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 157
Genetic developmental and epileptic encephalopathy 132
Intellectual disability, autosomal dominant 108
Intellectual disability, autosomal recessive 81
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
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 2
X-linked complex neurodevelopmental disorder 2
Dyneinopathy 2
Microcephaly with lissencephaly and/or hydranencephaly 2
HNRNPC-related neurodevelopmental disorder 1
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 1
AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
ARF3-related neurodevelopmental disorder
ATXN7L3-related developmental delay, hypotonia and facial dysmorphism
Alzahrani-Kuwahara syndrome
Amish lethal microcephaly
Au-Kline syndrome
BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy
Brunet-Wagner neurodevelopmental syndrome
CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
CBX1-related neurodevelopmental disorder
CK syndrome
CNOT9-related developmental disorder with seizures
CTR9-related neurodevelopmental disorder
Chilton-Okur-Chung neurodevelopmental syndrome
DDX17-related neurodevelopmental disorder
DIP2C-related developmental disorder with speech delay
Delpire-McNeill syndrome
Dentici-Novelli neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome
Dworschak-Punetha neurodevelopmental syndrome
EPB41L3-related developmental disorder with delayed myelination and seizures
Ebstein-Bezieau neurodevelopmental syndrome
El Hayek-Chahrour neurodevelopmental disorder
FAT4-related neurodevelopmental disorder
FEZF2-related neurodevelopmental disorder
FOXG1 disorder
Ferguson-Bonni neurodevelopmental syndrome
GABRA4-related neurodevelopmental disorder with seizures
GABRD-related neurodevelopmental disorder with epilepsy
HDAC3-related neurodevelopmental disorder
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
Hao-Fountain syndrome due to USP7 mutation
Harel-Tora neurodevelopmental syndrome
Harel-Yoon syndrome
Hiatt-Neu-Cooper neurodevelopmental syndrome
Houge-Janssens syndrome 3
Jeffries-Lakhani neurodevelopmental syndrome
KCND2-related neurodevelopmental disorder with or without seizures
KCNK3-related developmental delay with sleep apnea
KDM2B-related neurodevelopmental disorder
Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Kariminejad neurodevelopmental syndrome
Li-Takada-Miyake syndrome
Luo-Agrawal neurodevelopmental syndrome
MYCBP2-related developmental delay with corpus callosum defects
MYH10-related neurodevelopmental disorder with congenital anomalies
Marbach-Schaaf neurodevelopmental syndrome
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
Nil-Deshwar neurodevelopmental syndrome
Okur-Chung neurodevelopmental syndrome
PAX5-related B lymphopenia and autism spectrum disorder
PIP5K1C-related neurodevelopmental disorder
PPFIA3-related neurodevelopmental disorder
PPP2R1A-related intellectual disability
PRPF19-related neurodevelopmental disorder
Pitt-Hopkins-like syndrome 2
Poirier-Bienvenu neurodevelopmental syndrome
Popov-Chang syndrome
RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities
RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
Ramond-Elliott neurodevelopmental syndrome
Rett syndrome
SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
SYNCRIP-related neurodevelopmental disorder
Smith-Magenis syndrome
Stankiewicz-Isidor syndrome
TCF7L2-related neurodevelopmental disorder
TRA2B-related neurodevelopmental disorder
TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy
WDR5-related neurodevelopmental disorder
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
Intellectual developmental disorder with polymicrogyria and seizures
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
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
Neurocardiorenal malformation syndrome
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Neurodevelopmental disorder plus optic atrophy
Neurodevelopmental disorder with absent language and variable seizures
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
Neurodevelopmental disorder with alopecia and brain abnormalities
Neurodevelopmental disorder with ataxia and brain abnormalities
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental disorder with central and peripheral motor dysfunction
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
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 ischiopubic hypoplasia
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Neurodevelopmental disorder with dysmorphic facies and variable seizures
Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Neurodevelopmental disorder with dystonia and seizures
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
Neurodevelopmental disorder with epilepsy and brain atrophy
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Neurodevelopmental disorder with eye movement abnormalities and ataxia
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Neurodevelopmental disorder with hearing loss and spasticity
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Neurodevelopmental disorder with hypotonia and brain abnormalities
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Neurodevelopmental disorder with hypotonia and dysmorphic facies
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Neurodevelopmental disorder with hypotonia and seizures
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
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, dysmorphic facies, and skin abnormalities
Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
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, microcephaly, and seizures
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
Neurodevelopmental disorder with infantile epileptic spasms
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Neurodevelopmental disorder with involuntary movements
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
Neurodevelopmental disorder with language delay and seizures
Neurodevelopmental disorder with language delay and variable cognitive abnormalities
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 movement abnormalities
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
Neurodevelopmental disorder with microcephaly and structural brain anomalies
Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
Neurodevelopmental disorder with midbrain and hindbrain malformations
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
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 seizures and gait abnormalities
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
Neurodevelopmental disorder with parkinsonism or other movement abnormalities
Neurodevelopmental disorder with poor growth and behavioral abnormalities
Neurodevelopmental disorder with poor growth and skeletal anomalies
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
Neurodevelopmental disorder with poor language and loss of hand skills
Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Neurodevelopmental disorder with progressive movement abnormalities
Neurodevelopmental disorder with progressive spasticity and brain abnormalities
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 gingival overgrowth
Neurodevelopmental disorder with seizures and impaired intellectual and language development
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Neurodevelopmental disorder with seizures and speech and walking impairment
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
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 short stature, prominent forehead, and feeding difficulties
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
Neurodevelopmental disorder with spasticity and poor growth
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter
Neurodevelopmental disorder with speech delay and behavioral abnormalities
Neurodevelopmental disorder with speech delay and variable ocular anomalies
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
Neurodevelopmental disorder with speech impairment and dysmorphic facies
Neurodevelopmental disorder with speech impairment and with or without seizures
Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
Neurodevelopmental disorder with variable familial hypercholanemia
Neurodevelopmental disorder with visual defects and brain anomalies
Neurodevelopmental disorder with white matter abnormalities and gait disturbance
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
Orofaciodigital syndrome I
Otofacial neurodevelopmental syndrome
Parenti-mignot neurodevelopmental syndrome
Squalene synthase deficiency

Rare disease

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