Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... |
OMIM:617542 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... |
OMIM:604213 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:610031 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Lissencephaly 4 |
|
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:614019 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... |
OMIM:614039 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... |
ORPHA:101029 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Band Heterotopia |
|
Subcortical band heterotopia, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus |
OMIM:600348 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Cortical dysp... |
OMIM:608716 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:250972 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Lissencephaly 3 |
|
Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Hypoplasia of the corpus callosum, Agenesis of... |
OMIM:611603 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum |
OMIM:619501 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... |
ORPHA:85179 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... |
ORPHA:300570 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum |
OMIM:233810 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus ca... |
OMIM:618492 |
Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum |
OMIM:211200 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... |
ORPHA:238722 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616681 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly |
OMIM:304100 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Hyp... |
ORPHA:255182 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callo... |
OMIM:307000 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly |
OMIM:619466 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Mental Retardation, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:612337 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly |
OMIM:252650 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Agenesis of corpus callosum, Microlissencephaly, Microcephaly |
OMIM:617090 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Lissencephaly, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:218670 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... |
ORPHA:1528 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:612948 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy |
OMIM:614924 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum |
OMIM:613163 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:614833 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lissencephaly, Agenesis of corpus callosum, Agyria, Microcephaly |
OMIM:616342 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Anencephaly, Hydrocephalus |
OMIM:614120 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
ORPHA:262767 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microcephaly, Cerebral atrophy |
OMIM:274270 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly |
OMIM:617669 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... |
ORPHA:2182 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... |
OMIM:619302 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Glycine Encephalopathy |
|
Agenesis of corpus callosum |
OMIM:605899 |
Septooptic Dysplasia |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Agenesis of... |
OMIM:182230 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly |
ORPHA:2508 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
Morm Syndrome |
|
Hyperactivity, Truncal obesity |
ORPHA:75858 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Small basal ganglia, Periventricular leukomalacia, Cerebral atrophy, ... |
OMIM:616900 |
Juvenile Huntington Disease |
|
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... |
ORPHA:248111 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum |
OMIM:617127 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... |
OMIM:619517 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Periven... |
ORPHA:255138 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Progressive microcephaly |
OMIM:607196 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:225790 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Agenesis of corpus callosum, Microlissencephaly |
OMIM:601160 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dilation of lateral ventricles, Spina bifida occulta, Agenesis of corpus callosum, Microcephaly |
OMIM:618736 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Progressive microceph... |
ORPHA:488627 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of the corpus callosum, Dysplast... |
ORPHA:2524 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Aqueductal stenosis |
ORPHA:1496 |
Craniosynostosis 6 |
|
Abnormal corpus callosum morphology, Spina bifida occulta, Agenesis of corpus callosum, Microcephaly |
OMIM:616602 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Agenesis of corpus callosum |
OMIM:600638 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:610680 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Oculocerebrodental Syndrome |
|
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology |
ORPHA:557003 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age |
OMIM:609425 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum |
OMIM:174300 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly |
OMIM:616975 |
Subependymal Nodular Heterotopia |
|
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Polymicrogyria, Focal cor... |
ORPHA:101030 |
Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:164180 |
Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
Microhydranencephaly |
|
Pachygyria, Hydranencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:605013 |
Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum |
OMIM:607131 |
Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Simplified gyral pattern, Pachygyria, Hypoplasia of the corpus callos... |
OMIM:619179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Anencephaly, Hydrocephalus, Type II lissencephaly, Cortical dysplasia, Agenesis of corpus callosum |
OMIM:615287 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Pachygyria, Small ... |
ORPHA:86822 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Primary microcephaly |
ORPHA:466688 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:218350 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Amish Lethal Microcephaly |
|
Spina bifida, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:99742 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Lissencephaly, Progressive microcephaly, Hydrocephalus, Agyria, Type II lissencephaly, Agenesis o... |
OMIM:615249 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Agenesis of corpus callosum, Myelomeningocele |
OMIM:207950 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Abnormal periventricular white matter morphology, Hydrocephalus, Agenesis of corpus callosum, Abn... |
OMIM:618476 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly, Agenesis of corpus callosum |
OMIM:202650 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Focal polymicr... |
OMIM:619103 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Decreased body weight |
OMIM:618342 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
Curry-Jones Syndrome |
|
Hemimegalencephaly, Agenesis of corpus callosum, Polymicrogyria, Megalencephaly |
OMIM:601707 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cerebral cortex, Secondary mi... |
ORPHA:357058 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Meckel Syndrome 12 |
