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2

description: Dyskeratosis congenita caused by autosomal recessive mutation(s) in the NHP2 gene, encoding H/ACA ribonucleoprotein complex subunit 2.


name: periodic fever-infantile enterocolitis-autoinflammatory syndrome


name: familial cold autoinflammatory syndrome 4

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


dilated cardiomyopathy 1CC

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


hypertrophic cardiomyopathy 20

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


congenital myasthenic syndrome 9

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


name: intellectual disability, autosomal dominant 39

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.


microvillus inclusion disease

description: Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.


name: hyperammonemia due to N-acetylglutamate synthase deficiency

description: N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.


name: Carney complex - trismus - pseudocamptodactyly syndrome

description: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).


Burkitt lymphoma

description: Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.


Griscelli syndrome type 1

description: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.