Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CAP-GLY domain containing linker protein 2
Synonyms:
WSCR4,  Cyln2,  CLIP-115

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clip2 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 Clip2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Williams Syndrome
Ataxia, Cerebral cortical atrophy, Dysmetria, Short stature, Atrophy/Degeneration involving the c... ORPHA:904

The table below shows human diseases predicted to be associated to Clip2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation, Cerebral atrophy OMIM:614023
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Simplif... OMIM:617800
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse swelling of cerebral white matter, Ataxia, Cerebral atrophy, Mental deterioration, Progre... OMIM:613925
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Microcephaly, Abnormal cerebral morphology, Ventriculomegaly, Abnormal cer... ORPHA:329228
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Short stature, Microcephaly, Truncal obesity, Postnatal growth retardation OMIM:618160
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Simplified gyral pattern, Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:615763
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... OMIM:604213
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation, Basal ganglia calcification OMIM:615361
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Microcephaly, Seizures, And Developmental Delay
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcepha... OMIM:613402
Microlissencephaly
Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Polymicrogyria, Hypoplasia of t... ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Cerebral cortical atrophy, Short stature, Hypoplasia of the corpus callosum, Ventriculome... OMIM:617862
Lissencephaly 3
Ataxia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Lissencephaly, V... OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ataxia, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callos... OMIM:618709
Lissencephaly, X-Linked, 1
Ataxia, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesis of corpus callosum OMIM:300067
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... OMIM:615937
Microcephaly 5, Primary, Autosomal Recessive
Short stature, Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus ... OMIM:608716
Porencephaly
Porencephalic cyst, Ventriculomegaly ORPHA:2940
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Short stature, Microcephaly, Ventriculomegaly, Cerebral white matter h... ORPHA:3207
Bowen-Conradi Syndrome
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Micro... ORPHA:1270
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly,... OMIM:618730
Lissencephaly 1
Abnormal cerebral white matter morphology, Agyria, Lissencephaly, Ventriculomegaly, Subcortical b... OMIM:607432
Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral atrophy, Ventriculomegaly OMIM:612900
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2732
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Cerebral atrophy, Ventriculomegaly OMIM:617051
Microcephaly 17, Primary, Autosomal Recessive
Failure to thrive, Short stature, Microcephaly, Ventriculomegaly, Simplified gyral pattern, Micro... OMIM:617090
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly OMIM:616486
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Short stature ORPHA:2466
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Primary microcephaly, Ventriculomegaly, Polymicrogyria ORPHA:171703
Band Heterotopia
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Lissencephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618677
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:233810
Combined Oxidative Phosphorylation Deficiency 39
Microcephaly, Ventriculomegaly, Simplified gyral pattern, Pachygyria, Intrauterine growth retarda... OMIM:618397
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Ataxia OMIM:618383
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Agyria, Pachygyria, Ventriculomegaly ORPHA:1084
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Impaired vibratory sensation, Microcephaly, Cortical dysplasia, Ventriculomega... ORPHA:319199
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Chorea, Abnormal cerebral white matter morphology, Gait at... ORPHA:248111
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Microcephaly, Ventriculomegaly, Short stature ORPHA:1261
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia ... ORPHA:255182
Yoon-Bellen Neurodevelopmental Syndrome
Failure to thrive, Ataxia, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ven... OMIM:619701
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Ataxia OMIM:618276
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Ataxia, Focal white matter lesions, Cerebral calcification, Microcephaly, At... OMIM:612951
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hyperintensity of cerebral white matter on MRI, Cerebral dysmyelination, Progressive neurologic d... OMIM:611722
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation, Ataxia, Decreased body weight, Hypoplasia of the corpus callosum... ORPHA:255138
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Progressive neurologic deterioration, Dysmetria, Ventriculomegaly OMIM:618251
Microcephaly-Cardiomyopathy Syndrome
Short stature, Cognitive impairment, Microcephaly, Ventriculomegaly, Intrauterine growth retardation ORPHA:2515
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Short stature, Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, ... ORPHA:262767
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Intrauterine growth retardation, Ventriculomegaly ORPHA:1980
Joubert Syndrome 31
Truncal ataxia, Ventriculomegaly, Hypoplasia of the corpus callosum, Cognitive impairment OMIM:617761
Masa Syndrome
Hydrocephalus, Short stature, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Ataxia, Severe short stature, Ventriculomegaly OMIM:225755
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Ventricul... ORPHA:85179
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Small for gestational age, Microcephaly, Basal ganglia cysts, Choreoathetosis, ... OMIM:312170
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Microcephaly, Ventriculomegaly, Pachygyria OMIM:617613
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Short stature, Abnormal basal ganglia MRI signal intensity, Ve... ORPHA:644
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Kohlschutter-Tonz Syndrome
Ataxia, Cerebral atrophy, Ventriculomegaly, Dementia OMIM:226750
2,4-Dienoyl-Coa Reductase Deficiency
Failure to thrive, Cerebral atrophy, Microcephaly, Choreoathetosis, Ventriculomegaly OMIM:616034
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Cerebral hypoplasia, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617977
Hsd10 Disease
