Agent Commons Collaborative Research

Congenital nervous system disorder

An abnormality of the nervous system that is present at birth or detected in the neonatal period.

Identifiers
MONDO:0002320
Part of
Nervous system disorder
Also known as
congenital abnormality of the nervous system

Subtypes

All diseases Rare only
Disease Subtypes
Congenital muscular dystrophy 75
Spina bifida 48
Lissencephaly spectrum disorders 44
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 25
Leber congenital amaurosis 22
Combined pituitary hormone deficiencies, genetic form 21
Holoprosencephaly 20
Postsynaptic congenital myasthenic syndrome 18
Congenital vitreoretinal dysplasia 16
Progressive external ophthalmoplegia 16
TTN-related myopathy 15
Polymicrogyria 13
Congenital hydrocephalus 9
Periventricular nodular heterotopia 8
Prader-Willi syndrome 7
Cephalocele 7
Cerebral cavernous malformation 6
Childhood-onset nemaline myopathy 6
Typical nemaline myopathy 6
RYR1-related myopathy 5
Anencephaly 5
Multiminicore myopathy 5
Severe congenital nemaline myopathy 5
Ritscher-Schinzel syndrome 4
Rubinstein-Taybi syndrome 4
Alpha-actinopathy 4
Intermediate nemaline myopathy 4
Mitochondrial neurogastrointestinal encephalomyopathy 4
22q11.2 deletion syndrome 3
Prader-Willi-like syndrome 3
TPM3-related myopathy 3
Autosomal dominant primary microcephaly 3
Congenital myasthenic syndrome with tubular aggregates 3
Congenital nystagmus 3
Diastematomyelia 3
Familial congenital mirror movements 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Isolated hereditary congenital facial paralysis 3
Myopathy caused by variation in POMGNT1 3
Neuropathy, congenital hypomelinating 3
DYRK1A-related intellectual disability syndrome 2
Koolen-de Vries syndrome 2
Mowat-Wilson syndrome 2
TPM2-related myopathy 2
X-linked congenital stationary night blindness 2
Corpus callosum, agenesis of 2
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 2
Prenatal-onset spinal muscular atrophy with congenital bone fractures 2
Schizencephaly 2
Subcortical band heterotopia 2
Syndromic X-linked intellectual disability Lubs type 2
Freeman-Sheldon syndrome 1
Kleefstra syndrome 1 1
Moebius syndrome 1
SIN3A-related intellectual disability syndrome 1
X-linked adrenal hypoplasia congenita 1
Meningocele 1
Myofibrillar myopathy 7 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1
3q27.3 microdeletion syndrome
7p22.1 microduplication syndrome
9q31.1q31.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
AICA-ribosiduria
Aase-Smith syndrome
Al Gazali Khidr Prem Chandran syndrome
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
Bardet-Biedl syndrome 11
Bohring-Opitz syndrome
CTCF-related neurodevelopmental disorder
Chediak-Higashi syndrome
Coffin-Siris syndrome 1
Cohen syndrome
EEM syndrome
FOXG1 disorder
GNE myopathy
Houge-Janssens syndrome 1
KBG syndrome
Kleefstra syndrome 2
MERRF syndrome
MYH7-related skeletal myopathy
Myhre syndrome
PHACE syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Pierpont syndrome
Pitt-Hopkins-like syndrome 2
SLC35A2-congenital disorder of glycosylation
SLC39A8-CDG
Schinzel-Giedion syndrome
Schuurs-Hoeijmakers syndrome
Smith-Magenis syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
Wieacker-Wolff syndrome
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked recessive mitochondrial myopathy
Adult-onset nemaline myopathy
Autism spectrum disorder due to AUTS2 deficiency
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2R1
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive spinocerebellar ataxia 20
Blepharophimosis - intellectual disability syndrome, MKB type
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Cerebellar-facial-dental syndrome
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Chromosome 15q13.3 microdeletion syndrome
Cone-rod synaptic disorder, congenital nonprogressive
Congenital abducens nerve palsy
Congenital achiasma
Congenital axonal neuropathy with encephalopathy
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital contractural arachnodactyly
Congenital epulis
Congenital fibrosis of extraocular muscles type 1
Congenital insensitivity to pain with hyperhidrosis
Congenital insensitivity to pain with severe intellectual disability
Congenital insensitivity to pain-hypohidrosis syndrome
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital laryngeal palsy
Congenital myasthenic syndrome 15
Congenital myasthenic syndrome 18
Congenital myasthenic syndrome 6
Congenital myopathy 7A, myosin storage, autosomal dominant
Congenital myotonic dystrophy
Congenital neuronal ceroid lipofuscinosis 10
Congenital oculomotor nerve palsy
Congenital or early infantile CACH syndrome
Congenital retinal arteriovenous communication
Congenital stationary night blindness 1B
Congenital stationary night blindness 1D
Congenital stationary night blindness 1G
Congenital stationary night blindness autosomal dominant 1
Congenital stationary night blindness autosomal dominant 2
Congenital stationary night blindness autosomal dominant 3
Congenital toxoplasmosis
Congenital trigeminal anesthesia
Craniorachischisis
Developmental and epileptic encephalopathy, 15
Developmental and epileptic encephalopathy, 18
Developmental and epileptic encephalopathy, 23
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 50
Developmental and epileptic encephalopathy, 73
Developmental and epileptic encephalopathy, 77
Developmental malformations-deafness-dystonia syndrome
Distal arthrogryposis Moore weaver type
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Familial congenital palsy of trochlear nerve
Fibrosis of extraocular muscles, congenital, 2
Fibrosis of extraocular muscles, congenital, 3c
Fibrosis of extraocular muscles, congenital, 5
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Holoprosencephaly-hypokinesia-congenital contractures syndrome
Hyaline body myopathy
Infantile-onset X-linked spinal muscular atrophy
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Intellectual disability, Buenos-Aires type
Intellectual disability, Wolff type
Intellectual disability, X-linked, syndromic 33
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16
Intellectual disability, autosomal dominant 47
Intellectual disability, autosomal dominant 48
Intellectual disability, autosomal recessive 12
Intellectual disability, autosomal recessive 53
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
Isolated cerebellar hypoplasia/agenesis
Isolated exencephaly
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Leukodystrophy, hypomyelinating, 10
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocephaly-short stature-paraplegia syndrome
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple pterygium-malignant hyperthermia syndrome
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
Myasthenic syndrome, congenital, 22
Myasthenic syndrome, congenital, 23, presynaptic
Myasthenic syndrome, congenital, 24, presynaptic
Myasthenic syndrome, congenital, 25, presynaptic
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
Myofibrillar myopathy 1
Myofibrillar myopathy 2
Myofibrillar myopathy 3
Myofibrillar myopathy 4
Myofibrillar myopathy 5
Myopathy, myofibrillar, 13, with rimmed vacuoles
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Night blindness, congenital stationary, type1i
Progressive myoclonic epilepsy type 3
Radioulnar synostosis-developmental delay-hypotonia syndrome
Retinitis pigmentosa 59
Segmental spinal dysgenesis
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-progressive spastic diplegia syndrome
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Syndromic X-linked intellectual disability 34
Syndromic X-linked intellectual disability 5
Syndromic X-linked intellectual disability 7
Syndromic X-linked intellectual disability Abidi type
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Shashi type
Syndromic X-linked intellectual disability Siderius type

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