Mendelian neurodevelopmental disorder

MONDO:0100500

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

208 clinical trials for this condition and its sub-types, 0 tagged with Mendelian neurodevelopmental disorder itself.

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↑ Hereditary neurological disease (5791) ↑ Neurodevelopmental disorder (1133)

Sub-types of Mendelian neurodevelopmental disorder

Genetic developmental and epileptic encephalopathy 2 trials · 83 incl. sub-types
105 sub-types
- Dravet syndrome 39 trials
- Lennox-Gastaut syndrome 26 trials · 27 incl. sub-types Sub-types →
- Developmental and epileptic encephalopathy, 2 10 trials
- Developmental and epileptic encephalopathy, 4 6 trials
- Neonatal-onset developmental and epileptic encephalopathy 0 trials · 5 incl. sub-types Sub-types →
- Developmental and epileptic encephalopathy, 11 4 trials
- Developmental and epileptic encephalopathy, 14 3 trials
- Developmental and epileptic encephalopathy, 1 2 trials
- Developmental and epileptic encephalopathy, 17 2 trials
- Developmental and epileptic encephalopathy 114 1 trial
- Developmental and epileptic encephalopathy, 35 1 trial
- Developmental and epileptic encephalopathy, 7 1 trial
- Non-neonatal early infantile epileptic encephalopathy 1 trial
- DNM1-encephalopathy and neurodevelopmental disorder 0 trials Sub-types →
- TMEM63B-related developmental and epileptic encephalopathy with anemia 0 trials
- Developmental and epileptic encephalopathy 100 0 trials
- Developmental and epileptic encephalopathy 101 0 trials
- Developmental and epileptic encephalopathy 102 0 trials
- Developmental and epileptic encephalopathy 103 0 trials
- Developmental and epileptic encephalopathy 104 0 trials
- Developmental and epileptic encephalopathy 105 with hypopituitarism 0 trials
- Developmental and epileptic encephalopathy 106 0 trials
- Developmental and epileptic encephalopathy 107 0 trials
- Developmental and epileptic encephalopathy 108 0 trials
- Developmental and epileptic encephalopathy 109 0 trials
- Developmental and epileptic encephalopathy 110 0 trials
- Developmental and epileptic encephalopathy 111 0 trials
- Developmental and epileptic encephalopathy 112 0 trials
- Developmental and epileptic encephalopathy 113 0 trials
- Developmental and epileptic encephalopathy 115 0 trials
- Developmental and epileptic encephalopathy 116 0 trials
- Developmental and epileptic encephalopathy 118 0 trials
- Developmental and epileptic encephalopathy 119 0 trials
- Developmental and epileptic encephalopathy 120 0 trials
- Developmental and epileptic encephalopathy 121 0 trials
- Developmental and epileptic encephalopathy 6B 0 trials
- Developmental and epileptic encephalopathy 89 0 trials
- Developmental and epileptic encephalopathy 91 0 trials
- Developmental and epileptic encephalopathy 92 0 trials
- Developmental and epileptic encephalopathy 93 0 trials
- Developmental and epileptic encephalopathy 96 0 trials
- Developmental and epileptic encephalopathy 97 0 trials
- Developmental and epileptic encephalopathy 98 0 trials
- Developmental and epileptic encephalopathy 99 0 trials
- Developmental and epileptic encephalopathy, 15 0 trials
- Developmental and epileptic encephalopathy, 18 0 trials
- Developmental and epileptic encephalopathy, 19 0 trials
- Developmental and epileptic encephalopathy, 23 0 trials
- Developmental and epileptic encephalopathy, 27 0 trials
- Developmental and epileptic encephalopathy, 3 0 trials
- Developmental and epileptic encephalopathy, 30 0 trials
- Developmental and epileptic encephalopathy, 36 0 trials
- Developmental and epileptic encephalopathy, 37 0 trials
- Developmental and epileptic encephalopathy, 38 0 trials
- Developmental and epileptic encephalopathy, 40 0 trials
- Developmental and epileptic encephalopathy, 48 0 trials
- Developmental and epileptic encephalopathy, 49 0 trials
- Developmental and epileptic encephalopathy, 5 0 trials
- Developmental and epileptic encephalopathy, 50 0 trials
- Developmental and epileptic encephalopathy, 51 0 trials
- Developmental and epileptic encephalopathy, 52 0 trials
- Developmental and epileptic encephalopathy, 53 0 trials
- Developmental and epileptic encephalopathy, 54 0 trials
- Developmental and epileptic encephalopathy, 55 0 trials
- Developmental and epileptic encephalopathy, 56 0 trials
- Developmental and epileptic encephalopathy, 57 0 trials
- Developmental and epileptic encephalopathy, 58 0 trials
- Developmental and epileptic encephalopathy, 59 0 trials
- Developmental and epileptic encephalopathy, 60 0 trials
- Developmental and epileptic encephalopathy, 61 0 trials
- Developmental and epileptic encephalopathy, 62 0 trials
- Developmental and epileptic encephalopathy, 63 0 trials
