| Entry |
Name |
Description |
Category |
Pathway |
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H02688
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Dworschak-Punetha neurodevelopmental syndrome
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Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is a novel neurodevelopmental syndrome mainly comprising developmental delay, brain, and eye anomalies. It has been reported that mutations in PLXNA1 ...
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Congenital malformation
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H02689
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Retinal dystrophy with leukodystrophy
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Retinal dystrophy with leukodystrophy (RDLKD) is a defect in peroxisomal very long-chain fatty acid metabolism. It has been reported that mutations in ACBD5 cause this disease. ACBD5 encodes a peroxisomal ...
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Inherited metabolic disorder
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H02690
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Structural heart defects and renal anomalies syndrome
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Structural heart defects and renal anomalies syndrome (SHDRA) is a severe developmental disorder associated with congenital cardiac malformations and early childhood mortality. It has been reported that ...
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Inherited metabolic disorder
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H02691
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Scalp-ear-nipple syndrome
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Scalp-ear-nipple syndrome (SENS) is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. It has been reported ...
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Congenital malformation
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H02692
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Usmani-Riazuddin syndrome
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Usmani-Riazuddin syndrome is a neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. It has been reported that mutations in AP1G1 cause this disease. AP1G1 encodes ...
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Nervous system disease
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H02693
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Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay
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Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial ...
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Nervous system disease
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H02694
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Alazami-Yuan syndrome
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Alazami-Yuan syndrome (ALYUS) is an autosomal-recessive disorder with Cornelia de Lange syndrome-like features [DS:H00631]. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional ...
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Congenital malformation
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H02695
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Fibrosis, neurodegeneration, and cerebral angiomatosis
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Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is a novel autosomal recessive disease characterized by early-onset cerebropulmonary symptoms, malabsorption, growth failure, recurrent infections ...
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Congenital malformation
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H02696
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Early-onset epilepsy
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Early-onset epilepsy (EPEO) is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders ...
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Nervous system disease
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H02697
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Long-Olsen-Distelmaier syndrome
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Long-Olsen-Distelmaier syndrome (LNGODS) is a syndromic fetal dilated cardiomyopathy associated with hepatopathy and brain abnormalities. It has been reported that gain-of-function mutations in RRAGC cause ...
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Congenital malformation
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H02698
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Trichohepatoneurodevelopmental syndrome
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Trichohepatoneurodevelopmental syndrome (THNS) is a rare autosomal recessive disease characterized by woolly hair, liver dysfunction, dysmorphic features, hypotonia, and global developmental delay. It ...
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Congenital malformation
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H02699
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Folate-responsive megaloblastic anemia
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Folate-responsive megaloblastic anemia (MEGAF) is a severe recurrent megaloblastic anemia caused by mutations in SLC19A1. It has been reported that the laboratory abnormalities and clinical signs were ...
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Inherited metabolic disorder
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H02700
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Intellectual developmental disorder with speech delay and dysmorphic facies
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Intellectual developmental disorder (IDD) with speech delay and dysmorphic facies is a group of disorders characterized by speech difficulty and intellectual disability. It has been reported that mutations ...
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Mental and behavioural disorder
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H02701
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Recurrent metabolic crises with variable encephalomyopathic features
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Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is a novel form of mitochondrial myopathy. It has been reported that mutations in SLC25A42 cause ...
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Inherited metabolic disorder, Mitochondrial disease
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H02702
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Tylosis with esophageal cancer
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Tylosis with esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported ...
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Congenital malformation
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H02703
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VISS syndrome
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VISS syndrome (vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity) is a syndromic connective tissue disorder caused by bi-allelic mutations in IPO8. Importin 8, encoded ...
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Congenital malformation
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H02704
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Mitochondrial myopathy and ataxia
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Mitochondrial myopathy and ataxia (MMYAT) is a rare disease characterized by early-onset myopathy and cerebellar ataxia. It has been reported that mutations in MSTO1 cause this disease. MSTO1 is a soluble ...
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Nervous system disease
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H02705
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Neurodevelopmental disorder with glutamatergic synapse dysfunction
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Glutamate is the major excitatory neurotransmitter in the central nervous system (CNS) and mediates its actions via activation of both ionotropic and metabotropic receptor families. Recent studies have ...
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Nervous system disease
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H02706
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Early-onset dystonia and/or spastic paraplegia
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Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurological disease caused by mutations in ATP5MC3. ATP5MC3 encodes the c subunit of mitochondrial complex V.