Ataxia, Focal white matter lesions, Microcephaly, Choreoathetosis, Ventriculomegaly, Postnatal gr... ORPHA:391417
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Frontal cortical atrophy, Ventriculomegaly, Short stature OMIM:300699
Mehmo Syndrome
Small for gestational age, Microcephaly, Birth length less than 3rd percentile, Hypoplasia of the... OMIM:300148
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Short stature, Microcephaly, Ventriculomegaly, Growth delay, Pac... ORPHA:2512
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Neuronal Intranuclear Inclusion Disease
Leukoencephalopathy, Ataxia, Cognitive impairment, Somatic sensory dysfunction, Ventriculomegaly,... OMIM:603472
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Cerebral calcification, Microcephaly, Ventriculomegaly, Intrauterine g... ORPHA:939
Gabriele-De Vries Syndrome
Abnormal cerebral white matter morphology, Intrauterine growth retardation, Ventriculomegaly OMIM:617557
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Chorea, Athetosis, Ventriculom... OMIM:617493
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Short stature, Large for gestational age, Ventriculomegaly, Growth delay OMIM:616116
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Ventriculomegaly OMIM:619323
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:1568
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Short stature, Microcephaly, Polymicrogyria, L... OMIM:614833
Combined Oxidative Phosphorylation Deficiency 54
Intrauterine growth retardation, Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sen... OMIM:619737
Caribbean Parkinsonism
Cerebral cortical atrophy, T2 hypointense basal ganglia, Frontal lobe dementia, Midline brain cal... ORPHA:97355
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Ventriculomegaly OMIM:616540
Congenital Toxoplasmosis
Hydrocephalus, Cognitive impairment, Cerebral calcification, Microcephaly, Ventriculomegaly, Intr... ORPHA:858
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ataxia, Ventriculomegaly, Dementia OMIM:206570
Spastic Paraplegia 75, Autosomal Recessive
Corpus callosum atrophy, Ventriculomegaly, Dysmetria, Cognitive impairment OMIM:616680
Brain Small Vessel Disease 2
Polymicrogyria, Schizencephaly, Ventriculomegaly, Growth delay, Porencephalic cyst OMIM:614483
Pettigrew Syndrome
Hydrocephalus, Cerebral calcification, Choreoathetosis, Gait ataxia, Ventriculomegaly, Dandy-Walk... OMIM:304340
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Ventriculomegaly OMIM:617669
Macdermot-Winter Syndrome
Microcephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:247990
Peho-Like Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly, Ventriculomegaly, Progressive m... OMIM:617507
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Microcephaly, Ventriculomegaly, Chorea, Ataxia OMIM:619150
Huntington Disease-Like 1
Abnormal basal ganglia morphology, Cerebral cortical atrophy, Dysmetria, Cognitive impairment, Me... ORPHA:157941
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Cerebral atrophy, Microcephaly, Chorea, Ventriculomegaly OMIM:617804
Nasu-Hakola Disease
Hydrocephalus, Cerebral cortical atrophy, Cerebral calcification, Memory impairment, Chorea, Fron... ORPHA:2770
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Cerebral atrophy, Microcephaly, Ventriculomegaly, Thin corpus callosum OMIM:619851
Catel-Manzke Syndrome
Failure to thrive, Ventriculomegaly, Short stature ORPHA:1388
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Ataxia, Progressive psychomotor deterioration, Short stature, Ventriculomegaly... ORPHA:251009
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, I... ORPHA:1495
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Frontal cortical atrophy, Fatigable weakness of skeletal muscles, Ventriculomegaly, Cognitive imp... ORPHA:206559
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Ataxia, Frontal cortical atrophy, Ventriculomegaly, Caudate atrophy ORPHA:137831
Spastic Paraplegia 47, Autosomal Recessive
Short stature, Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular white ma... OMIM:614066
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Cerebral calcification, Microcephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation OMIM:600546
Microhydranencephaly
Short stature, Microcephaly, Athetosis, Ventriculomegaly, Growth delay, Pachygyria, Hydranencepha... OMIM:605013
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Cerebral cortical atrophy, Dysmetria, Short stature, Ventriculomegaly, Paresthesia, Intra... ORPHA:48431
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Intrauterine growth retardation, Ataxia, Cerebral atrophy, Small for gest... ORPHA:79243
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Leukoencephalopathy, Small basal ganglia, Failure to thrive, Progressive neurologic deterioration... ORPHA:88639
Trisomy 5P
Obesity, Ventriculomegaly, Short stature ORPHA:1742
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Cerebral cortical atrophy, Ventriculomegaly ORPHA:1188
Mitochondrial Complex I Deficiency, Nuclear Type 33
Abnormal cerebral white matter morphology, Intrauterine growth retardation, Progressive neurologi... OMIM:618253
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Chorea, Athetosis, Ventriculomegaly, Intrauterine growth retardation OMIM:619922
Polymicrogyria, Bilateral Frontoparietal
Perisylvian polymicrogyria, Cerebral dysmyelination, Dysmetria, Truncal ataxia, Frontal polymicro... OMIM:606854
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Microcephaly, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, ... OMIM:225790
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... ORPHA:2185
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Short stature, Cerebral calcification, Cachexia, Microcephaly, Ventriculomegaly ORPHA:1933
Epilepsy, Early-Onset, Vitamin B6-Dependent
Secondary microcephaly, Ventriculomegaly OMIM:617290
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polymicrogyria, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618291
Cornelia De Lange Syndrome 2
Short stature, Cognitive impairment, Microcephaly, Ventriculomegaly, Postnatal growth retardation... OMIM:300590
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ataxia, Ventriculomegaly, Short stature OMIM:618273
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Progressive neurologic deterio... OMIM:252650
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morp... OMIM:618603
Skraban-Deardorff Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617616
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Chorea, Gait ataxia, Ventricul... ORPHA:500180
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:521390
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Abnormal basal ganglia morphology, Ataxia, Pallidal degeneration, Cognitive... ORPHA:25
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive cerebellar ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Progressive truncal ... ORPHA:363429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricu... ORPHA:370968
