name: camptodactyly syndrome, Guadalajara type 3

description: Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.


name: epilepsy, idiopathic generalized, susceptibility to, 5

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


name: chromosome 3q29 microduplication syndrome

description: 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.


name: catecholaminergic polymorphic ventricular tachycardia 2

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.


name: epilepsy, childhood absence, susceptibility to, 6

description: An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.


RIDDLE syndrome

description: An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.


hereditary spastic paraplegia 37

description: Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.


age related macular degeneration 11

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.


name: asthma-related traits, susceptibility to, 7

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.


name: chromosome 15q13.3 microdeletion syndrome

description: 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.


thrombocytopenia 4

description: Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.


name: RFT1-congenital disorder of glycosylation

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


name: autosomal recessive ataxia due to ubiquinone deficiency

description: This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.


name: pyloric stenosis, infantile hypertrophic, 3


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.


hereditary spastic paraplegia 39

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


name: coronary heart disease, susceptibility to, 9


dystonia 16

description: Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.


amyotrophic lateral sclerosis type 10

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


name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.


mitochondrial DNA depletion syndrome 8a

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.


ANE syndrome

description: ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.


name: hypophosphatemic rickets and hyperparathyroidism


retinitis pigmentosa 41

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


name: deafness, unilateral, with delayed endolymphatic hydrops


hypertrophic cardiomyopathy 11

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


oculoauricular syndrome

description: Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).


name: diarrhea-vomiting due to trehalase deficiency

description: This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.


hypertrophic cardiomyopathy 12

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


name: childhood onset GLUT1 deficiency syndrome 2

description: A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.


name: ectodermal dysplasia and immunodeficiency 2

description: A rare disorder caused by mutations in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.


name: epidermolysis bullosa simplex 5C, with pyloric atresia

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


dilated cardiomyopathy 1AA

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.


histiocytoma, Angiomatoid fibrous

description: A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.


name: developmental and epileptic encephalopathy, 4

description: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.


retinitis pigmentosa 29

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.


name: diastasis recti and weakness of the linea alba


Coats plus syndrome

description: Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.


atrial fibrillation, familial, 6

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


Ewing sarcoma

description: A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.


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.


diabetic ketoacidosis

description: The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.


colorectal cancer, susceptibility to, 3

description: Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.


hypomyelinating leukodystrophy 4

description: Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.


extraskeletal myxoid chondrosarcoma

description: A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.


name: scoliosis, isolated, susceptibility to, 4


name: scoliosis, isolated, susceptibility to, 5


atrial fibrillation, familial, 7

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


inflammatory bowel disease 12

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


chromosome 10q23 deletion syndrome

description: 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.


inflammatory bowel disease 13

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.


inflammatory bowel disease 14

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.


name: Crouzon syndrome-acanthosis nigricans syndrome

description: Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).


name: systemic lupus erythematosus, susceptibility to, 10

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.


name: systemic lupus erythematosus, susceptibility to, 11

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.


name: systemic lupus erythematosus, susceptibility to, 12


inflammatory bowel disease 15

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.


inflammatory bowel disease 16

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.


name: pyogenic bacterial infections due to MyD88 deficiency

description: Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.


inflammatory bowel disease 17

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.


inflammatory bowel disease 18

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.


name: melanoma, cutaneous malignant, susceptibility to, 7


name: epilepsy, childhood absence, susceptibility to, 5

description: Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.


primary ciliary dyskinesia 8

description: A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.


inflammatory bowel disease 19

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


name: generalized epilepsy with febrile seizures plus, type 6


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.


Meckel syndrome, type 6

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


Joubert syndrome 9

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


inflammatory bowel disease 20

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.


Fontaine progeroid syndrome

description: A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.


name: bilateral microtia-deafness-cleft palate syndrome

description: This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.


Joubert syndrome 8

description: Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.


Birk-Barel syndrome

description: Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).


name: porokeratosis 5, disseminated superficial actinic type


autosomal recessive osteopetrosis 7

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.


name: thrombophilia due to protein C deficiency, autosomal recessive


premature ovarian failure 6

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


name: attention deficit-hyperactivity disorder, susceptibility to, 5


name: attention deficit-hyperactivity disorder, susceptibility to, 6


chromosome 2q32-q33 deletion syndrome

description: 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.


hereditary spastic paraplegia 35

description: Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.


hereditary spastic paraplegia 38

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.


name: thrombophilia due to protein S deficiency, autosomal dominant

description: Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.


name: intellectual disability, autosomal dominant 22

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.


