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.


cone-rod dystrophy 18

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

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.


name: autosomal recessive nonsyndromic hearing loss 24

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


name: capillary malformation-arteriovenous malformation 1


dilated cardiomyopathy 1DD

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


microphthalmia, syndromic 12

description: Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.


name: syndromic X-linked intellectual disability Shashi type

description: X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.


name: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


Charcot-Marie-Tooth disease type 2B

description: Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.


choroideremia

description: Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.


name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


cone-rod dystrophy 20

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.


name: breast-ovarian cancer, familial, susceptibility to, 4

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.


Costello syndrome

description: Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


linear nevus sebaceous syndrome

description: Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).


Noonan syndrome 6

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


name: autoimmune lymphoproliferative syndrome type 4

description: RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.


large congenital melanocytic nevus

description: A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.


neurocutaneous melanocytosis

description: Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.


Fanconi anemia complementation group O

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


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.


age related macular degeneration 6

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.


cone-rod dystrophy 11

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.


name: developmental and epileptic encephalopathy, 55


name: glycosylphosphatidylinositol biosynthesis defect 16


name: glycosylphosphatidylinositol biosynthesis defect 17


name: familial cold autoinflammatory syndrome 3

description: A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.


name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


name: PLIN1-related familial partial lipodystrophy


Charcot-Marie-Tooth disease type 1A

description: Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.


name: hereditary neuropathy with liability to pressure palsies

description: Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.


Charcot-Marie-Tooth disease type 1E

description: A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.


Guillain-Barre syndrome, familial

description: A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


Wilms tumor 5

description: Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.


nephrotic syndrome, type 2

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.


ALDH18A1-related de Barsy syndrome

description: ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.


cutis laxa, autosomal dominant 3

description: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.


name: autosomal recessive complex spastic paraplegia type 9B

description: Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


oocyte maturation defect 4

description: An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects.


name: phosphoenolpyruvate carboxykinase deficiency, cytosolic

description: PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).


name: hypercholesterolemia, autosomal dominant, 3

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


name: peroxisome biogenesis disorder 12A (Zellweger)


name: combined immunodeficiency due to partial RAG1 deficiency

description: A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.


Smith-Magenis syndrome

description: Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.


name: pterin-4 alpha-carbinolamine dehydratase 1 deficiency

description: Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.


prolidase deficiency

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


name: familial hemophagocytic lymphohistiocytosis 2

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


name: peroxisome biogenesis disorder 13A (Zellweger)


name: peroxisome biogenesis disorder 1A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 1B

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


otofaciocervical syndrome 2

description: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.


tooth agenesis, selective, 3

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


cerebral cavernous malformation 3

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


name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

description: Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.


Gordon syndrome

description: An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.


Marden-Walker syndrome

description: Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.


name: arthrogryposis, distal, with impaired proprioception and touch


ataxia with oculomotor apraxia type 3

description: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.


cataract 11 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.


name: X-linked dominant hypophosphatemic rickets

description: X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.


name: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


name: multiple congenital anomalies-hypotonia-seizures syndrome 1

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


name: multiple congenital anomalies-hypotonia-seizures syndrome 3

description: A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.


paroxysmal nocturnal hemoglobinuria 2

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


name: hyperphosphatasia with intellectual disability syndrome 5

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


polycystic kidney disease 4

description: A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.


name: arrhythmogenic right ventricular dysplasia 9

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

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


name: mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

description: Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.


Perrault syndrome 5

description: Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.


name: hyperphosphatasia with intellectual disability syndrome 4

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


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 1

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.


isolated congenital digital clubbing

description: Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.


name: autosomal recessive early-onset Parkinson disease 7

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


renal coloboma syndrome

description: Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.


focal segmental glomerulosclerosis 7

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.


van Maldergem syndrome 1

description: Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.


retinitis pigmentosa 40

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.


name: congenital stationary night blindness autosomal dominant 2

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.


cone dystrophy 4

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


osteogenesis imperfecta type 6

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.


name: linear skin defects with multiple congenital anomalies 3

description: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.


name: X-linked intellectual disability, Cantagrel type

description: X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.


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

description: A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.


spinocerebellar ataxia 43

description: Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.


name: congenital disorder of glycosylation, type IAA


name: intellectual disability, autosomal dominant 55, with seizures


name: hypogonadotropic hypogonadism 11 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.


pontocerebellar hypoplasia type 3

description: Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.


name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

description: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.


MHC class II deficiency

description: Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.


name: syndromic X-linked intellectual disability 14

description: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.


Noonan syndrome 8

description: Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.


Adams-Oliver syndrome 1

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.


name: palmoplantar keratoderma-esophageal carcinoma syndrome

description: An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.