- Developmental and epileptic encephalopathy, 64 0 trials
- Developmental and epileptic encephalopathy, 65 0 trials
- Developmental and epileptic encephalopathy, 66 0 trials
- Developmental and epileptic encephalopathy, 67 0 trials
- Developmental and epileptic encephalopathy, 68 0 trials
- Developmental and epileptic encephalopathy, 69 0 trials
- Developmental and epileptic encephalopathy, 6A 0 trials
- Developmental and epileptic encephalopathy, 70 0 trials
- Developmental and epileptic encephalopathy, 71 0 trials
- Developmental and epileptic encephalopathy, 72 0 trials
- Developmental and epileptic encephalopathy, 73 0 trials
- Developmental and epileptic encephalopathy, 74 0 trials
- Developmental and epileptic encephalopathy, 75 0 trials
- Developmental and epileptic encephalopathy, 76 0 trials
- Developmental and epileptic encephalopathy, 77 0 trials
- Developmental and epileptic encephalopathy, 78 0 trials
- Developmental and epileptic encephalopathy, 79 0 trials
- Developmental and epileptic encephalopathy, 8 0 trials
- Developmental and epileptic encephalopathy, 80 0 trials
- Developmental and epileptic encephalopathy, 81 0 trials
- Developmental and epileptic encephalopathy, 82 0 trials
- Developmental and epileptic encephalopathy, 83 0 trials
- Developmental and epileptic encephalopathy, 84 0 trials
- Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 trials
- Developmental and epileptic encephalopathy, 86 0 trials
- Developmental and epileptic encephalopathy, 87 0 trials
- Developmental and epileptic encephalopathy, 88 0 trials
- Developmental and epileptic encephalopathy, 9 0 trials
- Developmental and epileptic encephalopathy, 90 0 trials
- Hemiplegic migraine-developmental and epileptic encephalopathy spectrum 0 trials
- Microcephaly, seizures, and developmental delay 0 trials
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
- Neonatal-onset encephalopathy with rigidity and seizures 0 trials
Prader-Willi syndrome 32 trials
5 sub-types
- Prader-Willi syndrome due to imprinting mutation 0 trials
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
- Prader-Willi syndrome due to paternal 15q11q13 deletion 0 trials Sub-types →
- Prader-Willi syndrome due to translocation 0 trials
- Schaaf-Yang syndrome 0 trials
Rett syndrome 31 trials
Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types
29 sub-types
- Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types Sub-types →
- Autosomal dominant non-syndromic intellectual disability 0 trials · 8 incl. sub-types Sub-types →
- Intellectual disability, autosomal dominant 5 2 trials
- Intellectual developmental disorder, autosomal dominant 64 0 trials
- Intellectual developmental disorder, autosomal dominant 65 0 trials
- Intellectual developmental disorder, autosomal dominant 66 0 trials
- Intellectual developmental disorder, autosomal dominant 67 0 trials
- Intellectual developmental disorder, autosomal dominant 68 0 trials
- Intellectual developmental disorder, autosomal dominant 69 0 trials
- Intellectual developmental disorder, autosomal dominant 70 0 trials
- Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 trials
- Intellectual developmental disorder, autosomal dominant 72 0 trials
- Intellectual developmental disorder, autosomal dominant 74 0 trials
- Intellectual developmental disorder, autosomal dominant 75 0 trials
- Intellectual developmental disorder, autosomal dominant 76 0 trials
- Intellectual disability, autosomal dominant 1 0 trials
- Intellectual disability, autosomal dominant 10 0 trials
- Intellectual disability, autosomal dominant 11 0 trials
- Intellectual disability, autosomal dominant 2 0 trials
- Intellectual disability, autosomal dominant 24 0 trials
- Intellectual disability, autosomal dominant 3 0 trials
- Intellectual disability, autosomal dominant 38 0 trials
- Intellectual disability, autosomal dominant 39 0 trials
- Intellectual disability, autosomal dominant 4 0 trials
- Intellectual disability, autosomal dominant 40 0 trials
- Intellectual disability, autosomal dominant 42 0 trials
- Intellectual disability, autosomal dominant 6 0 trials
- Intellectual disability, autosomal dominant 9 0 trials
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 trials
X-linked intellectual disability 1 trial · 15 incl. sub-types
2 sub-types
- X-linked syndromic intellectual disability 0 trials · 12 incl. sub-types Sub-types →
- Non-syndromic X-linked intellectual disability 0 trials · 3 incl. sub-types Sub-types →
CACNA1A-related complex neurodevelopmental disorder 1 trial · 9 incl. sub-types
4 sub-types
- Spinocerebellar ataxia type 6 9 trials
- Developmental and epileptic encephalopathy, 42 1 trial
- Episodic ataxia type 2 1 trial