Jervell and Lange-Nielsen syndrome 2

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


name: thrombophilia, familial, due to decreased release of tissue plasminogen activator


description: Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.


name: porokeratosis 6, disseminated superficial actinic type


inflammatory bowel disease 21

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.


Cowden syndrome 2

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


schizophrenia 14

description: A schizophrenia that has material basis in a mutation on chromosome 2q32.1.


name: hypogonadotropic hypogonadism 5 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.


acute promyelocytic leukemia

description: An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.


name: systemic lupus erythematosus, susceptibility to, 13


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.


inflammatory bowel disease 22

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.


inflammatory bowel disease 23

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.


sarcoidosis, susceptibility to, 2

description: Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.


pontocerebellar hypoplasia type 2B

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.


pontocerebellar hypoplasia type 2C

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.


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

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


osteoarthritis susceptibility 5

description: Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.


torsion dystonia 17

description: A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


congenital factor XI deficiency

description: Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.


cardiomyopathy, familial restrictive, 3

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


inherited prekallikrein deficiency

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


name: autosomal dominant nonsyndromic hearing loss 27

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.


name: autosomal recessive nonsyndromic hearing loss 45

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.


epilepsy, progressive myoclonic, 1B

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.


hypomyelinating leukodystrophy 6

description: A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.


primary ciliary dyskinesia 9

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


name: blindness - scoliosis - arachnodactyly syndrome

description: This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.


complement component 6 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.


name: skeletal defects, genital hypoplasia, and intellectual disability


pseudohypoparathyroidism type 1C

description: A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).


pseudopseudohypoparathyroidism

description: A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).


name: Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

description: A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.


chromosome 1q21.1 deletion syndrome

description: 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.


chromosome 1q21.1 duplication syndrome

description: Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.


chromosome 2p16.1-p15 deletion syndrome

description: 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


primary ciliary dyskinesia 10

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.


type 1 diabetes mellitus 20

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.


type 1 diabetes mellitus 21

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.


type 1 diabetes mellitus 22

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.


name: pyloric stenosis, infantile hypertrophic, 5


name: congenital generalized lipodystrophy type 3

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.


Diamond-Blackfan anemia 4

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.


Diamond-Blackfan anemia 5

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.


name: amelogenesis imperfecta hypomaturation type 2A2

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.


chromosome 1q41-q42 deletion syndrome

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


hereditary spastic paraplegia 42

description: Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.


name: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the G6PC3 gene, encoding glucose-6-phosphatase 3. It is characterized by cardiac abnormalities, hepatosplenomegaly, intermittent thrombocytopenia and a prominent superficial venous pattern.


name: focal segmental glomerulosclerosis 4, susceptibility to

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.


name: breast-ovarian cancer, familial, susceptibility to, 2

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.


name: leukemia, chronic lymphocytic, susceptibility to, 3


name: leukemia, chronic lymphocytic, susceptibility to, 4


name: leukemia, chronic lymphocytic, susceptibility to, 5


Diamond-Blackfan anemia 6

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.


Diamond-Blackfan anemia 7

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.


Diamond-Blackfan anemia 8

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.


inflammatory bowel disease 24

description: An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.


inflammatory bowel disease 25

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.


retinitis pigmentosa 46

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


name: chromosome 17P13.3, telomeric, duplication syndrome


amyotrophic lateral sclerosis type 11

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.


name: intellectual disability, autosomal dominant 3

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.


name: intellectual disability, autosomal dominant 4

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.


chromosome 6pter-p24 deletion syndrome

description: Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.


name: colorectal cancer, susceptibility to, 10

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.


name: colorectal cancer, susceptibility to, 11


name: multiple sclerosis, susceptibility to, 2


name: multiple sclerosis, susceptibility to, 3


name: multiple sclerosis, susceptibility to, 4


name: intellectual disability, autosomal dominant 5

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.


type 1 diabetes mellitus 23

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.


name: microvascular complications of diabetes, susceptibility to, 2

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


name: microvascular complications of diabetes, susceptibility to, 3

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


chromosome 15q26-qter deletion syndrome

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


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: hemolytic anemia due to adenylate kinase deficiency

description: Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.


Usher syndrome type 1H

description: An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.


name: microvascular complications of diabetes, susceptibility to, 5

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene.


name: microvascular complications of diabetes, susceptibility to, 6

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.


name: microvascular complications of diabetes, susceptibility to, 7

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


inflammatory bowel disease 26

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.


name: autosomal dominant nonsyndromic hearing loss 59

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.


name: autosomal dominant nonsyndromic hearing loss 3B

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


name: autosomal dominant nonsyndromic hearing loss 2B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.


name: autosomal recessive nonsyndromic hearing loss 1B

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


primary ciliary dyskinesia 11

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.


primary ciliary dyskinesia 12

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.


description: Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.


hereditary spherocytosis type 4

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.


episodic ataxia type 6

description: Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.


cone-rod dystrophy 12

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.