Leber congenital amaurosis 13

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


Rh deficiency syndrome

description: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.


overhydrated hereditary stomatocytosis

description: Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.


name: developmental and epileptic encephalopathy, 64


name: spondylocostal dysostosis 6, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.


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.


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.


Bartsocas-Papas syndrome 1

description: A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.


Diamond-Blackfan anemia 12

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.


Diamond-Blackfan anemia 3

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.


Diamond-Blackfan anemia 10

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


name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

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


Diamond-Blackfan anemia 13

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.


Senior-Loken syndrome 9

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.


persistent Mullerian duct syndrome

description: Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.


Waardenburg syndrome type 2A

description: Waardenburg syndrome Type 2 caused by mutations in the MITF gene.


Tietz syndrome

description: Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.


name: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3


name: coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness


McKusick-Kaufman syndrome

description: McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.


name: encephalopathy due to hydroxykynureninuria

description: Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.


name: vertebral, cardiac, renal, and limb defects syndrome 2


name: congenital merosin-deficient muscular dystrophy 1A

description: Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.


name: palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

description: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.


name: syndromic X-linked intellectual disability Claes-Jensen type


aortic aneurysm, familial thoracic 8

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.


name: junctional epidermolysis bullosa Herlitz type

description: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.


laryngo-onycho-cutaneous syndrome

description: LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.


cerebral cavernous malformation 1

description: A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.


pyruvate kinase hyperactivity

description: Autosomal dominant phenotype characterized by increase of red blood cell ATP.


pyruvate kinase deficiency of red cells

description: Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.


name: ectodermal dysplasia 13, hair/tooth type


Danon disease

description: A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.


name: erythrokeratodermia variabilis et progressiva 4


hereditary spastic paraplegia 30

description: Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.


neuropathy, hereditary sensory, type 2C

description: Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.


name: intellectual disability, autosomal dominant 9

description: An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.


name: spondyloepimetaphyseal dysplasia with multiple dislocations

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


hereditary spastic paraplegia 10

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


name: amyotrophic lateral sclerosis, susceptibility to, 25


pseudohypoaldosteronism type 2D

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.


PERCHING syndrome

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.


retinitis pigmentosa 42

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


name: microcephaly 4, primary, autosomal recessive


name: autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

description: Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.


monilethrix

description: Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.


name: congenital high-molecular-weight kininogen deficiency

description: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


ectodermal dysplasia 4, hair/nail type

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


lissencephaly 6 with microcephaly

description: Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.


primary ciliary dyskinesia 10

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


name: spondyloepimetaphyseal dysplasia, Missouri type

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


name: metaphyseal chondrodysplasia, Spahr type


Winchester syndrome

description: An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.


dilated cardiomyopathy 1JJ

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.


Norum disease

description: A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.


fish eye disease

description: Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.


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

description: A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.


hypercholesterolemia, familial, 1

description: An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.


name: cobblestone lissencephaly without muscular or ocular involvement

description: Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.


metaphyseal anadysplasia 2

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


name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

description: A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.


MASA syndrome

description: MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.


description: X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.


Charcot-Marie-Tooth disease type 2A1

description: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.


spastic ataxia 2

description: Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.


name: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

description: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.


intellectual disability, X-linked 103

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.


name: epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


name: congenital heart defects and ectodermal dysplasia


intellectual disability, X-linked 100

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


name: hyperimmunoglobulinemia D with periodic fever

description: Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).


name: porokeratosis 3, disseminated superficial actinic type


name: complex cortical dysplasia with other brain malformations 2

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.


hydrolethalus syndrome 2

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.


acrocallosal syndrome

description: Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


name: multiple epiphyseal dysplasia, Al-Gazali type

description: Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.


spermatogenic failure 11

description: Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.


inherited prekallikrein deficiency

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


Buschke-Ollendorff syndrome

description: Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.


name: cleft lip/palate-ectodermal dysplasia syndrome

description: An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.


name: ectodermal dysplasia-syndactyly syndrome 1

description: Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.


periventricular nodular heterotopia 7

description: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.


name: intellectual disability, autosomal recessive 57

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.


NEK9-related lethal skeletal dysplasia

description: NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


nevus comedonicus syndrome

description: A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


name: arthrogryposis, Perthes disease, and upward gaze palsy


description: The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.


Fanconi anemia complementation group V

description: Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.


glucocorticoid deficiency 4

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.


FG syndrome 1

description: Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.


name: X-linked intellectual disability with marfanoid habitus

description: The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.


name: blepharophimosis - intellectual disability syndrome, MKB type

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


spinocerebellar ataxia type 36

description: Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.


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.


MEGF8-related Carpenter syndrome

description: Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.