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Type II lissencephaly, Abnormal cerebral white matter morphology, Agyria, Lissence... OMIM:613153
Hemimegalencephaly
Polymicrogyria, Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Pachygyria, Hem... ORPHA:99802
Christianson Syndrome
Cerebral cortical atrophy, Cachexia, Microcephaly, Truncal ataxia, Gait ataxia, Ventriculomegaly,... ORPHA:85278
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Secondary mi... OMIM:617248
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ataxia, Mental deterioration, Abnormal cerebral white matter morphology, Abnormal ... OMIM:618476
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Failure to thrive, Hypoplasia of the corpus call... OMIM:614924
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Ventriculomegaly OMIM:618228
6Q25 Microdeletion Syndrome
Failure to thrive, Short stature, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum ORPHA:251056
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Short stature, Cortical dysplasia, Polymicrogyria, Hypoplasia of the corpus ca... OMIM:300354
Developmental And Epileptic Encephalopathy 70
Microcephaly, Cerebral cortical atrophy, Ventriculomegaly OMIM:618298
Pontocerebellar Hypoplasia, Type 10
Growth delay, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnorma... OMIM:615803
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Short stature, Cognitive impairment, Chorea, Punctate periventricular T2 hyperi... ORPHA:309246
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Vent... OMIM:613443
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Ventriculomegaly, Dysmetria OMIM:203740
Pontocerebellar Hypoplasia, Type 9
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Pro... OMIM:615809
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Cerebral atrophy, Cerebral calcification, Ventriculomegaly, Progressive microcepha... OMIM:610333
Congenital Muscular Dystrophy Without Intellectual Disability
Abnormal cerebral white matter morphology, Pachygyria, Microcephaly, Ventriculomegaly ORPHA:370980
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Progressive cerebellar ataxia, Microcephaly, Hypoplasia of the corpus ... ORPHA:485350
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive ... OMIM:615760
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Microcephaly, Diffuse cerebral atrophy, Ventriculomegaly, Growth delay OMIM:614946
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Microcephaly, Ventriculomegaly, Ataxia OMIM:619556
Baraitser-Winter Syndrome 2
Short stature, Lissencephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Agenesis of c... OMIM:614583
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Short stature, Microcephaly, Increased body mass index, Truncal obesit... OMIM:300957
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Dysplastic corpus callosum, Dilated fourth ventricle, Athetosis, Thick cerebral cortex, P... ORPHA:357058
Lissencephaly 6 With Microcephaly
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... OMIM:616212
Developmental And Epileptic Encephalopathy 99
Thick corpus callosum, Perisylvian polymicrogyria, Microcephaly, Ventriculomegaly, Thin corpus ca... OMIM:619606
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Microcephaly, Ventriculomegaly, Neuronal loss in the cerebral cortex, Pachyg... ORPHA:168486
Spastic Paraplegia 50, Autosomal Recessive
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:612936
Congenital Disorder Of Glycosylation, Type Iih
Microcephaly, Ventriculomegaly, Failure to thrive in infancy, Ataxia OMIM:611182
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Microcephaly, Cortical dysplasia, Ventriculomegaly ORPHA:101070
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Basal ganglia calcification, Small for gestational age, Microcephaly, Progress... OMIM:214150
Pierpont Syndrome
Primary microcephaly, Ventriculomegaly, Abnormal cortical gyration, Small for gestational age ORPHA:487825
Lissencephaly 8
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Type II lissencephaly, Agyria, V... OMIM:617255
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Microcephaly, Severe short stature, Ventriculomegaly ORPHA:2643
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Type II lissencephaly, Ventriculomegaly, Intrauterine growth retardation, Aplasia/... ORPHA:272
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:616900
17P13.3 Microduplication Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:217385
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Abnormal basal ganglia MRI signal intensity, Microcephaly, Nonprogressive cere... ORPHA:431361
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Ventriculomegaly OMIM:616531
Mitochondrial Complex I Deficiency, Nuclear Type 19
Secondary microcephaly, Ventriculomegaly, Athetosis OMIM:618241
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Mental deterioration, Truncal ataxia, Ventriculomegaly, Intrauterine growth retardation OMIM:619051
Rasmussen Subacute Encephalitis
Abnormal basal ganglia morphology, Cerebral cortical hemiatrophy, Cognitive impairment, Memory im... ORPHA:1929
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Choreo... ORPHA:2524
Developmental And Epileptic Encephalopathy 64
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Chorea, Ventriculomegaly OMIM:618004
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Dysplastic corpus callosum, Short stature, Microcephaly, Hypoplasia of the cor... OMIM:619179
Pyruvate Dehydrogenase Deficiency
Ataxia, Microcephaly, Choreoathetosis, Ventriculomegaly, Growth delay, Intrauterine growth retard... ORPHA:765
Baraitser-Winter Syndrome 1
Failure to thrive, Short stature, Microcephaly, Lissencephaly, Ventriculomegaly, Postnatal growth... OMIM:243310
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... ORPHA:488627
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Congenital Disorder Of Glycosylation, Type Ii
Decreased body weight, Short stature, Microcephaly, Focal T2 hyperintense basal ganglia lesion, V... OMIM:607906
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618577
Galloway-Mowat Syndrome 5
Microcephaly, Pachygyria, Ventriculomegaly, Ataxia OMIM:617731
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Hydrocephalus, Intrauterine growth retardation, Ataxia, Short stature, Periven... OMIM:619833
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618381
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Short stature, Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of co... OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly, Megalencephaly OMIM:602501
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Microcephaly, Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:457260
Cornelia De Lange Syndrome 5
Short stature, Microcephaly, Truncal obesity, Ventriculomegaly, Postnatal growth retardation OMIM:300882
