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Up to: Hereditary neurological disease · Neurodevelopmental disorder

Mendelian neurodevelopmental disorder

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

0 trials tagged with this condition →

Genetic developmental and epileptic encephalopathy 2 trials · 83 incl. sub-types Sub-types →
Prader-Willi syndrome 31 trials Sub-types →
Rett syndrome 31 trials
Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types Sub-types →
X-linked intellectual disability 1 trial · 15 incl. sub-types Sub-types →
CACNA1A-related complex neurodevelopmental disorder 1 trial · 9 incl. sub-types Sub-types →
Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types Sub-types →
Smith-Magenis syndrome 5 trials
Rubinstein-Taybi syndrome 3 trials Sub-types →
Alternating hemiplegia of childhood 3 trials Sub-types →
FOXG1 disorder 2 trials
GRIN-related complex neurodevelopmental disorder 2 trials Sub-types →
Neurodevelopmental disorder with involuntary movements 2 trials
CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy 1 trial
Microcephalic osteodysplastic primordial dwarfism type I 1 trial
Microcephalic osteodysplastic primordial dwarfism type II 1 trial
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1 trial
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 trial
Orofaciodigital syndrome I 1 trial
Dyneinopathy 0 trials · 1 incl. sub-types Sub-types →
Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types Sub-types →
AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss 0 trials
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 trials
ARF3-related neurodevelopmental disorder 0 trials
ATXN7L3-related developmental delay, hypotonia and facial dysmorphism 0 trials
Alzahrani-Kuwahara syndrome 0 trials
Amish lethal microcephaly 0 trials
Au-Kline syndrome 0 trials
Brunet-Wagner neurodevelopmental syndrome 0 trials
CBX1-related neurodevelopmental disorder 0 trials
CK syndrome 0 trials
CNOT9-related developmental disorder with seizures 0 trials
CTR9-related neurodevelopmental disorder 0 trials
Chilton-Okur-Chung neurodevelopmental syndrome 0 trials
DDX17-related neurodevelopmental disorder 0 trials
DEAF1-associated neurodevelopmental disorder 0 trials Sub-types →
DIP2C-related developmental disorder with speech delay 0 trials
Delpire-McNeill syndrome 0 trials
Dentici-Novelli neurodevelopmental syndrome 0 trials
Dursun-Ozgul neurodevelopmental syndrome 0 trials
Dworschak-Punetha neurodevelopmental syndrome 0 trials
EPB41L3-related developmental disorder with delayed myelination and seizures 0 trials
El Hayek-Chahrour neurodevelopmental disorder 0 trials
FAT4-related neurodevelopmental disorder 0 trials
FEZF2-related neurodevelopmental disorder 0 trials
Ferguson-Bonni neurodevelopmental syndrome 0 trials
GABRA4-related neurodevelopmental disorder with seizures 0 trials
GABRD-related neurodevelopmental disorder with epilepsy 0 trials
HDAC3-related neurodevelopmental disorder 0 trials
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome 0 trials
HNRNPC-related neurodevelopmental disorder 0 trials Sub-types →
Hao-Fountain syndrome due to USP7 mutation 0 trials
Harel-Tora neurodevelopmental syndrome 0 trials
Harel-Yoon syndrome 0 trials
Hiatt-Neu-Cooper neurodevelopmental syndrome 0 trials
Houge-Janssens syndrome 3 0 trials
Jeffries-Lakhani neurodevelopmental syndrome 0 trials
KCND2-related neurodevelopmental disorder with or without seizures 0 trials
KCNH1 associated disorder 0 trials Sub-types →
KCNK3-related developmental delay with sleep apnea 0 trials
KDM2B-related neurodevelopmental disorder 0 trials
Karayol-Borroto-Haghshenas neurodevelopmental syndrome 0 trials
Kariminejad neurodevelopmental syndrome 0 trials
Li-Takada-Miyake syndrome 0 trials
MYCBP2-related developmental delay with corpus callosum defects 0 trials
MYH10-related neurodevelopmental disorder with congenital anomalies 0 trials
Marbach-Schaaf neurodevelopmental syndrome 0 trials
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability 0 trials
Nil-Deshwar neurodevelopmental syndrome 0 trials
Okur-Chung neurodevelopmental syndrome 0 trials
PAX5-related B lymphopenia and autism spectrum disorder 0 trials
PIP5K1C-related neurodevelopmental disorder 0 trials
PPFIA3-related neurodevelopmental disorder 0 trials
PPP2R1A-related intellectual disability 0 trials
PRPF19-related neurodevelopmental disorder 0 trials
Pitt-Hopkins-like syndrome 2 0 trials
Poirier-Bienvenu neurodevelopmental syndrome 0 trials
Popov-Chang syndrome 0 trials
RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities 0 trials
RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities 0 trials
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity 0 trials
Ramond-Elliott neurodevelopmental syndrome 0 trials
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 0 trials Sub-types →
SOX11-related complex neurodevelopmental disorder with or without congenital anomalies 0 trials
SYNCRIP-related neurodevelopmental disorder 0 trials
Stankiewicz-Isidor syndrome 0 trials
TRA2B-related neurodevelopmental disorder 0 trials
WDR5-related neurodevelopmental disorder 0 trials
Wieacker-Wolff syndrome 0 trials
X-linked complex neurodevelopmental disorder 0 trials Sub-types →
Aplasia cutis-enamel dysplasia syndrome 0 trials
Autosomal dominant primary microcephaly 0 trials Sub-types →
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 trials
Cerebral palsy, spastic quadriplegic, 2 0 trials
Cerebral palsy, spastic quadriplegic, 3 0 trials
Complex cortical dysplasia with other brain malformations 5 0 trials
Developmental delay and seizures with or without movement abnormalities 0 trials
Developmental delay with autism spectrum disorder and gait instability 0 trials
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 trials
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 trials
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 trials
Intellectual developmental disorder with polymicrogyria and seizures 0 trials
Intellectual disability, autosomal dominant 29 0 trials
Microcephalic osteodysplastic primordial dwarfism, type 3 0 trials
Microcephaly and chorioretinopathy 0 trials Sub-types →
Microcephaly with lissencephaly and/or hydranencephaly 0 trials Sub-types →
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia 0 trials
Neurocardiorenal malformation syndrome 0 trials
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 trials
Neurodevelopmental disorder plus optic atrophy 0 trials
Neurodevelopmental disorder with absent language and variable seizures 0 trials
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities 0 trials
Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima 0 trials
Neurodevelopmental disorder with alopecia and brain abnormalities 0 trials
Neurodevelopmental disorder with ataxia and brain abnormalities 0 trials
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 0 trials
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 trials
Neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia 0 trials
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 trials
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities 0 trials
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 0 trials
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 0 trials
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 trials
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 trials
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 trials Sub-types →
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 trials
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity 0 trials
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 trials
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 0 trials
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 trials
Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities 0 trials
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0 trials
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 0 trials
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0 trials
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 trials
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 trials
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia 0 trials
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 0 trials
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 trials
Neurodevelopmental disorder with dysmorphic facies and variable seizures 0 trials
Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 0 trials
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures 0 trials
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 trials