PHARC syndrome

description: Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.


hereditary spherocytosis type 5

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.


name: bilateral parasagittal parieto-occipital polymicrogyria


name: agammaglobulinemia 6, autosomal recessive

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


name: hypogonadotropic hypogonadism 6 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


name: microcephaly 7, primary, autosomal recessive

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


Leber congenital amaurosis 13

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.


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.


description: This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.


name: dyschromatosis universalis hereditaria 2


name: dopa-responsive dystonia due to sepiapterin reductase deficiency

description: Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.


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.


name: cholestasis-pigmentary retinopathy-cleft palate syndrome

description: Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.


description: A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.


name: porphyria due to ALA dehydratase deficiency

description: Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.


cone-rod dystrophy 9

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.


description: Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).


name: hypotonia, seizures, and precocious puberty


EAST syndrome

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


name: isolated growth hormone deficiency type IB

description: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.


name: combined immunodeficiency due to ORAI1 deficiency

description: A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.


name: combined immunodeficiency due to STIM1 deficiency

description: Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.


name: autosomal recessive nonsyndromic hearing loss 71

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.


atrial septal defect 5

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.


inflammatory bowel disease 27

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3


name: spondyloepimetaphyseal dysplasia, aggrecan type

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


Brugada syndrome 5

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.


leukocyte adhesion deficiency 3

description: Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.


hypotrichosis 5

description: A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.


name: keratosis follicularis spinulosa decalvans, autosomal dominant


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.


name: restless legs syndrome, susceptibility to, 7


name: chronic thromboembolic pulmonary hypertension

description: Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.


chromosome 6q24-q25 deletion syndrome

description: 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.


name: subepithelial mucinous corneal dystrophy

description: Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.


posterior amorphous corneal dystrophy

description: Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.


name: adenosine monophosphate deaminase deficiency

description: Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.


dilated cardiomyopathy 1BB

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


name: chromosome 5Q14.3 deletion syndrome, distal


name: epilepsy, idiopathic generalized, susceptibility to, 8

description: Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene.


cerebral palsy, spastic quadriplegic, 2

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


keratosis palmoplantaris striata 2

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


orofaciodigital syndrome XI

description: Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.


CLOVES syndrome

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


3M syndrome 2

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


name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


name: atypical hemolytic-uremic syndrome with I factor anomaly


name: atypical hemolytic-uremic syndrome with B factor anomaly


name: atypical hemolytic-uremic syndrome with C3 anomaly


name: atypical hemolytic-uremic syndrome with thrombomodulin anomaly


name: Mycobacterium tuberculosis, susceptibility to, 3


name: glycogen storage disease due to muscle beta-enolase deficiency

description: Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.


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.


hereditary spastic paraplegia 50

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.


name: DPM3-congenital disorder of glycosylation

description: DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


name: lethal polymalformative syndrome, Boissel type


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.


retinitis pigmentosa 42

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.


name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

description: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.


name: microcephaly, growth retardation, cataract, hearing loss, and unusual appearance


name: Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features


name: developmental and epileptic encephalopathy, 39

description: A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.


name: cystic leukoencephalopathy without megalencephaly

description: Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.


Aicardi-Goutieres syndrome 5

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.


name: autosomal recessive Parkinson disease 14

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


myofibrillar myopathy 6

description: Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.


long QT syndrome 12

description: Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.


name: ventricular fibrillation, paroxysmal familial, 2

description: Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.


multiple synostoses syndrome 3

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.


premature ovarian failure 7

description: Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.


cataract 34 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.


name: autosomal recessive optic atrophy, OPA7 type


name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.


name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.


name: palmoplantar keratoderma, nonepidermolytic, focal 1

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


encephalocraniocutaneous lipomatosis

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


name: herpes simplex encephalitis, susceptibility to, 2


name: attention deficit-hyperactivity disorder, susceptibility to, 7


type 1 diabetes mellitus 24

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.


lymphoproliferative syndrome 1

description: A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..


