Gene Summary

Name:
kinesin family member 3B
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Kif3btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased bone mineral content Kif3btm1b(EUCOMM)Wtsi HET Early adult 9.12×10-05
prenatal lethality prior to heart atrial septation Kif3btm1b(EUCOMM)Wtsi HOM   E15.5 0.00
increased grip strength Kif3btm1b(EUCOMM)Wtsi HET Early adult 6.62×10-09

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 100 images

Human diseases caused by Kif3b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kif3b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955

The table below shows human diseases predicted to be associated to Kif3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Irritability, Spastic tet... OMIM:616657
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Hypoplasia of the corpus callosum, Hypertonia, Spastic tetrapare... OMIM:604317
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Abnormality of extrapyramidal motor funct... ORPHA:275864
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, F... ORPHA:412066
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Frontotemporal dementia, ... OMIM:600795
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Pachygyria, Stereotypy OMIM:606053
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Poor eye contact, Tetraparesis, Ataxia, Dysplastic corpus callosum, ... OMIM:618276
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cerebral atrophy, Irritability, Stereotypy, Microcephaly, Spasticity OMIM:617393
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Foxg1 Syndrome
Inability to walk, Impaired social interactions, Dystonia, Choreoathetosis, Pachygyria, Inappropr... ORPHA:561854
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Self-injurious behavior, Hypertonia, Secondary microcephaly, P... OMIM:615282
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Microcephaly, Attent... OMIM:618709
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Abnormal cerebral white matter morphology, A... ORPHA:248111
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Depression, Hypoplasia of the corpus callosum, Chorea, Cerebr... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Hypoplasia of the corpus callosum, Poor eye contact, Ataxia, Cerebra... OMIM:300983
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Myoclonus, Hyperactivity, Agenesis of c... OMIM:605899
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Apathy, Frontotemporal dementia, Amyotrophic lateral sclerosis, Emotional lability... OMIM:612069
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Unsteady gait, Stereotypy, Microcephaly OMIM:614063
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Inappropriate laughter, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordi... OMIM:619150
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Spasticity ORPHA:356996
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Lower limb spa... OMIM:613162
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Progres... OMIM:617862
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Smith-Magenis syndrome
Self-mutilation, Stereotypy, Hyperactivity DECIPHER:8
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Inappropriate crying, Self-injurious behavior, Hyperkinetic movemen... ORPHA:397933
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Inappropriate laughter, Ina... ORPHA:3095
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontot... OMIM:172700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Hyp... OMIM:615924
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Autism
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608636
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Self-injurious behavior, Chorea, ... OMIM:618760
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Irritability, Stereotypical hand wringing, Mi... ORPHA:500545
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplas... ORPHA:280763
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Impulsivity, Recurrent hand flapping, Hyperactivity, Stereotypic... ORPHA:100973
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Anxiety, Stereotypy, Hyperactivity, Microcephaly OMIM:609425
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Simplified gyral pattern, Hyperactivity, Microcephaly,... OMIM:613402
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Hypoplasia of the corpus callosum, Limb ataxia, Poor coord... OMIM:617695
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Clumsiness, De... ORPHA:79264
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Mental Retardation, Autosomal Recessive 39
Microcephaly, Aggressive behavior, Stereotypy, Hyperactivity OMIM:615541
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Mental Retardation, Autosomal Dominant 33
Microcephaly, Hyperactivity OMIM:616311
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Developmental And Epileptic Encephalopathy 58
Inability to walk, Secondary microcephaly, Spastic diplegia, Stereotypy OMIM:617830
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Hyperprolinemia, Type I
Stereotypy, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Impulsivity, Anxiety, Hyperactivity, Microce... OMIM:616977
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Attention defi... OMIM:613670
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Abnormality of extrapyramidal moto... ORPHA:500180