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 trials
Neurodevelopmental disorder with dystonia and seizures 0 trials
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 0 trials
Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities 0 trials
Neurodevelopmental disorder with epilepsy and brain atrophy 0 trials
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 trials
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 trials
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 trials
Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 trials
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 0 trials
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked 0 trials
Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech 0 trials
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 0 trials
Neurodevelopmental disorder with hearing loss and spasticity 0 trials
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0 trials
Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities 0 trials
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 0 trials
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 trials
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0 trials
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities 0 trials
Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 trials
Neurodevelopmental disorder with hypotonia and gross motor and speech delay 0 trials
Neurodevelopmental disorder with hypotonia and seizures 0 trials
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures 0 trials
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 trials
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 0 trials
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 trials
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 0 trials
Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech 0 trials
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 0 trials
Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities 0 trials
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 trials
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 trials
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures 0 trials
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 trials
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 trials
Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 0 trials
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 trials
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 trials
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 trials
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies 0 trials
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 trials
Neurodevelopmental disorder with infantile epileptic spasms 0 trials
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 0 trials
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 0 trials
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 trials
Neurodevelopmental disorder with language delay and seizures 0 trials
Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 trials
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 trials
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 0 trials
Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 trials
Neurodevelopmental disorder with microcephaly and movement abnormalities 0 trials
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 0 trials
Neurodevelopmental disorder with microcephaly and structural brain anomalies 0 trials
Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 0 trials
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 trials
Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 trials
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 trials
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 0 trials
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 0 trials
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 trials
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0 trials
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 trials
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 0 trials
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 trials
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 trials
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures 0 trials
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 0 trials
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 trials
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis 0 trials
Neurodevelopmental disorder with microcephaly, short stature, and speech delay 0 trials
Neurodevelopmental disorder with midbrain and hindbrain malformations 0 trials
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 0 trials
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 trials
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities 0 trials
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction 0 trials
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 trials
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0 trials
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 trials
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 trials
Neurodevelopmental disorder with or without autism or seizures 0 trials
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0 trials
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 trials
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 trials
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 trials
Neurodevelopmental disorder with poor growth and behavioral abnormalities 0 trials
Neurodevelopmental disorder with poor growth and skeletal anomalies 0 trials
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies 0 trials
Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities 0 trials
Neurodevelopmental disorder with poor language and loss of hand skills 0 trials
Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities 0 trials
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
Neurodevelopmental disorder with progressive movement abnormalities 0 trials
Neurodevelopmental disorder with progressive spasticity and brain abnormalities 0 trials
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 trials
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 trials
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 0 trials
Neurodevelopmental disorder with seizures and brain atrophy 0 trials
Neurodevelopmental disorder with seizures and gingival overgrowth 0 trials
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 trials
Neurodevelopmental disorder with seizures and speech and walking impairment 0 trials
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0 trials
Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity 0 trials
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 0 trials
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 0 trials
Neurodevelopmental disorder with severe motor impairment and absent language 0 trials
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 0 trials
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 0 trials
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0 trials
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 0 trials
Neurodevelopmental disorder with spasticity and poor growth 0 trials
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0 trials
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities 0 trials
Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter 0 trials
Neurodevelopmental disorder with speech delay and behavioral abnormalities 0 trials
Neurodevelopmental disorder with speech delay and variable ocular anomalies 0 trials
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures 0 trials
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 trials
Neurodevelopmental disorder with speech impairment and with or without seizures 0 trials
Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination 0 trials
Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities 0 trials
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 trials
Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language 0 trials
Neurodevelopmental disorder with variable familial hypercholanemia 0 trials
Neurodevelopmental disorder with visual defects and brain anomalies 0 trials
Neurodevelopmental disorder with white matter abnormalities and gait disturbance 0 trials
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 trials
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 trials
Otofacial neurodevelopmental syndrome 0 trials
Parenti-mignot neurodevelopmental syndrome 0 trials
Squalene synthase deficiency 0 trials