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


neuroblastoma, susceptibility to, 3

description: Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.


name: bronchiectasis with or without elevated sweat chloride 2

description: Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.


name: follicular lymphoma, susceptibility to, 1


schizophrenia 13

description: A schizophrenia that has material basis in a mutation on chromosome 15q13.


chromosome 19q13.11 deletion syndrome

description: The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.


glycogen storage disease IXc

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


glioma susceptibility 2

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


glioma susceptibility 3

description: Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.


noise induced hearing loss

description: A condition in which a person loses the ability to hear due to exposure to high intensity sound.


name: combined pituitary hormone deficiencies, genetic form

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


name: basal cell carcinoma, susceptibility to, 2


name: basal cell carcinoma, susceptibility to, 3


name: epilepsy, idiopathic generalized, susceptibility to, 10

description: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.


name: basal cell carcinoma, susceptibility to, 4


name: basal cell carcinoma, susceptibility to, 5


name: basal cell carcinoma, susceptibility to, 6


dermatitis, atopic, 7

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5.


name: leukemia, acute lymphocytic, susceptibility to, 1


name: leukemia, acute lymphocytic, susceptibility to, 2


name: neurodegenerative syndrome due to cerebral folate transport deficiency

description: A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.


name: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

description: Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.


name: bronchiectasis with or without elevated sweat chloride 3

description: Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.


metaphyseal anadysplasia 2

description: Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.


name: autosomal dominant nonsyndromic hearing loss 50

description: An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.


RIN2 syndrome

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


name: congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


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

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


description: Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.


name: autosomal recessive nonsyndromic hearing loss 77

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.


atrial septal defect 6

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.


name: pelvic organ prolapse, susceptibility to, 2


CLAPO syndrome

description: CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).


asphyxiating thoracic dystrophy 3

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.


name: familial juvenile hyperuricemic nephropathy type 2

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


cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.


isolated microphthalmia 4

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.


polycystic kidney disease 2

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


hereditary spastic paraplegia 36

description: Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.


name: melanoma, cutaneous malignant, susceptibility to, 5


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: familial hemophagocytic lymphohistiocytosis 5

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.


name: hereditary hypotrichosis with recurrent skin vesicles

description: Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.


choroidal dystrophy, central areolar 2

description: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


name: neutropenia, severe congenital, 2, autosomal dominant

description: Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.


candidiasis, familial, 4

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.


name: neuropathy, hereditary sensory and autonomic, type 2B

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


name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


hereditary antithrombin deficiency

description: A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).


Brugada syndrome 6

description: Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.


Brugada syndrome 7

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.


dilated cardiomyopathy 1CC

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


Brugada syndrome 8

description: Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.


name: hydrops fetalis, nonimmune, with gracile bones and dysmorphic features


parkinsonism-dystonia, infantile

description: Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.


name: systemic lupus erythematosus, susceptibility to, 14


inflammatory bowel disease 28

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.


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

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


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


name: muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

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


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


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

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


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

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


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

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


nephronophthisis-like nephropathy 1

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


beta-ureidopropionase deficiency

description: Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).


hereditary spastic paraplegia 45

description: Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.


GABA aminotransaminase deficiency

description: Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.


dilated cardiomyopathy 1DD

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.


chromosome 5p13 duplication syndrome

description: 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).


name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

description: A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13


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: polymicrogyria with optic nerve hypoplasia

description: A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.


name: intellectual disability, autosomal recessive 13

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.


primary ciliary dyskinesia 13

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.


retinitis pigmentosa 50

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.


name: congenital muscular dystrophy due to integrin alpha-7 deficiency

description: Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.


name: congenital muscular dystrophy due to LMNA mutation

description: Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.


hereditary spastic paraplegia 44

description: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.


name: asthma-related traits, susceptibility to, 8


name: amelogenesis imperfecta hypomaturation type 2A3

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.


chromosome 17p13.3 duplication syndrome

description: 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


name: congenital stationary night blindness 1C

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.


name: congenital diarrhea 5 with tufting enteropathy

description: Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.


leprosy, susceptibility to, 5

description: Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.


Noonan syndrome 6

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


factor XIII, A subunit, deficiency of

description: Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.


trichotillomania

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


factor XIII, b subunit, deficiency of

description: Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


focal segmental glomerulosclerosis 5

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.


name: spondyloarthropathy, susceptibility to, 3


name: thyrotoxic periodic paralysis, susceptibility to, 2

description: Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.


hypertrophic cardiomyopathy 13

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


Lynch syndrome 8

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM 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.


tuberous sclerosis 2

description: Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).


hypertrophic cardiomyopathy 15

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


Waardenburg syndrome type 4B

description: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.