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Cortical dysplasia, Focal cortical dys... OMIM:610042
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Corpu... ORPHA:228360
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Stereotypy, Hy... OMIM:618718
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Self-injurious behavior, Cerebral atrophy, Ster... OMIM:618917
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Partial agenesis o... OMIM:604213
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Abnormal social behavior, Gait disturbance, Ataxia,... ORPHA:391417
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Upper limb spasticity, Hypoplasia of... ORPHA:485350
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Hyperactivity, Tetraplegia, Microcephaly, Agenesis of cor... OMIM:274270
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, C... OMIM:612716
Pandas
Claustrophobia, Clumsiness, Depression, Tics, Chorea, Agoraphobia, Emotional lability, Separation... ORPHA:66624
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Corpus callosum atrophy, Aggressive behavior, Dementia, Hy... ORPHA:168491
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Cerebral calcification, ... OMIM:261600
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Lower ... ORPHA:3077
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Self-injurious b... ORPHA:208447
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Speech apraxia, Depression, Steppage gait, Slurred speech, Emot... ORPHA:98818
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Self-injurious... ORPHA:178469
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Disinhibition, Neurofibrillary tangles, Dementia, Abnormal social behavior, Hypertonia, ... ORPHA:1020
Immunodeficiency 8
Hyperactivity OMIM:615401
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Involuntary movements, Hemiparesis, Emotional lability, Subcorti... ORPHA:1929
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Cerebral dysmyelination, Dysplastic corpus callos... OMIM:252650
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Inappropriate l... ORPHA:85278
Insulin-Like Growth Factor I Deficiency
Microcephaly, Hyperactivity OMIM:608747
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Disinhibition, Neurofibrillary tangles, Hypersexuality, Apathy, Frontotemporal dementia,... OMIM:607485
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Myoclonus, Hyperactivity, Mental deterioration ORPHA:2382
Thoraco-Abdominal Enteric Duplication
Meningocele, Dextrocardia, Diastomatomyelia, Abnormal tricuspid valve morphology ORPHA:1759
Xq25 Microduplication Syndrome
Hypoplasia of the corpus callosum, Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hypoplasia of the corpus callosum, Anxiety, Hyperactivity OMIM:300979
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Hypoplasia of the corpus callosum, Anxiety, Stereotyp... DECIPHER:45
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hypoplasia of the corpus callosum, Babinski sign, Hyperactivity, Secondary m... OMIM:617773
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Dystonia, Type II lissencephaly, Spastic diplegia, Emotional lability... ORPHA:300570
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Anxiety, Stereotypy, Microcephaly, Attention deficit hyperactivity disorder OMIM:618906
Mental Retardation, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Gait disturbance, Ataxia, Cerebral cortical atrophy, Ster... OMIM:614104
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Cortical dysplasia, Hyperactivity, Microc... ORPHA:457260
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Recurrent h... OMIM:618859
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Depression, Upper limb spasticity, Gait disturbance, Hyperkinetic moveme... ORPHA:457240
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Poor eye contact, Unsteady gait, Happy demeanor, Stere... OMIM:617807
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... ORPHA:391307
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Microcephaly, Repetitive compulsive behavior, Cerebral pal... ORPHA:352490
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Cerebral atrophy, Tetraparesis, Abnormal pyramidal ... ORPHA:363400
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Decreased response to growth hormone stimuation test, Hyperactivity, Microce... OMIM:615286
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Hypoplastic hippocampus, Chorea, Hyperkinetic movements, Ataxia, Myo... OMIM:619317
Rett Syndrome, Congenital Variant
Impaired social interactions, Dystonia, Apraxia, Pachygyria, Inappropriate crying, Hypoplasia of ... OMIM:613454
Ck Syndrome
Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity, Microcephaly, Abnor... ORPHA:251383
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Hyperactivity, Chorea, Hypert... OMIM:610217
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Aggressive behavior, Abnormal pyramidal s... ORPHA:369939
Caudal Duplication
Spina bifida, Myelomeningocele, Spinal cord lesion ORPHA:1756
Intellectual Developmental Disorder, X-Linked 98
Poor eye contact, Secondary microcephaly, Ataxia, Stereotypy, Hyperactivity, Microcephaly, Spasti... OMIM:300912
Infantile Neuroaxonal Dystrophy
Dystonia, Abnormal cerebral white matter morphology, Psychomotor deterioration, Abnormal pyramida... ORPHA:35069