- Migraine, familial hemiplegic, 1 1 trial
Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types
29 sub-types
- Microcephaly with or without short stature 0 trials · 8 incl. sub-types Sub-types →
- Microcephalic primordial dwarfism due to ZNF335 deficiency 0 trials
- Microcephaly 1, primary, autosomal recessive 0 trials
- Microcephaly 11, primary, autosomal recessive 0 trials
- Microcephaly 12, primary, autosomal recessive 0 trials
- Microcephaly 13, primary, autosomal recessive 0 trials
- Microcephaly 14, primary, autosomal recessive 0 trials
- Microcephaly 15, primary, autosomal recessive 0 trials
- Microcephaly 16, primary, autosomal recessive 0 trials
- Microcephaly 17, primary, autosomal recessive 0 trials
- Microcephaly 19, primary, autosomal recessive 0 trials
- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 trials
- Microcephaly 20, primary, autosomal recessive 0 trials
- Microcephaly 21, primary, autosomal recessive 0 trials
- Microcephaly 22, primary, autosomal recessive 0 trials
- Microcephaly 23, primary, autosomal recessive 0 trials
- Microcephaly 24, primary, autosomal recessive 0 trials
- Microcephaly 25, primary, autosomal recessive 0 trials
- Microcephaly 28, primary, autosomal recessive 0 trials
- Microcephaly 29, primary, autosomal recessive 0 trials
- Microcephaly 3, primary, autosomal recessive 0 trials
- Microcephaly 30, primary, autosomal recessive 0 trials
- Microcephaly 31, primary, autosomal recessive 0 trials
- Microcephaly 4, primary, autosomal recessive 0 trials
- Microcephaly 5, primary, autosomal recessive 0 trials
- Microcephaly 7, primary, autosomal recessive 0 trials
- Microcephaly 8, primary, autosomal recessive 0 trials
- Microcephaly 9, primary, autosomal recessive 0 trials
- Microcephaly with simplified gyral pattern 0 trials
Smith-Magenis syndrome 5 trials
Rubinstein-Taybi syndrome 3 trials
3 sub-types
- Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
- Chromosome 16p13.3 deletion syndrome 0 trials Sub-types →
Alternating hemiplegia of childhood 3 trials
3 sub-types
- X-linked adrenal hypoplasia congenita 0 trials Sub-types →
- Alternating hemiplegia of childhood 1 0 trials
- Alternating hemiplegia of childhood 2 0 trials
FOXG1 disorder 2 trials
GRIN-related complex neurodevelopmental disorder 2 trials
4 sub-types
- GRIN1-related complex neurodevelopmental disorder 0 trials Sub-types →
- GRIN2A-related complex neurodevelopmental disorder 0 trials Sub-types →
- GRIN2B-related complex neurodevelopmental disorder 0 trials Sub-types →
- Developmental and epileptic encephalopathy, 46 0 trials
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
2 sub-types
- Charcot-Marie-Tooth disease axonal type 2O 1 trial
- Intellectual disability, autosomal dominant 13 0 trials
Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types
3 sub-types
- Autosomal recessive syndromic intellectual disability 0 trials · 1 incl. sub-types Sub-types →
- Autosomal recessive non-syndromic intellectual disability 0 trials Sub-types →
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 trials
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
2 sub-types
- Intellectual disability, autosomal dominant 24 0 trials
- Intellectual disability-epilepsy-extrapyramidal syndrome 0 trials
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
1 sub-type
- Intellectual developmental disorder, autosomal dominant 74 0 trials
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
2 sub-types
- Temple-Baraitser syndrome 0 trials
- Zimmermann-Laband syndrome 1 0 trials
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
2 sub-types
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome 0 trials
- Intellectual developmental disorder, autosomal dominant 70 0 trials
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
2 sub-types
- Developmental and epileptic encephalopathy, 8 0 trials
- Developmental and epileptic encephalopathy, 9 0 trials
Aplasia cutis-enamel dysplasia syndrome 0 trials
Autosomal dominant primary microcephaly 0 trials
3 sub-types
- Microcephaly 18, primary, autosomal dominant 0 trials
- Microcephaly 26, primary, autosomal dominant 0 trials
- Microcephaly 27, primary, autosomal dominant 0 trials
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
3 sub-types
- Microcephaly and chorioretinopathy 1 0 trials
- Microcephaly and chorioretinopathy 2 0 trials
- Microcephaly and chorioretinopathy 3 0 trials
Microcephaly with lissencephaly and/or hydranencephaly 0 trials
2 sub-types
- NDE1-related microhydranencephaly 0 trials
- Lissencephaly 4 0 trials
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
1 sub-type
- HDAC4-related haploinsufficiency syndrome 0 trials
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