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Failure to thrive, Ventriculomegaly, Megalencephaly, Cerebral white matter hypoplasia, Periventri... ORPHA:500533
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Failure to thrive, Ataxia, Decreased body weight, Cerebral cortical atrophy, Short stature, Micro... ORPHA:505237
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Microcephaly, Decreased body weight, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:300958
Myopathy, Congenital, Bailey-Bloch
Microcephaly, Ventriculomegaly, Short stature OMIM:255995
Hoyeraal-Hreidarsson Syndrome
Failure to thrive, Ataxia, Cerebral cortical atrophy, Short stature, Cerebral calcification, Micr... ORPHA:3322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Cortical dysplasia, Type II lissencephaly, Ventriculomegaly, Agenesis... OMIM:615287
Linear Verrucous Nevus Syndrome
Mental deterioration, Ventriculomegaly, Dandy-Walker malformation, Aplasia/Hypoplasia of the corp... ORPHA:2611
Developmental And Epileptic Encephalopathy 1
Growth delay, Microcephaly, Choreoathetosis, Ventriculomegaly OMIM:308350
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, Ventriculomegaly, Ag... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Microcephaly, Ventriculomegaly OMIM:613151
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Microcephaly, Intrauterine growth retardation, Ventric... ORPHA:2772
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:85277
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Cerebral cortical atrophy, Cerebral atrophy, Microcephaly, Corpus callosum atr... OMIM:619272
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Ventriculomegaly, Short stature OMIM:611555
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Hydrocephalus, Ataxia, Cognitive impairment, Mental deterioration, Microcephal... ORPHA:395
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Decreased body weight, Ventriculomegaly, Short stature OMIM:618342
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Athetosis, Diffuse cerebral atrophy, Ve... OMIM:617710
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology... ORPHA:466934
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Primary microcephaly, Ventriculomegaly ORPHA:2172
Alg8-Cdg
Leukoencephalopathy, Failure to thrive, Cerebral cortical atrophy, Ataxia, Small for gestational ... ORPHA:79325
Multiple Sulfatase Deficiency
Hydrocephalus, Ataxia, Cerebral atrophy, Short stature, Abnormal periventricular white matter mor... OMIM:272200
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Dysplastic corpus callosum, Secondary microcephaly, Short stature OMIM:619423
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, Ventriculomegaly OMIM:617268
Shashi-Pena Syndrome
Ventriculomegaly OMIM:617190
Methylcobalamin Deficiency Type Cble
Failure to thrive, Hydrocephalus, Microcephaly, Abnormal cerebral white matter morphology, Ventri... ORPHA:2169
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ataxia, Short stature, Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricular leuko... OMIM:618547
Pontocerebellar Hypoplasia, Type 2E
Failure to thrive, Cerebral atrophy, Short stature, Microcephaly, Hypoplasia of the corpus callos... OMIM:615851
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Intrauterine growth retardation... OMIM:619074
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature OMIM:109120
Developmental And Epileptic Encephalopathy 65
Microcephaly, Cerebral atrophy, Ventriculomegaly OMIM:618008
Recombinant Chromosome 8 Syndrome
Growth delay, Cerebral atrophy, Ventriculomegaly, Postnatal growth retardation, Secondary microce... OMIM:179613
Xq12-Q13.3 Duplication Syndrome
Short stature, Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpu... ORPHA:314389
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum, Failure to thrive OMIM:620001
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Growth delay, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238750
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618354
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Failure to thrive, Decreased body weight, Short stature, Microcephaly, Hypoplasia of the corpus c... OMIM:617452
Orofaciodigital Syndrome Xvii
Decreased body weight, Ventriculomegaly, Short stature OMIM:617926
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Fanconi Anemia, Complementation Group W
Microcephaly, Abnormal periventricular white matter morphology, Ventriculomegaly, Growth delay, I... OMIM:617784
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Leukoencephalopathy, Failure to thrive, Corpus callosum atrophy, Ventriculomegaly, Secondary micr... OMIM:608809
Even-Plus Syndrome
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum OMIM:616854
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly OMIM:615433
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Microcephaly, Ventriculomegaly, Short stature OMIM:619059
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cortical gyration, Hyp... OMIM:614576
Leigh Syndrome With Cardiomyopathy
Failure to thrive, Ataxia, Mental deterioration, Basal ganglia gliosis, Abnormal caudate nucleus ... ORPHA:70474
Cog8-Cdg
Progressive microcephaly, Failure to thrive, Ataxia, Ventriculomegaly ORPHA:95428
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cognitive impairment, Microcephaly, Ventriculomegaly, Growth delay, Intrauterine growth retardation ORPHA:2083
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thin corpus callosum, Cerebral atrophy, Ventriculomegaly OMIM:619797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Abnormal cerebral white matter morphology, Pachygyria, Microcephaly, Ventriculomegaly OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:613156
Goldberg-Shprintzen Megacolon Syndrome
Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Pachygyria ORPHA:66629
Brain Malformations With Or Without Urinary Tract Defects
Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum, Cognitive impai... OMIM:613735
Sandestig-Stefanova Syndrome
Small for gestational age, Hypoplasia of the corpus callosum, Primary microcephaly, Ventriculomeg... OMIM:618804
Asparagine Synthetase Deficiency
Failure to thrive, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Ventricul... OMIM:615574
Intellectual Developmental Disorder, Autosomal Dominant 21
Microcephaly, Ventriculomegaly, Short stature OMIM:615502
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:300215
Pyridoxine-Dependent Epilepsy
Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:3006
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal cerebral cortex morphology, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral hypoplasia, Failure to thrive, Short stature, Microcephaly, Abnormal cortical gyration, ... ORPHA:79351
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Microcephaly, Dysplastic corpus callosum OMIM:604273
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Dilated fourth ventricle, Athetosis, La... ORPHA:572798
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:228384
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618974
Microcephaly 27, Primary, Autosomal Dominant
Simplified gyral pattern, Primary microcephaly, Ventriculomegaly OMIM:619180
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Failure to thrive, Cerebral cortical atrophy, Small for gestational age, Cer... OMIM:620024
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus call... OMIM:603671
Short Stature, Microcephaly, And Endocrine Dysfunction
Disproportionate short-limb short stature, Ataxia, Dysmetria, Cognitive impairment, Short stature... OMIM:616541
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Gait ataxia, Intrauterine growth retardation, Ventriculomegaly OMIM:616355
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Ventr... OMIM:614222
16P13.2 Microdeletion Syndrome
Failure to thrive, Hydrocephalus, Short stature, Dilated third ventricle, Microcephaly, Hypoplasi... ORPHA:500055
49,Xxxyy Syndrome
Abnormal cerebral white matter morphology, Eunuchoid habitus, Ventriculomegaly ORPHA:261534
Amish Lethal Microcephaly
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Ventriculomegaly ORPHA:99742
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Chorea, Ventriculomegaly, Prog... OMIM:612389
Thanatophoric Dysplasia Type 2
Hydrocephalus, Short stature, Ventriculomegaly, Cognitive impairment ORPHA:93274
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Megalencephaly, Slender build, Ventriculomegaly OMIM:611087
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, Ventriculomegaly OMIM:601170
Desmosterolosis
Failure to thrive, Hydrocephalus, Severe short stature, Macrogyria, Microcephaly, Agenesis of cor... ORPHA:35107
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Primary microcephaly, Ventric... ORPHA:500144
Smith-Magenis Syndrome
Increased body weight, Impaired pain sensation, Ventriculomegaly, Short stature OMIM:182290
Gillespie Syndrome
Thin corpus callosum, Ataxia, Ventriculomegaly OMIM:206700
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Perisylvian polymicrogyria, Dysmetria, Microcephaly, Truncal ataxia, Hypoplasia of the corpus cal... OMIM:619121
Lissencephaly Due To Lis1 Mutation
Dysgyria, Anterior predominant thick cortex pachygyria, Cavum septum pellucidum, Hypoplasia of th... ORPHA:95232
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Microcephaly, Dilated fourth ventricle, Polymicrogyria, Type II lissencephaly, Ven... ORPHA:370959
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Hypoplasia of the corpus callosum, Short stature OMIM:609757
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Ataxia, Aqueductal stenosis, Cortical dysplasia, Polymicrogyria, Partial agenesis ... ORPHA:1136
Galloway-Mowat Syndrome 9
Cerebral cortical atrophy, Microcephaly, Choreoathetosis, Ventriculomegaly, Thin corpus callosum,... OMIM:619603
49,Xyyyy Syndrome
Azoospermia, Eunuchoid habitus, Ventriculomegaly, Abnormal cerebral white matter morphology ORPHA:99330
1Q44 Microdeletion Syndrome
Hydrocephalus, Short stature, Microcephaly, Ventriculomegaly, Growth delay, Agenesis of corpus ca... ORPHA:238769
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Ventriculomegaly OMIM:613730
20P12.3 Microdeletion Syndrome
Ventriculomegaly, Short stature ORPHA:261295
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Ataxia, Cerebral atrophy, Progressive psychomotor deterioration, Ventriculomegaly OMIM:230600
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum, Episodic ataxia ORPHA:420179
Kleefstra Syndrome Due To A Point Mutation
Failure to thrive, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Large for gest... ORPHA:261652
Pontocerebellar Hypoplasia, Type 16
Thin corpus callosum, Cerebral cortical atrophy, Ventriculomegaly OMIM:619527
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Truncal obesity, Abnormal corpus callosum morphology ORPHA:3224
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Growth delay, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Microc... ORPHA:96147
Smith-Magenis Syndrome
Short stature, Microcephaly, Corticospinal tract hypoplasia, Ventriculomegaly, Delayed puberty, O... ORPHA:819
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Hydrocephalus, Ventriculomegaly, Short stature OMIM:615630
48,Xxyy Syndrome
Azoospermia, Ataxia, Obesity, Ventriculomegaly ORPHA:10
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Ventriculomegaly OMIM:218000
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Hydrocephalus, Intrauterine growth retardation, Ventri... ORPHA:2655
Rahman Syndrome
Thin corpus callosum, Ventriculomegaly OMIM:617537
Mulibrey Nanism
Growth delay, Intrauterine growth retardation, Ventriculomegaly, Short stature OMIM:253250
Emanuel Syndrome
Failure to thrive, Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cerebral white matter ... ORPHA:96170
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Severe intrauterine growth retardation, Microcephaly, Hypoplasia of the corpus callosum, Ventricu... OMIM:241410
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Growth delay, Cerebral atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618659
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Ventriculomegaly, Short stature OMIM:618367
Cerebrofacioarticular Syndrome
Ataxia, Dysplastic corpus callosum, Short stature, Microcephaly, Hypoplasia of the corpus callosu... ORPHA:314679
Isolated Optic Nerve Hypoplasia/Aplasia
Growth delay, Ventriculomegaly ORPHA:137902
Walker-Warburg Syndrome
Hydrocephalus, Macrogyria, Microcephaly, Agenesis of corpus callosum, Polymicrogyria, Abnormal co... ORPHA:899
Curry-Jones Syndrome
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hemimegalencephaly, Agenesis of corpus callosum OMIM:601707
Kapur-Toriello Syndrome
Failure to thrive, Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:616449
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal periventricular white m... ORPHA:500159
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Hyperintens... ORPHA:88618
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cerebral atrophy, Ventriculomegaly OMIM:618164
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Hydrocephalus, Small for gestational age, Short stature, Microcephaly, Ventr... OMIM:257300
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventriculomegaly, Hypoplasia of th... ORPHA:494344
Dpm1-Cdg
Failure to thrive, Ataxia, Cerebral atrophy, Hypoplasia of the frontal lobes, Ventriculomegaly, S... ORPHA:79322
Developmental And Epileptic Encephalopathy 80
Failure to thrive, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white mat... OMIM:618580
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
X-Linked Lissencephaly With Abnormal Genitalia
Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:452
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Short stature ORPHA:557003
Galloway-Mowat Syndrome 3
Failure to thrive, Cerebral atrophy, Short stature, Microcephaly, Hypoplasia of the corpus callos... OMIM:617729
Snijders Blok-Campeau Syndrome
Ventriculomegaly OMIM:618205
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified gyral pattern, Colpocephaly OMIM:615219
Femoral-Facial Syndrome
Short stature, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:1988
Seckel Syndrome 9
Small for gestational age, Short stature, Microcephaly, Ventriculomegaly, Simplified gyral patter... OMIM:616777
Intellectual Developmental Disorder, Autosomal Recessive 41
Ventriculomegaly OMIM:615637
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Cognitive impairment, Mental deterioration, Aplasia/Hypoplasia of the... ORPHA:268940
Pseudo-Torch Syndrome 1
Failure to thrive, Cerebral calcification, Microcephaly, Polymicrogyria, Lissencephaly, Ventricul... OMIM:251290
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Failure to thrive, Hydrocephalus, Ventriculomegaly, Polymicrogyria ORPHA:60040
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventri... OMIM:301056
Dopa-Responsive Dystonia
Fatigable weakness, Ventriculomegaly ORPHA:255
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Polymicrogyria, Large for gestational age, Ventriculomegaly, Megalencephaly, Abnormal corpus call... ORPHA:457485
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ataxia, Cerebral atrophy, Hypoplasia of the corpus callosum, Choreoathetosis, Vent... OMIM:614969
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Ventriculomegaly OMIM:617788
Histidinuria-Renal Tubular Defect Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2158
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Large for gestational... ORPHA:544488
Joubert Syndrome 30
Ventriculomegaly, Dandy-Walker malformation OMIM:617622
Noonan Syndrome 12
Ventriculomegaly OMIM:618624
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Abnormal basal ganglia morphology, Rhizomelic leg shortening, Short stature, O... ORPHA:397715
Halperin-Birk Syndrome
Failure to thrive, Intrauterine growth retardation, Ventriculomegaly, Colpocephaly, Agenesis of c... OMIM:618651
De Sanctis-Cacchione Syndrome
Ataxia, Severe short stature, Cerebral atrophy, Basal ganglia calcification, Mental deterioration... OMIM:278800
Temtamy Syndrome
Agenesis of corpus callosum, Ventriculomegaly OMIM:218340
Chromosome 19P13.13 Deletion Syndrome
Microcephaly, Ventriculomegaly OMIM:613638
Pyruvate Carboxylase Deficiency
Failure to thrive, Growth delay, Ataxia, Basal ganglia gliosis, Cerebral white matter atrophy, Pe... ORPHA:3008
Desmosterolosis
Failure to thrive, Hydrocephalus, Microcephaly, Partial agenesis of the corpus callosum, Rhizomel... OMIM:602398
Chromosome 2P16.1-P15 Deletion Syndrome
Cerebral atrophy, Short stature, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callo... OMIM:612513
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Basal ganglia calcification, Short stature, Microcephaly, Ventriculomegaly OMIM:610651
Spastic Paraplegia 51, Autosomal Recessive
Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Short stature OMIM:613744
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Microcephaly, Intrauterine growth retardation, Ventriculomegaly, Small for gestational age OMIM:616897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Type II lissencephaly, Agyria, ... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebral calcification, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria,... OMIM:616538
19P13.12 Microdeletion Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Obesity, Intrauterine growth r... ORPHA:254346
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Cerebral atrophy, Chorea, Abnormal cerebral white matter morphology, Gait ataxia, Ventric... OMIM:618321
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cavum septum pellucidum, Gait ataxia, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:619383
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Ataxia, Cerebral white matter atrophy, Ventriculomegaly, Cerebral edema OMIM:617186
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Ventriculomega... OMIM:617193
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Cerebral cortical atrophy, Cognitive impairment, Cessation of head growth, Abn... OMIM:617527
Galloway-Mowat Syndrome 1
Ataxia, Cerebral atrophy, Small for gestational age, Short stature, Microcephaly, Hypoplasia of t... OMIM:251300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral hypoplasia, Severe short stature, Cerebral atrophy, Severe failure to thrive, Hypoplasia... ORPHA:468631
Leukodystrophy, Hypomyelinating, 12
Microcephaly, Secondary microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:616683
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Developmental And Epileptic Encephalopathy 84
Microcephaly, Ventriculomegaly, Chorea OMIM:618792
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Microcephaly, Choreoathetosis, Gait ataxia, Ventriculomegaly, Thin corpus callosum OMIM:619580
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebral cortical atrophy, Microcephaly, Ventriculomegaly, Thin corpus callosum, Agenesis of corp... OMIM:619720
Ogden Syndrome
Postnatal growth retardation, Cerebral atrophy, Ventriculomegaly ORPHA:276432
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:284169
Oculocerebrocutaneous Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Dandy-Walker malformation, Aplasia/Hypoplasia of... ORPHA:1647
Trichorhinophalangeal Syndrome Type 2
Growth delay, Microcephaly, Ventriculomegaly, Short stature ORPHA:502
Isolated Sedoheptulokinase Deficiency
Subcortical cerebral atrophy, Severe postnatal growth retardation, Ventriculomegaly, Short stature ORPHA:440713
3C Syndrome
Hydrocephalus, Short stature, Ventriculomegaly, Postnatal growth retardation, Dandy-Walker malfor... ORPHA:7
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Short stature, Parietal... ORPHA:98754
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Microcephaly, Primary microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:404473
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, A... OMIM:617260
Fanconi Anemia, Complementation Group B
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Intrauterine gr... OMIM:300514
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Short stature, Microcephaly, Ventriculomegaly, Postnatal ... ORPHA:2323
Wieacker-Wolff Syndrome, Female-Restricted
Microcephaly, Ventriculomegaly, Short stature OMIM:301041
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Short stature, Parietal... ORPHA:98793
Spondyloenchondrodysplasia
Short stature, Cerebral calcification, Chorea, Disproportionate short-trunk short stature, Abnorm... ORPHA:1855
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Short stature, Parietal... ORPHA:177904
Joubert Syndrome 9
Ventriculomegaly OMIM:612285
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Short stature, Parietal... ORPHA:177901
Kohlschutter-Tonz Syndrome-Like
Intrauterine growth retardation, Ataxia, Decreased body weight, Microcephaly, Ventriculomegaly, O... OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 64
Growth delay, Microcephaly, Ventriculomegaly OMIM:619188
Chromosome 18Q Deletion Syndrome
Short stature, Microcephaly, Chorea, Abnormal cerebral white matter morphology, Ventriculomegaly,... OMIM:601808
Rhombencephalosynapsis
Hydrocephalus, Septo-optic dysplasia, Ventriculomegaly, Ataxia ORPHA:59315
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Agyria, Polymicrogyria, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:370997
Luscan-Lumish Syndrome
Obesity, Ventriculomegaly, Short stature OMIM:616831
Curry-Jones Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:1553
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr... OMIM:619103
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Rhizomelia, Ventriculomegaly, Postnatal growth retardation, Dandy-Walker malfo... OMIM:302960
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Short stature, Ventriculomegaly, Absent septum pellucidum OMIM:618870
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Microcephaly, Ventriculomegaly OMIM:615182
Gaucher Disease, Perinatal Lethal
Decreased body weight, Microcephaly, Progressive neurologic deterioration, Ventriculomegaly, Intr... OMIM:608013
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261344
Takenouchi-Kosaki Syndrome
Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white mat... OMIM:616737
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Lissencephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum OMIM:617822
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Cognitive impairment, Short stature, Ventriculomegaly, Incr... ORPHA:398069
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Polymicrogyria OMIM:619775
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Microcephaly, Truncal obesity, Hypoplasia of the corpus callosum, Ventriculomegaly, Disproportion... ORPHA:2637
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Cerebral cortical atrophy, Short stature, Microcephaly, Truncal ataxia, Truncal obesity, ... OMIM:301072
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Short stature, Parietal... ORPHA:398073
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Ventriculomegaly OMIM:618707
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Choreoathetosis, Obesity, Ventriculomegaly ORPHA:261197
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Ventriculomegaly, Growth delay, Porencephalic cyst, Dandy-Walker malforma... ORPHA:2612
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Microcephaly, Ventriculomegaly OMIM:610965
Beck-Fahrner Syndrome
Microcephaly, Periventricular leukomalacia, Ventriculomegaly OMIM:618798
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Aqueductal stenosis, Ventriculomegaly OMIM:600907
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Porencephalic cyst, Intrauterine growth retardation, Ventriculomegaly OMIM:612394
Fg Syndrome Type 1
Slender build, Hydrocephalus, Short stature, Ventriculomegaly, Aplasia/Hypoplasia of the corpus c... ORPHA:93932
Peho Syndrome
Hydrocephalus, Cerebral cortical atrophy, Microcephaly, Ventriculomegaly, Porencephalic cyst ORPHA:2836
Tatton-Brown-Rahman Syndrome
Encephalomalacia, Ventriculomegaly OMIM:615879
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Intrauterine growth retardation, Ventriculomegaly, Cognitive impairment OMIM:610505
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Microcephaly, Cerebral atrophy, Ventriculomegaly, Dandy-Walker malformation OMIM:220500
Kleefstra Syndrome
Cerebral cortical atrophy, Short stature, Microcephaly, Ventriculomegaly, Obesity, Agenesis of co... ORPHA:261494
Malan Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:614753
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Martsolf Syndrome 1
Short stature, Microcephaly, Enlarged sylvian cistern, Ventriculomegaly, Periventricular white ma... OMIM:212720
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly OMIM:602200
16P13.11 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Ventriculomegaly, Short stature ORPHA:261236
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum, Short stature OMIM:308205
Neu-Laxova Syndrome
Cerebral calcification, Macrogyria, Microcephaly, Polymicrogyria, Abnormal cortical gyration, Lis... ORPHA:2671
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay OMIM:252160
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Ventric... ORPHA:228308
Cockayne Syndrome A
Failure to thrive, Ataxia, Normal pressure hydrocephalus, Cerebral atrophy, Basal ganglia calcifi... OMIM:216400
Hydranencephaly
Cerebral cortical atrophy, Abnormal corpus striatum morphology, Primary microcephaly, Ventriculom... ORPHA:2177
Plaa-Associated Neurodevelopmental Disorder
Leukoencephalopathy, Failure to thrive, Microcephaly, Abnormal cortical gyration, Hypoplasia of t... ORPHA:521426
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Ventriculomegaly, Polymicrogyria OMIM:617397
2P15P16.1 Microdeletion Syndrome
Failure to thrive, Microcephaly, Ventriculomegaly, Growth delay, Intrauterine growth retardation ORPHA:261349
Angiostrongyliasis
Paresthesia, Cerebral edema, Ventriculomegaly, Hyperesthesia ORPHA:74
Carey-Fineman-Ziter Syndrome
Short stature, Cerebral calcification, Microcephaly, Ventriculomegaly, Growth delay ORPHA:1358
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Abnormal cerebral white matter morphology, Ventriculomegaly, Polymicrogyria, Abnormal corpus call... OMIM:618343
Marshall-Smith Syndrome
Failure to thrive, Ventriculomegaly ORPHA:561
Sotos Syndrome
Cavum septum pellucidum, Increased body weight, Partial agenesis of the corpus callosum, Ventricu... OMIM:117550
Tatton-Brown-Rahman Syndrome
Obesity, Ventriculomegaly, Proportionate short stature ORPHA:404443
Distal Monosomy 3P
Short stature, Cognitive impairment, Microcephaly, Ventriculomegaly, Intrauterine growth retardation ORPHA:1620
Koolen-De Vries Syndrome
Failure to thrive, Small for gestational age, Short stature, Microcephaly, Hypoplasia of the corp... OMIM:610443
Orofaciodigital Syndrome Xvi
Ataxia, Ventriculomegaly OMIM:617563
D-Bifunctional Protein Deficiency
Cerebral hypoplasia, Cerebral dysmyelination, Failure to thrive, Cortical dysplasia, Corpus callo... OMIM:261515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Microcephaly, Type II lissencephaly, Ventriculomegaly, Pachygyria, Agenesis of cor... OMIM:613150
Prader-Willi Syndrome
Perisylvian polymicrogyria, Abdominal obesity, Failure to thrive, Short stature, Abnormal cerebra... ORPHA:739
Cerebellar-Facial-Dental Syndrome
Failure to thrive, Severe short stature, Microcephaly, Hypoplasia of the corpus callosum, Infancy... ORPHA:444072
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Ventriculomegaly ORPHA:96181
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Microcephaly, Ventriculomegaly OMIM:617903