|
Cerebral hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:616258 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Partial agenesis of the corpus callosum, Primary microcephaly, Secondary microcephaly, Hyperinten... |
ORPHA:500144 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive |
OMIM:617865 |
Isolated Exencephaly |
|
Holoprosencephaly, Anterior pituitary hypoplasia, Agenesis of corpus callosum, Posterior pituitar... |
ORPHA:563612 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Obesity |
OMIM:301013 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Hydrolethalus |
|
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Pachygyria, Agenesis of corpus callosum, Microcephaly |
ORPHA:452 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:990 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Shuffling gait, Broad-based gait, Obesity |
ORPHA:3077 |
Phenylketonuria |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Cerebrofacioarticular Syndrome |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Agenesis of corpus callosum, Micro... |
ORPHA:314679 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum |
ORPHA:363444 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity, Weight loss |
OMIM:275000 |
Gand Syndrome |
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Hyperactivity |
OMIM:615074 |
Encephalocraniocutaneous Lipomatosis |
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Porencephalic cyst, Hydrocephalus, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesi... |
OMIM:613001 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Hyperactivity, Obesity |
ORPHA:397973 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:77298 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Failure to thrive, Hyperactivity |
OMIM:615286 |
Arnold-Chiari Malformation Type Ii |
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Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Polymicrogyria, Hydroceph... |
ORPHA:1136 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Landau-Kleffner Syndrome |
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Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Cln5 Disease |
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Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Hyperactivity, Broad-based gait |
ORPHA:457260 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Inability to walk |
OMIM:618718 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypoplasia, Large basa... |
ORPHA:261552 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Hyperactivity, Decreased body weight, Broad-based gait |
OMIM:300958 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Unsteady gait, Hyperactivity |
OMIM:615516 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Small for gestational age |
OMIM:609152 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Absent septum pellucidum, Polymicrog... |
OMIM:618820 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Hyperactivity, Ataxia |
OMIM:271980 |
Mental Retardation, Autosomal Dominant 7 |
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Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia |
OMIM:614104 |
X-Linked Creatine Transporter Deficiency |
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Athetosis, Dystonia, Cachexia, Hyperactivity, Ataxia |
ORPHA:52503 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hyperactivity, Gait ataxia, Ataxia, Limb dystonia |
ORPHA:363400 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Failure to thrive, Hyperactivity |
OMIM:619239 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
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Failure to thrive, Hyperactivity |
ORPHA:369939 |
Rasmussen Subacute Encephalitis |
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Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
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Hyperactivity |
OMIM:615824 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... |
ORPHA:73272 |
Holoprosencephaly 7 |
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Panhypopituitarism, Hydrocephalus, Alobar holoprosencephaly, Fusion of the left and right thalami... |
OMIM:610828 |
Fragile X Syndrome |
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Hyperactivity |
OMIM:300624 |
Intellectual Developmental Disorder, X-Linked 21 |
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Hyperactivity |
OMIM:300143 |
Myoclonic-Astatic Epilepsy |
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Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:1942 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Hyperactivity, Obesity |
OMIM:614613 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity |
ORPHA:101039 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum |
ORPHA:556955 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity |
ORPHA:85327 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Colpocephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:309801 |
13Q12.3 Microdeletion Syndrome |
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Failure to thrive, Hyperactivity, Obesity |
ORPHA:412035 |
Infantile Neuroaxonal Dystrophy |
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Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hyperactivity |
OMIM:618314 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Colpocephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, Agene... |
OMIM:301043 |
Hartsfield Syndrome |
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Gonadotropin deficiency, Lobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:615465 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Gait imbalance, Ataxia, Hyperactivity, Broad-based gait, Obesity |
ORPHA:98794 |
Zttk Syndrome |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Periventricular leukomalacia, Abno... |
OMIM:617140 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Weight loss, Small for gestational age |
ORPHA:424 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Pineal cyst, Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Abnormal prolactin level, Septo-optic dysplasia, Holoprosencephaly, Decreased response to growth ... |
ORPHA:95494 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
Angelman Syndrome |
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Hyperactivity, Obesity, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia |
OMIM:610042 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Weight loss |
ORPHA:99819 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Dysplas... |
OMIM:613406 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Abnormal cerebral cortex morphology, Simplified gyral pattern, Polymi... |
ORPHA:500150 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
47,Xyy Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
Holoprosencephaly 1 |
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Alobar holoprosencephaly, Ethmocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:236100 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Anterior pituitary hypoplasia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
ORPHA:466791 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm |
OMIM:234200 |
Legius Syndrome |
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Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Argininemia |
|
Hyperactivity, Spastic gait |
OMIM:207800 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
Choreoacanthocytosis |
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Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Weight loss, Falls, Bradykinesia, L... |
ORPHA:2388 |