Most studied deeper sub-types

Microcephaly 6, primary, autosomal recessive (8) Allan-Herndon-Dudley syndrome (6) Intellectual developmental disorder 61 (5) Severe intellectual disability-progressive spastic diplegia syndrome (4) Developmental and epileptic encephalopathy, 13 (3) Syndromic X-linked intellectual disability Lubs type (3) Intellectual disability-severe speech delay-mild dysmorphism syndrome (2) KBG syndrome (2) Mowat-Wilson syndrome (2) Autism spectrum disorder due to AUTS2 deficiency (1) Bohring-Opitz syndrome (1) Chromosome 2q32-q33 deletion syndrome (1) Cohen syndrome (1) Developmental and epileptic encephalopathy, 25 (1) Developmental and epileptic encephalopathy 94 (1) Intellectual developmental disorder 62 (1) Intellectual disability, autosomal dominant 43 (1) Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (1) Intellectual disability, X-linked 1 (1) Intellectual disability, X-linked 102 (1)

Including sub-types (208) Tagged with Mendelian neurodevelopmental disorder (0)

Trials to join now! 83 Not yet recruiting 19 Not yet finished but already full! 52 Completed 39 Terminated 15

Mendelian neurodevelopmental disorder

Where it sits in the disease tree

Most studied deeper sub-types

New hope for infants with severe epilepsy: fenfluramine trial launches

Can a new drug curb seizures in children with severe epilepsy?

Can a pill tame the relentless hunger of Prader-Willi syndrome?

Can a new Add-On drug tame seizures in dravet syndrome?

Can a High-Fat diet and therapy tame seizures in rare childhood epilepsy?

Can a common drug boost brain function in kids with rare genetic disorder?

MCT8 deficiency drug withdrawal trial raises questions about lifelong treatment

Could a common mineral ease rare genetic disorder? zinc trial shows promise

Growth hormone trial aims to boost muscle in Prader-Willi patients

Special oil may curb paralytic attacks in rare childhood disease

New epilepsy drug shows promise in long-term safety trial

New hope for rare seizure patients: Long-Term drug safety confirmed

Hope for ataxia: experimental drug shows promise in Late-Stage trial

New lifestyle program aims to help Prader-Willi patients keep weight off

Can a daily tablet quiet the seizures of two devastating genetic disorders?

Can an experimental drug cut drop seizures in a severe childhood epilepsy?

Low-THC cannabis extract tested against rett syndrome symptoms

Could a web course tame insomnia for home ventilator users?

Can playful therapy unlock new skills in children with intellectual disability?

Virtual therapy helps kids with rare epilepsy gain daily living skills

Could a ketamine drug ease rett syndrome?

Can a wakefulness drug beat daytime sleepiness in Prader-Willi syndrome?

Warm baths tested as seizure treatment for rare childhood disorder

Could a simple oxygen mask halt rare childhood paralysis attacks?

Can a 'Love Hormone' spray tame Prader-Willi symptoms?

Would families trade daily growth hormone shots for weekly ones?

Rare disease mystery: NIH launches deep dive into Smith-Magenis syndrome

Hunting for the first clues of a devastating brain disease

How many people live with rare epilepsies in spain? a nationwide count aims to find out

Personalized sleep apnea treatment on the horizon?

Walking analysis sheds light on rare genetic disorders

Fever's impact on seizures in rare genetic disorder revealed

Researchers map the features of a rare genetic syndrome

Rett syndrome bone mystery: study probes early osteoporosis

Hormone study aims to unlock Prader-Willi feeding mystery

Could a single DNA test solve the mystery of rare brain diseases in kids?

Rare genetic Disorder's mental health patterns explored

Liquid vs. pill: new study tests easier way to take seizure drug

New study tracks why some women have lasting pain after C-Section