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Dementia, Punctate periventricular T2 hyperintense foci, Progressive gait a... ORPHA:309271
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Emotional lability, Anxiety, Stereotypy, Cognitive impairment, Microcephaly, Pa... ORPHA:927
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Bradykinesia, Dysplastic corpu... OMIM:614924
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Progressive microcephaly, Broad-based gait, Happy... OMIM:617865
Chiari Malformation Type Ii
Spina bifida, Cervical myelopathy, Syringomyelia, Myelomeningocele, Hydrocephalus OMIM:207950
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Microcephaly, Aggressive behavior, Hyperactivity OMIM:300558
Cdkl5-Deficiency Disorder
Inappropriate laughter, Difficulty walking, Poor eye contact, Gait disturbance, Stereotypical han... ORPHA:505652
Choreoacanthocytosis
Hair-pulling, Hypertonia, Head titubation, Emotional lability, Head-banging, Cerebral cortical at... ORPHA:2388
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Depression, Anxiety, Stereotypy, Cognitive impairment... ORPHA:98784
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Inappropriate laughter, Aggressive behavior, Poo... OMIM:103050
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Corpus callosum atrophy, Tongue thrusting, Microcephaly, Diffuse cerebral a... ORPHA:77299
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Aggressive behavior, Dementia, Disinhibition, Paraparesis, Gait distu... ORPHA:43
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Occipital cortical atrophy, Hypoplasia of the corpus callosum, Poor eye contac... ORPHA:411986
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Dystonia, Aggressive behavior, Hypoplasia of the corpus callosum, G... OMIM:300352
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Cessation of head growth, Hyperactivity, Broad-based gait, Happy ... ORPHA:411515
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy, Microcephaly OMIM:619092
Coffin-Siris Syndrome 6
Tics, Periventricular leukomalacia, Anxiety, Stereotypy, Attention deficit hyperactivity disorder OMIM:617808
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
11Q22.2Q22.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Abnormal social behavior, Poor eye contact, Anxiety, Attention... ORPHA:444002
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Gait disturbance, Poor coordination, Ataxia, Recurrent hand... ORPHA:544254
Myoclonic-Astatic Epilepsy
Impaired social interactions, Tremor, Abnormal emotion/affect behavior, Abnormal pyramidal sign, ... ORPHA:1942
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Clumsiness, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abn... ORPHA:309263
Ck Syndrome
Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity, Microcephaly OMIM:300831
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Depression, Poor eye contact, Impulsivity, Anxiety, Self-biting, Microcephal... ORPHA:293939
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Aggressive behavior, Hyperactivity OMIM:618342
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Hyperactivity, Hypoplasia of the corpus callosum, Ataxia, Cessati... ORPHA:98794
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Stereotypy, Upper motor neuron dysfunction, Hyperactivity, Micr... ORPHA:530983
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal cerebral wh... OMIM:300354
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Stereotypy, Hyperactivity, Microc... ORPHA:228402
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Hyperkinetic movements, Ataxia, Anxiety, Hyperactivity OMIM:271980
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
Optic Atrophy 11
Hyperkinetic movements, Ataxia, Dysmetria, Leukoencephalopathy, Hyperactivity, Microcephaly OMIM:617302
4Q21 Microdeletion Syndrome
Self-injurious behavior, Tremor, Agenesis of corpus callosum, Stereotypy ORPHA:238750
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Hypertonia, Anxiety, ... OMIM:123450
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Aggressive behavior, Hypoplasia of the corpus callosum, Spastic gait, Spastic tet... OMIM:619121
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy, Recurrent hand flapping OMIM:617268
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Low f... ORPHA:646
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Choreoathetosis, Hypoplasia of the corpus callosum, Lower limb hypertonia, D... ORPHA:2524
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hypoplasia of the corpus callosum, Hyperactivity, Microcephaly, Broad-based ... OMIM:300958
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Radio-Tartaglia Syndrome
Tremor, Aggressive behavior, Poor eye contact, Gait imbalance, Ataxia, Impulsivity, Stereotypy, M... OMIM:619312
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Self-biting, Stereotypy, Hyperactivity, Microcephaly ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Inability to walk, Depression, Chorea, Poor eye contact, Hostility, Ataxi... OMIM:300260
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Clumsiness, Punctate periventricular T2 hyperintense foci, Progressive gai... ORPHA:309256
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Anxiety, Stereotypy, Attention deficit hyperactivit... ORPHA:313892