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Microcephaly, Polymicrogyria, Ventriculomegaly, Intracerebral periventricula... OMIM:608836
Basilicata-Akhtar Syndrome
Ventriculomegaly OMIM:301032
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly, Lethal short-limbed short stature ORPHA:1860
Koolen-De Vries Syndrome
Microcephaly, Short stature, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:96169
Cerebrofaciothoracic Dysplasia
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Short stature ORPHA:1394
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Thick corpus callosum, Slender build, Cerebral cortical atrophy, Communicating hydrocephalus, Lar... ORPHA:457359
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, ... OMIM:619418
Chromosome 1Q41-Q42 Deletion Syndrome
Microcephaly, Ventriculomegaly, Short stature OMIM:612530
Acromelic Frontonasal Dysplasia
Choroid plexus cyst, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1827
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Postnatal growth retar... OMIM:300966
Crane-Heise Syndrome
Intrauterine growth retardation, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:1512
Hennekam-Beemer Syndrome
Failure to thrive, Microcephaly, Ventriculomegaly, Short stature ORPHA:2135
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Short stature, Microcephaly, Ventriculomegaly, Aplasia/Hypoplasia of t... ORPHA:192
Holoprosencephaly 14
Hydrocephalus, Aqueductal stenosis, Microcephaly, Partial agenesis of the corpus callosum, Ventri... OMIM:619895
Tenorio Syndrome
Cavum septum pellucidum, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly OMIM:616260
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Ventriculomegaly, Obesity, Impaired temperature sensation ORPHA:398079
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Type II lissencep... OMIM:236670
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Cerebral atrophy, Short stature, Microcephaly, Ventriculomegaly, Growth delay, Dif... OMIM:259720
Familial Multiple Lipomatosis
Cerebral calcification, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:199276
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ventriculomegaly, Short stature ORPHA:2031
Prader-Willi Syndrome
Abdominal obesity, Short stature, Ventriculomegaly, Delayed puberty, Obesity, Impaired pain sensa... OMIM:176270
Combined Oxidative Phosphorylation Deficiency 55
Thin corpus callosum, Microcephaly, Ventriculomegaly, Short stature OMIM:619743
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Thick corpus callosum, Hydrocephalus, Cerebral cortical atrophy, Gait ataxia, Ventriculomegaly, M... OMIM:617011
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Cerebral edema, Ventriculomegaly OMIM:619355
Neu-Laxova Syndrome 2
Microcephaly, Lissencephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:616038
Trichothiodystrophy
Cerebral dysmyelination, Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly... ORPHA:33364
Cerebellofaciodental Syndrome
Thin corpus callosum, Microcephaly, Ventriculomegaly, Short stature OMIM:616202
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Bohring-Opitz Syndrome
Severe failure to thrive, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventric... ORPHA:97297
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Ventriculomegaly, D... OMIM:300968
Pitt-Hopkins Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, Ventriculomegaly, Secondary microce... OMIM:610954
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Ventriculomegaly OMIM:304790
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Ventriculomegaly, Short stature OMIM:614701
Developmental And Epileptic Encephalopathy 100
Cerebral atrophy, Polymicrogyria, Chorea, Choreoathetosis, Gait ataxia, Ventriculomegaly, Thin co... OMIM:619777
Phelan-Mcdermid Syndrome
Microcephaly, Abnormal periventricular white matter morphology, Ventriculomegaly, Impaired pain s... OMIM:606232
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly OMIM:618314
Alg12-Cdg
Failure to thrive, Cavum septum pellucidum, Hypoplasia of the corpus callosum, Ventriculomegaly, ... ORPHA:79324
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Cerebral cortical atrophy, Small for gestational age, Microcephaly, Birth leng... ORPHA:464311
Slc39A8-Cdg
Disproportionate short-limb short stature, Cerebral cortical atrophy, Short stature, Ventriculome... ORPHA:468699
Zttk Syndrome
Failure to thrive, Intrauterine growth retardation, Dysplastic corpus callosum, Short stature, Hy... OMIM:617140
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:244450
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Ventriculomegaly OMIM:300486
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Growth delay, Microcephaly, Ventriculomegaly OMIM:614749
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:261250
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Absent septum pellucidum ORPHA:87
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Cerebral cortical atrophy, Small for gestational age, Short stature, Microceph... ORPHA:464306
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Cerebrooculonasal Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Postnatal growth retardation,... OMIM:605627
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay OMIM:252150
Neurocutaneous Melanocytosis
Ventriculomegaly, Dandy-Walker malformation ORPHA:2481
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Ventriculomegaly ORPHA:73230
7Q11.23 Microduplication Syndrome
Growth delay, Hydrocephalus, Dysmetria, Short stature, Ventriculomegaly, Simplified gyral pattern... ORPHA:96121
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Dysmetria, Ventriculomegaly, Memory impairment ORPHA:845
Marshall-Smith Syndrome
Failure to thrive, Hydrocephalus, Decreased body weight, Cerebral atrophy, Short stature, Macrogy... OMIM:602535
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Tbck-Related Intellectual Disability Syndrome
Cognitive impairment, Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular w... ORPHA:488632
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Abnormal cerebral white matter morphology, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:614501
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:618569
Glycine Encephalopathy With Normal Serum Glycine
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617301
Roifman-Chitayat Syndrome
Ventriculomegaly OMIM:613328
Carey-Fineman-Ziter Syndrome 1
Failure to thrive, Microcephaly, Growth delay, Ventriculomegaly OMIM:254940
Aymé-Gripp Syndrome
Hydrocephalus, Cerebral cortical atrophy, Short stature, Hypoplasia of the corpus callosum, Ventr... ORPHA:1272
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Cerebral atrophy, Small for gestational age, Chorea, Athetosis, Ventriculomega... ORPHA:404454
Cardiomyopathy, Familial Hypertrophic 27
Ventriculomegaly OMIM:618052
Fryns Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation ORPHA:2059
Sifrim-Hitz-Weiss Syndrome