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Up to: Nervous system disorder

Congenital nervous system disorder

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

1 trial tagged with this condition →

Spina bifida 44 trials · 59 incl. sub-types Sub-types →
Combined pituitary hormone deficiencies, genetic form 1 trial · 42 incl. sub-types Sub-types →
Prader-Willi syndrome 31 trials Sub-types →
22q11.2 deletion syndrome 7 trials · 13 incl. sub-types Sub-types →
Leber congenital amaurosis 10 trials · 12 incl. sub-types Sub-types →
Chediak-Higashi syndrome 9 trials
Congenital laryngeal palsy 9 trials
Congenital myotonic dystrophy 9 trials
Congenital muscular dystrophy 1 trial · 9 incl. sub-types Sub-types →
Congenital vitreoretinal dysplasia 0 trials · 9 incl. sub-types Sub-types →
Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types Sub-types →
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 0 trials · 8 incl. sub-types Sub-types →
RYR1-related myopathy 5 trials · 6 incl. sub-types Sub-types →
MERRF syndrome 5 trials
Smith-Magenis syndrome 5 trials
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
Congenital nystagmus 4 trials · 5 incl. sub-types Sub-types →
Corpus callosum, agenesis of 4 trials Sub-types →
Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
TTN-related myopathy 2 trials · 4 incl. sub-types Sub-types →
Rubinstein-Taybi syndrome 3 trials Sub-types →
Cerebral cavernous malformation 3 trials Sub-types →
Congenital stationary night blindness autosomal dominant 1 3 trials
Familial congenital mirror movements 3 trials Sub-types →
Syndromic X-linked intellectual disability Lubs type 3 trials Sub-types →
TPM2-related myopathy 1 trial · 3 incl. sub-types Sub-types →
Congenital hydrocephalus 1 trial · 3 incl. sub-types Sub-types →
FOXG1 disorder 2 trials
KBG syndrome 2 trials
Mobius syndrome 2 trials Sub-types →
Mowat-Wilson syndrome 2 trials Sub-types →
PHACE syndrome 2 trials
Congenital toxoplasmosis 2 trials
Isolated hereditary congenital facial paralysis 2 trials Sub-types →
Meningocele 2 trials Sub-types →
Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
Postsynaptic congenital myasthenic syndrome 0 trials · 2 incl. sub-types Sub-types →
AICA-ribosiduria 1 trial
Bohring-Opitz syndrome 1 trial
Cohen syndrome 1 trial
Freeman-Sheldon syndrome 1 trial Sub-types →
Schuurs-Hoeijmakers syndrome 1 trial
TPM3-related myopathy 1 trial Sub-types →
Anencephaly 1 trial Sub-types →
Autism spectrum disorder due to AUTS2 deficiency 1 trial
Autosomal recessive limb-girdle muscular dystrophy type 2R1 1 trial
Autosomal recessive limb-girdle muscular dystrophy type 2Y 1 trial
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
Chromosome 15q13.3 microdeletion syndrome 1 trial
Congenital contractural arachnodactyly 1 trial
Congenital stationary night blindness autosomal dominant 2 1 trial
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
Isolated cerebellar hypoplasia/agenesis 1 trial
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
Polymicrogyria 1 trial Sub-types →
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
Syndromic X-linked intellectual disability 5 1 trial
Cephalocele 0 trials · 1 incl. sub-types Sub-types →
Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types Sub-types →
Neuropathy, congenital hypomelinating 0 trials · 1 incl. sub-types Sub-types →
Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types Sub-types →
3q27.3 microdeletion syndrome 0 trials
7p22.1 microduplication syndrome 0 trials
9q31.1q31.3 microdeletion syndrome 0 trials
9q33.3q34.11 microdeletion syndrome 0 trials
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 trials
Aase-Smith syndrome 0 trials
Al Gazali Khidr Prem Chandran syndrome 0 trials
B4GALT1-congenital disorder of glycosylation 0 trials
Bailey-Bloch congenital myopathy 0 trials
Bardet-Biedl syndrome 11 0 trials
CTCF-related neurodevelopmental disorder 0 trials
DYRK1A-related intellectual disability syndrome 0 trials Sub-types →
EEM syndrome 0 trials
Houge-Janssens syndrome 1 0 trials
Johanson-Blizzard syndrome 0 trials
MYH7-related skeletal myopathy 0 trials
Myhre syndrome 0 trials
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
Pierpont syndrome 0 trials
Pitt-Hopkins-like syndrome 2 0 trials
Prader-Willi-like syndrome 0 trials Sub-types →
Ritscher-Schinzel syndrome 0 trials Sub-types →
SIN3A-related intellectual disability syndrome 0 trials Sub-types →
SLC39A8-CDG 0 trials
Schinzel-Giedion syndrome 0 trials
TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
Wieacker-Wolff syndrome 0 trials
X-linked adrenal hypoplasia congenita 0 trials Sub-types →
X-linked congenital stationary night blindness 0 trials Sub-types →
X-linked intellectual disability with marfanoid habitus 0 trials
X-linked intellectual disability, Cabezas type 0 trials
X-linked intellectual disability, Pai type 0 trials
X-linked intellectual disability, Stevenson type 0 trials
X-linked intellectual disability, Stoll type 0 trials
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 0 trials
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 0 trials
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 0 trials
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 0 trials
X-linked intellectual disability-plagiocephaly syndrome 0 trials
X-linked intellectual disability-short stature-overweight syndrome 0 trials
X-linked recessive mitochondrial myopathy 0 trials
Adult-onset nemaline myopathy 0 trials
Alpha-actinopathy 0 trials Sub-types →
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
Autosomal dominant primary microcephaly 0 trials Sub-types →
Autosomal recessive spinocerebellar ataxia 20 0 trials
Blepharophimosis - intellectual disability syndrome, MKB type 0 trials
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
Cerebellar-facial-dental syndrome 0 trials
Cone-rod synaptic disorder, congenital nonprogressive 0 trials
Congenital abducens nerve palsy 0 trials
Congenital achiasma 0 trials
Congenital axonal neuropathy with encephalopathy 0 trials
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
Congenital epulis 0 trials
Congenital fibrosis of extraocular muscles type 1 0 trials
Congenital insensitivity to pain with hyperhidrosis 0 trials
Congenital insensitivity to pain with severe intellectual disability 0 trials
Congenital insensitivity to pain-hypohidrosis syndrome 0 trials
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 trials
Congenital myasthenic syndrome 15 0 trials
Congenital myasthenic syndrome 18 0 trials
Congenital myasthenic syndrome 6 0 trials
Congenital myasthenic syndrome with tubular aggregates 0 trials Sub-types →
Congenital myopathy 7A, myosin storage, autosomal dominant 0 trials
Congenital neuronal ceroid lipofuscinosis 10 0 trials
Congenital oculomotor nerve palsy 0 trials
Congenital or early infantile CACH syndrome 0 trials
Congenital retinal arteriovenous communication 0 trials
Congenital stationary night blindness 1B 0 trials
Congenital stationary night blindness 1D 0 trials
Congenital stationary night blindness 1G 0 trials
Congenital stationary night blindness autosomal dominant 3 0 trials
Congenital trigeminal anesthesia 0 trials
Craniorachischisis 0 trials
Developmental and epileptic encephalopathy, 15 0 trials
Developmental and epileptic encephalopathy, 18 0 trials
Developmental and epileptic encephalopathy, 23 0 trials
Developmental and epileptic encephalopathy, 36 0 trials
Developmental and epileptic encephalopathy, 50 0 trials
Developmental and epileptic encephalopathy, 73 0 trials
Developmental and epileptic encephalopathy, 77 0 trials
Developmental malformations-deafness-dystonia syndrome 0 trials
Diastematomyelia 0 trials
Distal arthrogryposis Moore weaver type 0 trials
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
Familial congenital palsy of trochlear nerve 0 trials
Fibrosis of extraocular muscles, congenital, 2 0 trials
Fibrosis of extraocular muscles, congenital, 3c 0 trials
Fibrosis of extraocular muscles, congenital, 5 0 trials
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
Holoprosencephaly 0 trials Sub-types →
Holoprosencephaly-hypokinesia-congenital contractures syndrome 0 trials
Hyaline body myopathy 0 trials
Hypomyelinating leukodystrophy 10 0 trials
Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials Sub-types →
Infantile-onset X-linked spinal muscular atrophy 0 trials
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 trials
Intellectual disability, Buenos-Aires type 0 trials
Intellectual disability, Wolff type 0 trials
Intellectual disability, X-linked, syndromic 33 0 trials
Intellectual disability, autosomal dominant 47 0 trials
Intellectual disability, autosomal dominant 48 0 trials
Intellectual disability, autosomal recessive 12 0 trials
Intellectual disability, autosomal recessive 53 0 trials
Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
Intermediate nemaline myopathy 0 trials Sub-types →
Isolated exencephaly 0 trials
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
Lissencephaly spectrum disorders 0 trials Sub-types →
Macrocephaly-short stature-paraplegia syndrome 0 trials
Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 trials
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 0 trials
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
Multiple pterygium-malignant hyperthermia syndrome 0 trials
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
Myasthenic syndrome, congenital, 22 0 trials
Myasthenic syndrome, congenital, 23, presynaptic 0 trials
Myasthenic syndrome, congenital, 24, presynaptic 0 trials
Myasthenic syndrome, congenital, 25, presynaptic 0 trials
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials
Myofibrillar myopathy 1 0 trials
Myofibrillar myopathy 3 0 trials
Myofibrillar myopathy 4 0 trials
Myofibrillar myopathy 5 0 trials
Myofibrillar myopathy 7 0 trials Sub-types →
Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 0 trials Sub-types →
Night blindness, congenital stationary, type1i 0 trials
Periventricular nodular heterotopia 0 trials Sub-types →
Prenatal-onset spinal muscular atrophy with congenital bone fractures 0 trials Sub-types →
Progressive myoclonic epilepsy type 3 0 trials
Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
Schizencephaly 0 trials Sub-types →
Segmental spinal dysgenesis 0 trials
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 trials
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 0 trials
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis 0 trials
Subcortical band heterotopia 0 trials Sub-types →
Syndromic X-linked intellectual disability 34 0 trials
Syndromic X-linked intellectual disability 7 0 trials
Syndromic X-linked intellectual disability Abidi type 0 trials
Syndromic X-linked intellectual disability Claes-Jensen type 0 trials
Syndromic X-linked intellectual disability Shashi type 0 trials
Syndromic X-linked intellectual disability Siderius type 0 trials
Typical nemaline myopathy 0 trials Sub-types →