| Entry |
Name |
Description |
Category |
Pathway |
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H02968
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Curry-Jones syndrome
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Curry-Jones syndrome (CRJS) is a rare multiple malformation disorder associated with brain and skull abnormalities, polysyndactyly, and defects of the eyes, skin and gastrointestinal tract. It has been ...
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Congenital malformation
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H02969
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Hardikar syndrome
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Hardikar syndrome (HDKR) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition ...
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Congenital malformation
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H02970
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Neurodevelopmental disorder with epilepsy and hemochromatosis
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Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH), also known as Ferro-Cerebro-Cutaneous syndrome, is a rare X-linked syndrome associated with neurodegeneration, cutaneous abnormalities ...
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Inherited metabolic disorder
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H02971
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VEXAS syndrome
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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease with rheumatologic and hematologic features. It has been reported that somatic ...
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Immune system disease
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H02972
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Chronic benign proteinuria
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Chronic benign proteinuria (PROCHOB) is an autosomal recessive condition caused by C-terminal CUBN variants, leading to isolated proteinuria without kidney dysfunction and hypoalbuminemia. CUBN encodes ...
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Inherited metabolic disorder
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H02973
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Parkinsonism with polyneuropathy
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Parkinsonism with polyneuropathy (PKNPY) is a rare late-onset autosomal dominant parkinsonism with axonal type predominant sensorimotor polyneuropathy. It has been reported that mutations in UQCRC1 cause ...
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Nervous system disease
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H02974
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Blepharophimosis-impaired intellectual development syndrome
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Blepharophimosis-impaired intellectual development syndrome (BIS) is a rare genetic syndrome characterized by epicanthal folds, blepharophimosis, and downturned nasal tip along with variable degree of ...
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Congenital malformation
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H02975
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X-linked female-restricted neurodegenerative disorder with parkinsonism and cognitive impairment
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X-linked female-restricted neurodegenerative disorder with parkinsonism and cognitive impairment (NDPACX) is a novel atypical parkinsonism in females with SLC9A6 mutations. SLC9A6 encodes sodium/hydrogen ...
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Nervous system disease
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H02976
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Waisman syndrome
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Waisman syndrome (WSMN) is a rare X-linked condition characterized by intellectual disability and early-onset parkinsonism with basal ganglia calcification. In females, the clinical signs tend to be milder ...
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Congenital malformation
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H02977
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Punctiform and polychromatic pre-Descemet corneal dystrophy
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Punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) is a rare autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma ...
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Nervous system disease
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H02978
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FICUS syndrome
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FICUS syndrome (FICUS) is a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal ...
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Congenital malformation
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H02979
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Fetomaternal alloimmune thrombocytopenia
Neonatal alloimmune thrombocytopenia
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Fetomaternal alloimmune thrombocytopenia (FMAIT), also known as neonatal alloimmune thrombocytopenia (NAIT), is a relatively uncommon disease, but is the leading cause of severe thrombocytopenia in the ...
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Hematologic disease
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H02980
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Cognitive impairment with or without cerebellar ataxia
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Cognitive impairment with or without cerebellar ataxia (CIAT) is a rare genetic neurological disorder characterized by motor and cognitive deficits of variable expressivity. This disease is caused by mutations ...
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Nervous system disease
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H02981
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Neurooculorenal syndrome
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Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder caused by mutations in the ROBO1 gene, characterized by kidney and genitourinary abnormalities, including unilateral or ...
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Congenital malformation
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H02982
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Congenital heart defects and skeletal malformations syndrome
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Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant disorder caused by mutations in the ABL1 gene. It is characterized by congenital heart defects, skeletal ...
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Congenital malformation
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H02983
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Leukodystrophy and cerebellar atrophy
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Leukodystrophy and cerebellar atrophy (LDCA) is a rare neurodevelopmental disorder characterized by cerebellar ataxias, developmental delay, and intellectual disability. It has been reported that mutations ...
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Congenital malformation
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H02984
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Clark-Baraitser syndrome
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Clark-Baraitser syndrome (CLABARS) is a rare autosomal dominant intellectual disability syndrome characterized by intellectual disability, which may be accompanied by autism spectrum disorder (ASD), speech ...
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Congenital malformation
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H02985
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Oculovertebral syndrome
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Oculovertebral syndrome (OVS) is a novel autosomal dominant syndrome characterized by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities. It has been reported that mutations ...
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Congenital malformation
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H02986
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Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
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Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) is a rare hereditary disorder caused by mutations in GEMIN4, a component of the SMN complex. The SMN complex is ...
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Congenital malformation
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H02987
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Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
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Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is a novel autosomal recessive disorder characterized by developmental delay, hypotonia, and cerebellar ataxia. It has ...