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Nervous system disease
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H02707
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Khan-Khan-Katsanis syndrome
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Khan-Khan-Katsanis syndrome (3KS) is a neurodevelopmental disorder with microcephaly. NCAPG2 encodes a member of the condensin II complex, necessary for the condensation of chromosomes prior to cell division
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Congenital malformation
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H02708
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Baralle-Macken syndrome
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Baralle-Macken syndrome (BARMACS) is a novel severe neurodevelopmental syndrome with cataracts and variable microcephaly. It has been reported that mutations in COPB1 cause this disease. COPB1 encodes ...
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Congenital malformation
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H02709
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Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect
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The aminoacyl-tRNA synthetases (aaRSs) are an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon ...
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Congenital malformation
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H02710
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Yuksel-Vogel-Bauer syndrome
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Yuksel-Vogel-Bauer syndrome (YUVOB) is a multisystemic disorder caused by mutations in DLG5. Patients have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities ...
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Congenital malformation
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H02711
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Acetyl-CoA carboxylase-alpha deficiency
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Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is a rare autosomal recessive inborn error of metabolism caused by mutations in ACACA. ACACAD is characterized by hypotonia, motor and intellectual developmental ...
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Inherited metabolic disorder
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H02712
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Li-Campeau syndrome
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Li-Campeau syndrome (LICAS) is a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Mutations in UBR7 cause this disease. UBR7 is an E3 ligase protein with recognizable UBR-box and ...
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Congenital malformation
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H02713
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Inflammatory poikiloderma with hair abnormalities and acral keratoses
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Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a novel autosomal recessive dermatological condition caused by mutations in LTV1. LTV1 encodes one of the ribosome biogenesis ...
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Congenital malformation
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H02714
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Tessadori-Bicknell-van Haaften neurodevelopmental syndrome
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Tessadori-Bicknell-van Haaften neurodevelopmental syndrome (TEBIVANED) is a novel syndrome caused by missense mutations in H4 genes. This syndrome is characterized by intellectual disability, motor and ...
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Congenital malformation
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H02715
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Neurodevelopmental disorder with defects of ubiquitin-proteasome system
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The ubiquitin-proteasome system (UPS) is the major proteolytic system that controls protein degradation and it regulates many cellular processes, such as cell division, gene expression and signal transduction ...
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Congenital malformation
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H02716
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Becker nevus syndrome
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Becker nevus syndrome (BNS) is a epidermal nevus syndrome characterized by the presence of a particular type of organoid epithelial nevus showing circumscribed hyperpigmentation with hypertrichosis, and ...
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Congenital malformation
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H02717
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Contractures, pterygia, and spondylocarpotarsal fusion syndrome
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Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or ...
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Congenital malformation
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H02718
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Autosomal dominant pontine microangiopathy and leukoencephalopathy
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Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease characterized by multiple small infarctions in the pons. Mutations causing ...
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Congenital malformation
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H02719
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Multifocal fibromuscular dysplasia
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Multifocal fibromuscular dysplasia (FMDMF) is one form of dysplasia-associated arterial disease characterized histologically by medial fibroplasia, and angiographically by multiple arterial stenoses with ...
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Cardiovascular disease
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H02720
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Meester-Loeys syndrome
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Meester-Loeys syndrome (MRLS) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome. In addition to the aorta, aneurysms in the brain, pulmonary artery, and ductus arteriosus have been ...
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Cardiovascular disease
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H02721
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Scapulohumeroperoneal myopathy
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Scapulohumeroperoneal myopathy (SHPM) is an autosomal dominant slowly progressive scapuloperoneal neuromuscular disorder. Clinical characteristics include mild lower facial weakness, foot drop due to foot ...
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Nervous system disease; Musculoskeletal disease
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H02722
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Nevus comedonicus
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Nevus comedonicus (NC) is an organoid epidermal nevus characterized by monomorphic, large, open comedones occurring on a noninflammatory background and following the lines of Blaschko. The cause of NC ...
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Congenital malformation
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H02723
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Macrocephaly/autism syndrome
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Macrocephaly/autism syndrome refers to a subset of individuals within the autism spectrum with extreme macrocephaly or head circumference more than two standard deviations above the mean. The association ...
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Congenital malformation
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H02724
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Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
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Combined osteogenesis imperfecta and Ehlers-Danlos syndrome (OIEDS) is a generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures ...
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Congenital malformation
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H02725
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Heart-hand syndrome
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Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. HHS includes the most common ...
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Congenital malformation
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H02726
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Kaya-Barakat-Masson syndrome
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Kaya-Barakat-Masson syndrome (KABAMAS) is a recently identified neurodevelopmental disorder characterized by severe global developmental delay, epilepsy, movement disorder, and microcephaly. It has been ...
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Congenital malformation
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H02727
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Triokinase and FMN cyclase deficiency syndrome
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Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with ...
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Inherited metabolic disorder
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