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Self-injurious behavior, Hypertonia, Impu... OMIM:618914
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Hyperactivity, Poor eye c... ORPHA:72
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Punding, Anxiety, Limb myoclonus, Attentio... ORPHA:64280
Gand Syndrome
Tics, Inappropriate laughter, Hyperactivity OMIM:615074
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Hyperactivity OMIM:300434
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Head-banging, Dysplastic corpus callosum, Stereotypy, Microcephaly, Attenti... OMIM:619103
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Abnormality of extrapyramidal motor function, Hyperactivity, Rigidity, Spasticity, Akin... OMIM:234200
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Angelman Syndrome Due To A Point Mutation
Inappropriate laughter, Ataxia, Tongue thrusting, Cessation of head growth, Recurrent hand flappi... ORPHA:411511
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Polymicrogyria, Stereotypy, Microcephaly, Dilation of lateral ... OMIM:617751
48,Xxyy Syndrome
Tremor, Depression, Ataxia, Anxiety, Stereotypy, Attention deficit hyperactivity disorder ORPHA:10
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Poor eye contact, Stereotypy, Hyperactivity, Microcephaly OMIM:610883
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Difficulty walking, Hypoplasia of the corpus callosum, Multifocal hyperinten... ORPHA:488627
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Low frustration tolerance, Stereotypy, Thin corpus callosum, Attention deficit ... OMIM:619293
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Abnormal periventricular white matter morphology, Diff... ORPHA:139396
X-Linked Intellectual Disability, Cantagrel Type
Stereotypy, Hypoplasia of the corpus callosum, Tetraparesis, Cerebral cortical atrophy ORPHA:85277
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Limb hypertonia, Irritabil... OMIM:608643
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Hypertonia, Ataxia, Hyperactivit... OMIM:601853
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Clonus, Hypoplasia of the corpus callosum, Hypertonia, Primary microcephaly, Lower ... ORPHA:447997
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Hypertonia, Primary microcephaly, Myoclonus, Stereotypical han... ORPHA:289266
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Self-injurious behavior, Poor eye contact, ... ORPHA:457351
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Abnormal pyramidal sign, Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of co... OMIM:614833
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia OMIM:618205
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Lipomyelomeningocele, Hydroc... ORPHA:268810
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Chorea, Hypertonia, Ataxia, Hyperactivity, Microcephaly, Athetosis ORPHA:52503
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Stereotypy, Hyperactivity OMIM:182290
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Anxiety, Repetitive compulsive behavior, Attention deficit hyperactivity disord... ORPHA:391372
Developmental And Epileptic Encephalopathy 87
Hypertonia, Cerebral atrophy, Recurrent hand flapping OMIM:618916
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Aggressive behavior, Abnormal cerebral white matter morphology, Ataxia, ... ORPHA:457279
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Intrauterine growth re... OMIM:611134
Hyperphosphatasia With Mental Retardation Syndrome 6
Microcephaly, Aggressive behavior, Hyperactivity OMIM:616809
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
5Q14.3 Microdeletion Syndrome
Stereotypy, Hypoplasia of the corpus callosum, Frontal cortical atrophy ORPHA:228384
22Q11.2 Duplication Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Anxiety, Stereotypy ORPHA:1727
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Secondary microcephaly, Hyperactivity OMIM:613192
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, Pr... ORPHA:778
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Dystonia, Chorea, Poor eye contact, Hyperkinetic movements, Hemiballismus, Ataxi... ORPHA:522077
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Aggressive behavior, Emotional lability, Low frustration tolerance,... OMIM:309520
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Microcephaly, Aggressive behavior, Stereotypy OMIM:618825
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Corticospinal tract hypoplasia, Self-injurious behavio... ORPHA:819
Alazami Syndrome
Self-mutilation, Stereotypical hand wringing, Anxiety, Stereotypy ORPHA:319671
Phelan-Mcdermid Syndrome
Impaired social interactions, Aggressive behavior, Abnormal periventricular white matter morpholo... OMIM:606232
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Self-injurious behavior, Dysplastic corpus callosum, Hyperintensity of cereb... ORPHA:544488
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608049
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Tremor, Agenesis of corpus callosum, Cerebral white matter atrophy, Dyston... ORPHA:3008
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity OMIM:618504
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Hypoplastic hippocampus, Abnormal social behavior, Abnormal pyramidal sign, ... ORPHA:314647