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Congenital malformation
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H02988
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Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
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Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by profound global developmental delay, severe intellectual ...
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Congenital malformation
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H02989
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Developmental delay with or without epilepsy
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Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by milder phenotypes of developmental delay with or without seizures. DEVEP ...
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Nervous system disease
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H02990
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Neurodevelopmental disorder with central and peripheral motor dysfunction
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Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement ...
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Congenital malformation
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H02991
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Alsahan-Harris syndrome
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Alsahan-Harris syndrome (ALHAS) is a severe autosomal recessive prenatal ciliopathy associated with life-limiting congenital anomalies. It has been reported that mutations in TBC1D32 cause this syndrome ...
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Congenital malformation
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H02992
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Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
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Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (NEDAPA) is a novel syndrome that is similar to triple A syndrome [DS:H00257]. The affected individuals present with intellectual ...
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Congenital malformation
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H02993
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Developmental delay, dysmorphic facies, and brain anomalies
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Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) is a novel neurodevelopmental disorder characterized by global developmental delay, systemic dysmorphism, and epilepsy. It has been ...
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Congenital malformation
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H02994
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Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech
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Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech (NEDGQS) is a novel autosomal recessive syndrome caused by mutations in INPP4A. It has been reported that biallelic ...
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Congenital malformation
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H02995
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Harel-Tora neurodevelopmental syndrome
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Harel-Tora neurodevelopmental syndrome (HATONS) is a novel syndrome characterized by global motor and language developmental delay, hypotonia and distinctive facial characteristics. It has been reported ...
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Congenital malformation
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H02996
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Neurocardiorenal malformation syndrome
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Neurocardiorenal malformation syndrome (NCRMS) is a severe autosomal recessive neurodevelopmental disorder associated with microcephaly, facial features, and multi-organ involvement. It has been reported ...
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Congenital malformation
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H02997
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Neurodevelopmental disorder with seizures and joint laxity
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Neurodevelopmental disorder with seizures and joint laxity (NEDSJL) is a novel neurodevelopmental disorder characterized by global developmental delay, hypotonia, macrocephaly and failure to thrive. It ...
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Congenital malformation
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H02998
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Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
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Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (NEDHFDB) is a severe neurodevelopmental disorder featuring variable manifestations. Clinical ...
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Congenital malformation
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H02999
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Congenital nonspherocytic hemolytic anemia
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Congenital non-spherocytic hemolytic anemia (CNSHA) is a group of genetic disorders affecting genes encoding red blood cell enzymes. The severity of hemolysis is variable, ranging from mild or fully compensated ...
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Hematologic disease
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H03000
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Infection-induced acute-onset axonal neuropathy
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Infection-induced acute-onset axonal neuropathy (IIAAN) is a severe, acute-onset axonal neuropathy following infection. Mutations in RCC1 were identified in affected individuals with autosomal recessive ...
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Nervous system disease
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H03001
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Dursun-Ozgul neurodevelopmental syndrome
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Dursun-Ozgul neurodevelopmental syndrome (DONDS) is a novel autosomal recessive syndrome characterized by developmental and epileptic encephalopathy, autistic features, pyramidal signs, joint laxity, ...
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Congenital malformation
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H03002
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Xerosis and growth failure with immune and pulmonary dysfunction syndrome
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Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is a novel autosomal recessive disorder characterized by early lethality severe developmental defects. Consistent features ...
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Congenital malformation
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H03003
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Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis
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Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis (CHINE) is a novel syndrome. It has been reported that mutations in DKC1 or NOP10 cause this syndrome. DKC1 and NOP10 belong to a family ...
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Congenital malformation
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H03004
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RECON progeroid syndrome
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RECON progeroid syndrome (RECON) is a novel genome instability disorder. The affected individuals have short stature, progeroid facial features, a hypoplastic nose, xeroderma, and skin photosensitivity ...
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Congenital malformation
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H03005
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X-linked atrophic macular degeneration
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X-linked atrophic macular degeneration is a severe peripheral retinal degeneration leading to global blindness. It has been reported that affected males had primarily macular atrophy causing progressive ...
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Nervous system disease
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H03006
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Rabin-Pappas syndrome
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Rabin-Pappas syndrome (RAPAS) is a novel syndrome associated with the heterozygous variant c.5218C>T p.(Arg1740Trp) in SETD2. The phenotype of this syndrome includes microcephaly, profound intellectual ...
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Congenital malformation
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H03007
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Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
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Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (NEDSTO) is an autosomal recessive neurologic disorder characterized by mild neurodevelopmental delay, axial muscular ...
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Congenital malformation
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