Waardenburg syndrome type 4C

description: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.


corneal dystrophy, Fuchs endothelial, 3

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.


corneal dystrophy, Fuchs endothelial, 4

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.


corneal dystrophy, Fuchs endothelial, 6

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.


name: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


name: metabolic dysfunction-associated steatotic liver disease

description: Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver.


name: autosomal recessive nonsyndromic hearing loss 25

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.


dilated cardiomyopathy 1FF

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


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.


name: hearing loss, cisplatin-induced, susceptibility to


name: autosomal recessive nonsyndromic hearing loss 79

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


Diamond-Blackfan anemia 9

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.


Diamond-Blackfan anemia 10

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.


exudative vitreoretinopathy 5

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


name: hypophosphatemic rickets, autosomal recessive, 2

description: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.


hemochromatosis type 2B

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


name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type

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


name: rhabdoid tumor predisposition syndrome 2

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.


name: congenital generalized lipodystrophy type 4

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.


name: combined immunodeficiency with faciooculoskeletal anomalies

description: Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).


name: congenital plasminogen activator inhibitor type 1 deficiency

description: Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.


hot water reflex epilepsy

description: Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


Leber congenital amaurosis 14

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


brachydactylous dwarfism, Mseleni type

description: Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.


name: spondyloepimetaphyseal dysplasia, Handigodu type

description: A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.


pancreatic cancer, susceptibility to, 2

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.


pancreatic cancer, susceptibility to, 3

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.


name: susceptibility to mononeuropathy of the median nerve, mild


name: chromosome 17q23.1-q23.2 deletion syndrome

description: 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.


hereditary spastic paraplegia 41

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


name: maturity-onset diabetes of the young type 10

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


spinocerebellar ataxia type 30

description: Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.


name: maturity-onset diabetes of the young type 11

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


name: neuronopathy, distal hereditary motor, type 2C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


brachydactyly type E2

description: Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.


name: syndromic multisystem autoimmune disease due to ITCH deficiency


name: fatty liver disease, nonalcoholic, susceptibility to, 2


Fanconi renotubular syndrome 2

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


Fanconi anemia complementation group O

description: Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.


name: autosomal recessive nonsyndromic hearing loss 84A

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


name: autosomal recessive nonsyndromic hearing loss 85

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.


Warsaw breakage syndrome

description: A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.


name: breast-ovarian cancer, familial, susceptibility to, 3

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.


name: microcephaly, seizures, and developmental delay


name: arthrogryposis, renal dysfunction, and cholestasis 2

description: Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.


chromosome 15q24 deletion syndrome

description: 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.


Oguchi disease-2

description: Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.


dilated cardiomyopathy 1R

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


dilated cardiomyopathy 1S

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


retinitis pigmentosa 54

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


amyotrophic lateral sclerosis type 12

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


name: intellectual disability, autosomal dominant 20

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


distal 16p11.2 microdeletion syndrome

description: Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.


name: frontonasal dysplasia with alopecia and genital anomaly

description: Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.


name: autosomal recessive nonsyndromic hearing loss 91

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.


Rett syndrome, congenital variant

description: An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life.


name: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome


chromosome 14q11-q22 deletion syndrome

description: 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.


chromosome 16p13.3 duplication syndrome

description: 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.


retinitis pigmentosa 51

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


name: hemolytic anemia due to glucophosphate isomerase deficiency

description: Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.


Reynolds syndrome

description: An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).


name: developmental and epileptic encephalopathy, 5

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.


lymphatic malformation 3

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.


long QT syndrome 13

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.


myxoid liposarcoma

description: A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.


name: COG4-congenital disorder of glycosylation

description: COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.


alpha 1-antitrypsin deficiency

description: Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.


immunodeficiency, common variable, 5

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.


immunodeficiency, common variable, 6

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.


name: agammaglobulinemia 2, autosomal recessive

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


name: agammaglobulinemia 3, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.


name: agammaglobulinemia 4, autosomal recessive

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


name: agammaglobulinemia 5, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.


glycogen storage disease XV

description: Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.


chromosome 4q21 deletion syndrome

description: The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.


isolated microphthalmia 6

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.


dermatitis, atopic, 8

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1.


dermatitis, atopic, 9

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24.


name: myeloid neoplasm associated with FGFR1 rearrangement

description: Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.


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

description: Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.


name: chromosome 17q21.31 duplication syndrome

description: The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.


commissural facial cleft

description: Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)


aromatase deficiency

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


nephronophthisis 11

description: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.


name: autoimmune disease, susceptibility to, 6

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


von Willebrand disease 2

description: Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).


name: autosomal dominant nonsyndromic hearing loss 51

description: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.


name: combined oxidative phosphorylation defect type 7

description: Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.


name: myopathy, lactic acidosis, and sideroblastic anemia 2

description: Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.


CBL-related disorder

description: CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.