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Dystonia, Pachygyria, Thick cerebral cortex, Slurred speech, Ataxia, Primary m... ORPHA:357058
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Tics, Abnormal cerebral white matter morphology, Lower l... ORPHA:363686
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Abnormality of the spinal cord ORPHA:99947
Mental Retardation, Autosomal Dominant 40
Microcephaly, Gait ataxia, Stereotypy OMIM:616579
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Stereotypy ORPHA:397612
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Meningocele, Hydranencephaly, Intrauterine growth retard... ORPHA:1393
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Tremor, Gait ataxia, Aggressive behavior, Primary microcephaly, Stereotypy, Seco... ORPHA:476126
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:616900
Intellectual Disability, Birk-Barel Type
Tongue fasciculations, Fatiguable weakness of proximal limb muscles, Fatigable weakness of skelet... ORPHA:166108
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal hippocampus morphology, Repetitive compulsive behavio... ORPHA:401777
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Niemann-Pick Disease, Type C2
Dystonia, Neurofibrillary tangles, Dementia, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Abnormal corpus callosum morphology, Low frustrat... ORPHA:319182
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Stereoty... OMIM:615802
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Spastic tetraparesis, Dysplastic corpus callosum, ... OMIM:619179
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum, Stereotypy OMIM:613174
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Polymicrogyr... ORPHA:500159
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, El... ORPHA:209905
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, ... ORPHA:468631
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical at... ORPHA:496641
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Choreo... ORPHA:261197
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Decreased response to growt... ORPHA:177907
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly ORPHA:2211
Mental Retardation, Autosomal Dominant 34
Secondary microcephaly, Stereotypy, Broad-based gait OMIM:616351
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Ataxia, Stereotypy, Attention ... ORPHA:435638
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Agenesis of corpus callosum, Stereotypy ORPHA:261144
White-Sutton Syndrome
Incoordination, Aggressive behavior, Hypoplasia of the corpus callosum, Self-injurious behavior, ... ORPHA:468678
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Tongue thrusting, Hyperactivity, Microcephaly, Age... ORPHA:261323
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Upper limb spasticity, Ataxia, Lower limb spasticity, Myoclonus, Stere... OMIM:619229
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Citrullinemia Type Ii
Tremor, Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory impairment, Cerebral e... ORPHA:247585
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Poor coordination, Ataxia, Anxiety, Hyperactivity, Spasticity OMIM:618430
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Cerebral cortical atrophy, Limb tremor, Paroxysmal bursts of... OMIM:105830
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Syringomyelia, Myelomeningocele,... ORPHA:63259
48,Xxxy Syndrome
Tremor, Abnormal social behavior, Irritability, Anxiety, Attention deficit hyperactivity disorder... ORPHA:96263
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord ORPHA:139578
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Aggressive behavior, Hypertonia, Unsteady gait, Stereotypy, Microcephaly OMIM:212066
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Aggressive behavior, Hyperactivity ORPHA:85327
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Incoordination, Aggressive behavior, Spastic paraparesis, Ataxia, Hyperactivity ORPHA:369891
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Stereotypy, Decreased response to growth hormone stimuation test OMIM:615873
19P13.3 Microduplication Syndrome
Self-injurious behavior, Cerebral atrophy, Irritability, Hyperactivity, Microcephaly ORPHA:447980
Kleefstra Syndrome
Self-mutilation, Aggressive behavior, Self-injurious behavior, Cerebral cortical atrophy, Stereot... ORPHA:261494
Bainbridge-Ropers Syndrome
Inability to walk, Abnormal cerebral white matter morphology, Hypertonia, Recurrent hand flapping... ORPHA:352577
Developmental And Epileptic Encephalopathy 2
Inability to walk, Poor eye contact, Myoclonus, Stereotypy, Progressive microcephaly OMIM:300672
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Self-injurious behavior, Ataxia, Dysplastic corpus callosum, M... ORPHA:314679
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Gait disturbance, Spasticity, Impulsivity... ORPHA:363528
Keratoderma Hereditarium Mutilans
Abnormality of the spinal cord ORPHA:494
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Impulsivity, Hyperactivit... ORPHA:8
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Head-banging, Dysplastic corpus callosum, Microcephaly, Spasti... OMIM:618569
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements, Irritability, Hyperactivity, Microcephaly, Mood swings ORPHA:525731
7Q11.23 Microduplication Syndrome
Impaired social interactions, Aggressive behavior, Hyperactivity, Self-injurious behavior, Unstea... ORPHA:96121
