Agent Commons Collaborative Research

Mendelian neurodevelopmental disorder

A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.

Identifiers
MONDO:0100500
Part of
Hereditary neurological diseaseNeurodevelopmental disorder

Subtypes

All diseases Rare only
Disease Subtypes
X-linked intellectual disability 145
Genetic developmental and epileptic encephalopathy 132
Intellectual disability, autosomal dominant 96
Intellectual disability, autosomal recessive 79
Autosomal recessive primary microcephaly 32
GRIN-related complex neurodevelopmental disorder 14
Mediator complex-related neurodevelopmental disorder 7
Prader-Willi syndrome 7
CACNA1A-related complex neurodevelopmental disorder 4
Rubinstein-Taybi syndrome 4
Alternating hemiplegia of childhood 4
Autosomal dominant primary microcephaly 3
Microcephaly and chorioretinopathy 3
CAMK2A-related neurodevelopmental disorder 2
DEAF1-associated neurodevelopmental disorder 2
KCNH1 associated disorder 2
X-linked complex neurodevelopmental disorder 2
Dyneinopathy 2
Microcephaly with lissencephaly and/or hydranencephaly 2
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 1
AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Alzahrani-Kuwahara syndrome
Amish lethal microcephaly
Au-Kline syndrome
BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy
CBX1-related neurodevelopmental disorder
CK syndrome
DDX17-related neurodevelopmental disorder
Delpire-McNeill syndrome
FOXG1 disorder
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
Hao-Fountain syndrome due to USP7 mutation
Harel-Yoon syndrome
Houge-Janssens syndrome 3
MYH10-related neurodevelopmental disorder with congenital anomalies
Marbach-Schaaf neurodevelopmental syndrome
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
Okur-Chung neurodevelopmental syndrome
PAX5-related B lymphopenia and autism spectrum disorder
PPP2R1A-related intellectual disability
Pitt-Hopkins-like syndrome 2
Poirier-Bienvenu neurodevelopmental syndrome
Rett syndrome
SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
Smith-Magenis syndrome
Stankiewicz-Isidor syndrome
Wieacker-Wolff syndrome
Aplasia cutis-enamel dysplasia syndrome
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Cerebellar atrophy, visual impairment, and psychomotor retardation;
Cerebral palsy, spastic quadriplegic, 2
Cerebral palsy, spastic quadriplegic, 3
Complex cortical dysplasia with other brain malformations 5
Developmental delay and seizures with or without movement abnormalities
Developmental delay with autism spectrum disorder and gait instability
Developmental delay with variable intellectual impairment and behavioral abnormalities
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
Microcephalic osteodysplastic primordial dwarfism type I
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism, type 3
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Neurodevelopmental disorder with alopecia and brain abnormalities
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Neurodevelopmental disorder with dysmorphic facies and variable seizures
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Neurodevelopmental disorder with hearing loss and spasticity
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
Neurodevelopmental disorder with involuntary movements
Neurodevelopmental disorder with language impairment and behavioral abnormalities
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
Neurodevelopmental disorder with microcephaly and dysmorphic facies
Neurodevelopmental disorder with microcephaly and structural brain anomalies
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Neurodevelopmental disorder with or without autism or seizures
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Neurodevelopmental disorder with or without early-onset generalized epilepsy
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Neurodevelopmental disorder with seizures and brain atrophy
Neurodevelopmental disorder with seizures and speech and walking impairment
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Neurodevelopmental disorder with severe motor impairment and absent language
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Neurodevelopmental disorder with speech impairment and dysmorphic facies
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Orofaciodigital syndrome I
Squalene synthase deficiency

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