Allan-Herndon-Dudley syndrome

description: A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.


name: MPI-congenital disorder of glycosylation

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


name: autosomal recessive spinocerebellar ataxia 2

description: The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.


name: multiple mitochondrial dysfunctions syndrome 6


name: MPDU1-congenital disorder of glycosylation

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.


name: mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


name: 3-methylcrotonyl-CoA carboxylase 1 deficiency

description: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.


Charcot-Marie-Tooth disease type 2B2

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


name: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome


premature ovarian failure 5

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


name: MGAT2-congenital disorder of glycosylation

description: MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).


mitochondrial DNA depletion syndrome 11

description: Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.


juvenile idiopathic arthritis

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


methylmalonic aciduria, cblB type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


xanthinuria type II

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


name: combined oxidative phosphorylation deficiency 35


cardiofaciocutaneous syndrome 4

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.


description: Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.


name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

description: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.


nephronophthisis 9

description: Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.


renal-hepatic-pancreatic dysplasia 2

description: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.


name: autosomal dominant pseudohypoaldosteronism type 1

description: Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.


pseudohyperaldosteronism type 2

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


name: transposition of the great arteries, dextro-looped

description: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.


name: cardiac anomalies - developmental delay - facial dysmorphism syndrome


name: intellectual disability, autosomal recessive 44

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.


name: Colorectal Cancer, Hereditary Nonpolyposis, Type 7


name: MOGS-congenital disorder of glycosylation

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


narcolepsy 7

description: Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.


name: 3-methylcrotonyl-CoA carboxylase 2 deficiency

description: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.


mucolipidosis type IV

description: A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.


Keutel syndrome

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


left ventricular noncompaction 7

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.


name: proximal myopathy with extrapyramidal signs

description: Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.


Meckel syndrome, type 1

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


Bardet-Biedl syndrome 13

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.


Joubert syndrome 28

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


Meckel syndrome, type 3

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.


Joubert syndrome 6

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.


COACH syndrome 1

description: Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.


nephronophthisis 11

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


amyotrophic lateral sclerosis type 21

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


name: intellectual disability, autosomal dominant 1

description: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.


psoriasis 1, susceptibility to

description: Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.


name: methylmalonic aciduria and homocystinuria type cblD

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.


methylmalonic aciduria, cblA type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.


name: factor V and factor VIII, combined deficiency of, type 1

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.


exfoliation syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing exfoliation syndrome.


loricrin keratoderma

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


cornea plana 2

description: Any cornea plana in which the cause of the disease is a mutation in the KERA gene.


glycogen storage disease IXa1

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.


L-2-hydroxyglutaric aciduria

description: L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.


name: muscular dystrophy-dystroglycanopathy type B6

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.


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.


Wilson-Turner syndrome

description: A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.


name: multicentric osteolysis, nodulosis, and arthropathy

description: A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.


Pelger-Huet anomaly

description: An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.


Greenberg dysplasia

description: A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.


Reynolds syndrome

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


Leber congenital amaurosis 5

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


epilepsy, familial temporal lobe, 1

description: An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.


familial lipoprotein lipase deficiency

description: Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.


name: autosomal recessive congenital ichthyosis 3

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


acheiropody

description: Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.


syndactyly type 4

description: A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).


Donnai-Barrow syndrome

description: Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.


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.


lipase deficiency, combined

description: A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.


name: myoglobinuria, acute recurrent, autosomal recessive


cataract 46 juvenile-onset

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.


name: obesity due to congenital leptin deficiency

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


name: LIPE-related familial partial lipodystrophy


hypertriglyceridemia 1

description: A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.


name: pancreatic triacylglycerol lipase deficiency

description: An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.


name: obesity due to leptin receptor gene deficiency

description: Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


name: short stature-pituitary and cerebellar defects-small sella turcica syndrome

description: Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).


Stüve-Wiedemann syndrome 1

description: A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.


name: intellectual disability, autosomal recessive 27

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.


name: adult-onset autosomal dominant demyelinating leukodystrophy

description: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.


lipoic acid synthetase deficiency

description: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


name: autosomal recessive congenital ichthyosis 8

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


name: intellectual disability, autosomal recessive 52

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.


cataract 19 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.


name: hyperlipidemia due to hepatic triglyceride lipase deficiency

description: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.


name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant

description: Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.


name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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


dilated cardiomyopathy 1A

description: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.


name: familial partial lipodystrophy, Dunnigan type

description: Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.


Charcot-Marie-Tooth disease type 2B1

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


Hutchinson-Gilford progeria syndrome

description: Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).


name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

description: A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).


name: mandibuloacral dysplasia with type A lipodystrophy

description: A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.


heart-hand syndrome, Slovenian type

description: A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.


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.


congenital lactase deficiency

description: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.


name: coronary artery disease, autosomal dominant 2

description: Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


tooth agenesis, selective, 7

description: Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.


name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome


infantile liver failure syndrome 2

description: Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.


name: autosomal recessive nonsyndromic hearing loss 67

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.


cholesteryl ester storage disease

description: A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.


lissencephaly due to LIS1 mutation

description: Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


Miller-Dieker lissencephaly syndrome

description: A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.


Rafiq syndrome

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.


cataract 21 multiple types

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


multiple epiphyseal dysplasia type 5

description: Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.


name: spondyloepimetaphyseal dysplasia, matrilin-3 type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.


osteoarthritis susceptibility 2

description: Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


name: myocardial infarction, susceptibility to


glycogen storage disease II

description: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.


frontometaphyseal dysplasia 2

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.


cardiospondylocarpofacial syndrome

description: Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.


name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

description: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.


name: severe combined immunodeficiency due to LCK deficiency

description: An extremely rare autosomal recessive condition caused by mutation(s) in the LCK gene, encoding tyrosine-protein kinase Lck. It is characterized by T-cell dysfunction.


name: spondylocostal dysostosis 3, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.


Charcot-Marie-Tooth disease type 1C

description: Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.


Leber congenital amaurosis 14

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


Cenani-Lenz syndactyly syndrome

description: Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.


sclerosteosis 2

description: Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.


congenital myasthenic syndrome 17

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.


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


nephronophthisis 20

description: Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.


description: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.


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.


osteoporosis-pseudoglioma syndrome

description: Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.


name: autosomal dominant osteosclerosis, Worth type

description: A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.


autosomal dominant osteopetrosis 1

description: Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.


name: polycystic liver disease 4 with or without kidney cysts

description: An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.


aortic aneurysm, familial thoracic 10

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.


name: tubulointerstitial kidney disease, autosomal dominant, 2

description: An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.


name: autosomal dominant nonsyndromic hearing loss 66

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.


name: encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


keratosis pilaris atrophicans

description: An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.


gray platelet syndrome

description: Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.


Nijmegen breakage syndrome

description: Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.


name: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


Weill-Marchesani syndrome 3

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.


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


name: multicentric carpo-tarsal osteolysis with or without nephropathy

description: Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.


name: Duane retraction syndrome 3 with or without deafness

description: Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.


beta-mannosidosis

description: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.


name: amelogenesis imperfecta hypomaturation type 2A2

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


myofibrillar myopathy 7

description: Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.


name: methylmalonic aciduria and homocystinuria type cblF

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.


CODAS syndrome

description: Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.


hypotrichosis 8

description: Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.


oculocutaneous albinism type 7

description: Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.


name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY

description: An autosomal recessive common variable immunodeficiency caused by mutation(s) in the LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It is characterized by recurrent infections and the development of autoimmune disorders.


name: primary immunodeficiency syndrome due to p14 deficiency

description: Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.


retinitis pigmentosa 67

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.


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


name: non-acquired combined pituitary hormone deficiency with spine abnormalities

description: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.


hypotrichosis 7

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


nail-patella syndrome

description: A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.


name: lipodystrophy, partial, acquired, susceptibility to

description: An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.


progressive myoclonic epilepsy type 9

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.


nemaline myopathy 10

description: Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.


Majeed syndrome

description: Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.


name: familial male-limited precocious puberty

description: Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.


Leydig cell hypoplasia, type 1

description: Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.


name: methemoglobinemia due to deficiency of methemoglobin reductase


name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

description: Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.


urofacial syndrome 2

description: Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.


name: hypogonadotropic hypogonadism 23 with or without anosmia

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


description: An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.


patterned macular dystrophy 3

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.


name: 46,XX ovarian dysgenesis-short stature syndrome


name: X-linked intellectual disability-psychosis-macroorchidism syndrome


Rett syndrome

description: A severe neurodevelopmental disorder affecting the central nervous system.


name: severe neonatal-onset encephalopathy with microcephaly

description: An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.


name: syndromic X-linked intellectual disability Lubs type

description: Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.


name: agammaglobulinemia 5, autosomal dominant

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


name: autosomal recessive congenital ichthyosis 2

description: An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.


Noonan syndrome 10

description: Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.


alpha-mannosidosis

description: Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.


name: autosomal recessive nonsyndromic hearing loss 49

description: An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.


name: congenital stationary night blindness 1F

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.


autosomal dominant Parkinson disease 8

description: Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.


name: combined oxidative phosphorylation deficiency 19

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.


islet cell adenomatosis

description: A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.


name: combined immunodeficiency due to MALT1 deficiency

description: Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.


name: microcephaly 1, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.


premature ovarian failure 10

description: Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).


name: IFAP syndrome 1, with or without BRESHECK syndrome

description: An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.