Kleefstra Syndrome 1
Apathy, Microcephaly, Aggressive behavior, Stereotypy OMIM:610253
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder, Decr... ORPHA:485405
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Cessation of head growth, Secondary microcephaly, Gait imbalance, Broad-based gait ORPHA:98795
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
Glass Syndrome
Aggressive behavior, Happy demeanor, Hyperactivity, Microcephaly, Broad-based gait OMIM:612313
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Abnormal social behavior, Self-injurious behavior, Impulsivity, ... ORPHA:805
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy ORPHA:488618
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Babinski sign, Hyperactivity, C... OMIM:609727
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Dilated Cardiomyopathy With Ataxia
Dystonia, Bilateral basal ganglia lesions, Ataxia, Action tremor, Lower limb spasticity, Repetiti... ORPHA:66634
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Oculomotor apraxia, Ataxia, Hemifacial spasm, Hyperactivity... OMIM:213300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Polymicrogyria, Hyperactivity ORPHA:457485
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Hypertonia, Cerebral atrophy, Hyperintensity of cere... ORPHA:1675
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Episodic ataxia, Tremor, Pachygyria, Dystonia, Hypoplasia of ... ORPHA:1934
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Hyperactivity, Microcephaly, Broad-based gait ORPHA:85293
2Q37 Microdeletion Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Stereotypy ORPHA:1001
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Gait disturbance, Cerebral cortical atrophy, Anxiety, Stereoty... ORPHA:464311
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Microcephaly, Ataxia ORPHA:2479
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Anterior pituitary hypoplasia, Primary micro... ORPHA:464306
19P13.12 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Self-injurious behavior, Microcephaly, Hyperactivity ORPHA:254346
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Hyperlysinemia
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Fatigable weakness of swallowing muscles, Vocal cord paresi... ORPHA:581
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Pagod Syndrome
Meningocele, Spina bifida, Situs inversus totalis, Hypoplastic left heart ORPHA:991
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Poor motor coordination, Ataxia, Cerebral cortical atrophy, Unsteady gait, H... OMIM:614756
Chromosome 10Q26 Deletion Syndrome
Microcephaly, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:609625
Trisomy 18
Spina bifida, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Anencephaly, In... ORPHA:3380
Chromosome 13Q33-Q34 Deletion Syndrome
Aggressive behavior, Anencephaly, Hyperactivity, Microcephaly, Agenesis of corpus callosum OMIM:619148
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotiona... ORPHA:353281
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Hypertonia, Opisthotonus, No social interac... ORPHA:508533
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormality of the spinal cord ORPHA:53721
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Hyperactivity, Cerebral... ORPHA:760
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Stereotypy ORPHA:213
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Hyperactivity OMIM:619239
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Spasticity OMIM:618810
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavior, Small pituitary gland, Atten... ORPHA:93932
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Abnormal car... ORPHA:2092
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular septal defect, ... OMIM:256520
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Solitary Bone Cyst
Abnormality of the spinal cord ORPHA:83468
Mend Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal social behavior, Limb hypertonia... ORPHA:401973
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Hemiparesis, Tongue thrusting, Abnormalit... ORPHA:369950
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Spastic gait, Irritability, Hyperactivity,... OMIM:207800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotiona... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotiona... ORPHA:353277
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Self-mutilation, Attention deficit hyperactivity disorder, Stereotypy OMIM:619005
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Aggressive behavior, Speech apraxia, Ataxia, Dysplastic corpus callosum, Impulsivity, Thi... OMIM:300967
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Impulsivity, Stereotypy, Hyperactivity... ORPHA:580
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular septal de... ORPHA:508498
Koolen-De Vries Syndrome
Hypoplasia of the corpus callosum, Impulsivity, Anxiety, Hyperactivity, Conspicuously happy dispo... OMIM:610443
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Pachygyria, Hypoplasia of the corpus callosum, Stereotypy, Microcephaly, Repetitive ... ORPHA:513456
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:274000
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventricular septal def... ORPHA:567
Ogden Syndrome
Microcephaly, Hypertonia, Cerebral atrophy, Stereotypy OMIM:300855
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Brooks-Wisniewski-Brown syndrome
Cerebral atrophy, Spastic diplegia, Poor coordination, Hyperactivity, Microcephaly, Agenesis of c... OMIM:300612
Fanconi Anemia
Spina bifida, Atrial septal defect, Azoospermia, Patent ductus arteriosus, Abnormal aortic valve ... ORPHA:84
Nail-Patella Syndrome
Spina bifida OMIM:161200
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Spastic tetraparesis, Hyperactivity, Microcephaly, Frequen... ORPHA:239
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Patent urachus, Intrauterine g... OMIM:192350
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Inappropriate laughter, Speech apraxia, Hypoplasia of the corpus callosum, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Inappropriate laughter, Speech apraxia, Hypoplasia of the corpus callosum, Abno... ORPHA:363958
Cardiofaciocutaneous Syndrome 1
Aplasia/Hypoplasia of the corpus callosum, Hypertonia, Oculomotor apraxia, Cerebral cortical atro... OMIM:115150
Jacobsen Syndrome
Spina bifida, Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Intrauter... ORPHA:2308
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Pseudobulbar paralysis, Shyness, Aggressive behavior, Speech apraxia, Hypoplasia of the corpus ca... ORPHA:466791
Hypotonia, Ataxia, And Delayed Development Syndrome
Gait ataxia, Truncal ataxia, Speech apraxia, Ataxia, Stereotypy, Dysmetria, Microcephaly, Broad-b... OMIM:617330
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aggressive behavior, Hypoplasia of the corpus callosum, Hypertonia, Gait disturbance, Ataxia, Cer... ORPHA:268261
Witteveen-Kolk Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hyperactivity... OMIM:613406
Norrie Disease
Clonus, Self-injurious behavior, Hypertonia, Cerebral cortical atrophy, Abnormality of the dience... ORPHA:649
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Dysplastic corpus callosum, Polymicrogyria... OMIM:618820
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic diplegia, Poor coordination, Stereot... OMIM:309590
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Hypoplasia of the corpus callosum, Microcephaly, Stereotypy OMIM:618653
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Split Cord Malformation
Cervical spina bifida, Spinal cord tumor, Hydromyelia, Meningocele, Syringomyelia, Lipomyelomenin... ORPHA:573278
Rubinstein-Taybi Syndrome 1
Self-mutilation, Poor coordination, Agoraphobia, Unsteady gait, Impulsivity, Abnormal fear/anxiet... OMIM:180849
1P36 Deletion Syndrome
Self-injurious behavior, Gait disturbance, Hemiplegia/hemiparesis, Cerebral cortical atrophy, Ste... ORPHA:1606
Coffin-Siris Syndrome
Aggressive behavior, Hyperactivity, Microcephaly, Simplified gyral pattern, Agenesis of corpus ca... ORPHA:1465
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Intraute... ORPHA:1724
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Unsteady gait, Stereotypy OMIM:616682
Monosomy 22Q13.3
Hair-pulling, Agenesis of corpus callosum, Hyperactivity ORPHA:48652
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Anxiety, Stereotypy, Clonus, Attention deficit hyperactivity... ORPHA:534
Kinsship Syndrome
Spastic tetraparesis, Primary microcephaly, Myoclonus, Stereotypy, Microcephaly OMIM:619297
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of the spinal cord ORPHA:88628
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormality of the spinal cord ORPHA:139399
Tetrasomy 9P
Pericarditis, Patent foramen ovale, Oligospermia, Abnormal mitral valve morphology, Umbilical her... ORPHA:3310
Acute Disseminated Encephalomyelitis
Myelitis, Abnormality of the spinal cord ORPHA:83597
Arboleda-Tham Syndrome
Microcephaly, Lower limb hypertonia, Gait imbalance, Stereotypy OMIM:616268
Zttk Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Dysplastic corpus c... OMIM:617140
Trichotillomania
Hair-pulling OMIM:613229
Aicardi Syndrome
Spina bifida OMIM:304050
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hyperactivity ORPHA:457284
Mowat-Wilson Syndrome
Inability to walk, Impaired social interactions, Hypoplasia of the corpus callosum, Abnormal cere... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Involuntary movements, Absent septum pellucidum, Abnormality of the ... ORPHA:438213
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93924
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Broad-based gait, Hypoplasia of the corpus callosum, Poor fine motor coordinat... ORPHA:261537
Williams Syndrome
Overfriendliness, Tremor, Abnormality of extrapyramidal motor function, Depression, Atrophy/Degen... ORPHA:904
Maternal Phenylketonuria
Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity ORPHA:2209
Schinzel-Giedion Syndrome
Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Broad-based gait, Hypoplasia of the corpus callosum, Poor fine motor coordinat... ORPHA:261552
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Poor eye contact, Stereotypy... OMIM:301044
Wolf-Hirschhorn Syndrome
Cavum septum pellucidum, Absent septum pellucidum, Periventricular cysts, Stereotypy, Microcephal... OMIM:194190
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormality of the spinal cord ORPHA:68
Lowe Oculocerebrorenal Syndrome
Periventricular cysts, Aggressive behavior, Stereotypy OMIM:309000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome