Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
spectrin alpha, non-erythrocytic 1
Synonyms:
alpha-fodrin,  Spna-2,  2610027H02Rik,  Spna2,  alphaII-spectrin

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 Sptan1 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 Sptan1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:613477
Infantile Spasms Syndrome
ORPHA:3451

The table below shows human diseases predicted to be associated to Sptan1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vacterl Association With Hydrocephalus
Stillbirth, Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology OMIM:276950
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal s... OMIM:307000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Simplified gyral pattern, ... ORPHA:329228
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Ventriculomegaly, Aqueductal stenosis, Menin... ORPHA:1136
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dyspla... OMIM:615763
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Small cerebral cortex, Abnormal corti... ORPHA:2185
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Combined Oxidative Phosphorylation Deficiency 39
Arthrogryposis multiplex congenita, Pachygyria, Increased CSF lactate, Ventriculomegaly, Flexion ... OMIM:618397
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Skeletal muscle atrophy ORPHA:275543
Porencephaly
Ventriculomegaly, Porencephalic cyst ORPHA:2940
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Abnormal cerebral white matter morphology, Ventriculomeg... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... OMIM:618677
Bowen-Conradi Syndrome
Camptodactyly of finger, Ventriculomegaly, Severe intrauterine growth retardation, Short stature,... ORPHA:1270
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Ventriculomegaly, Aqueductal stenosis OMIM:600907
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Cerebral atrophy OMIM:612900
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria, Enlarged sylvian cistern OMIM:615752
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Cerebral calcification, Aqueductal stenosis ORPHA:3035
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern OMIM:617800
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617051
Galloway-Mowat Syndrome
Camptodactyly of finger, Pachygyria, Aqueductal stenosis, Short stature, Intrauterine growth reta... ORPHA:2065
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Arrhinencephaly, Aqueductal stenosis ORPHA:1788
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral white matter hypoplasia, Ce... ORPHA:3207
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Ventriculomegaly, Short stature, Intrauterine ... ORPHA:2515
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Cortical dysplasia, S... OMIM:608716
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Diffuse swelling of cerebral white matter, ... OMIM:613925
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Skeletal muscle atrophy, Simplified gyral pa... OMIM:613402
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ventriculomegaly, Aqueductal stenosis OMIM:600906
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Growth delay, Abnormal latera... ORPHA:488635
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Short stature, At... OMIM:617862
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Pachygyria, Agyria, Enlarged sylvian cistern ORPHA:1084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Flexion contracture, Muscular dystrophy, Hydrocephalus, ... OMIM:613154
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Pol... OMIM:611603
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Microcephaly, Ventriculomegaly, Cerebral calcification ORPHA:1980
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2732
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Masa Syndrome
Camptodactyly of finger, Ventriculomegaly, Agenesis of corpus callosum, Short stature ORPHA:2466
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Hypoplasia of the corpus callosum, Myopathy, Dilation of lateral ventr... OMIM:616816
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Cerebral calcification, Short stature, Microcephaly, Decreased response to grow... ORPHA:1261
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, P... OMIM:616486
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Ventriculomegaly, Left ventricular hypertrophy OMIM:115210
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus callosum, Type ... ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Muscular dystrophy, Type II lissencephaly, Hydrocephalus OMIM:614830
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Facial hypotonia OMIM:618383
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:171703
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum OMIM:303350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Abnormal cerebral white matter mo... OMIM:613153
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Polymicrogyria, Short stature, Microcephaly, Tetr... OMIM:154400
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal aortic valve morphology, Pulmonic stenosis, Abnormal ... OMIM:615280
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, Microcephaly, Cerebral ... OMIM:617977
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Flexion contracture, Hydranencephal... OMIM:225790
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Ventricular septal defect, Hy... ORPHA:79243
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Agenesis o... ORPHA:250972
Macdermot-Winter Syndrome
Intrauterine growth retardation, Microcephaly, Ventriculomegaly, Camptodactyly of finger OMIM:247990
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Abnormal cerebral white matter morphology, Ventriculomegaly OMIM:617557
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Alexander Disease
Hydrocephalus, Megalencephaly, Aqueductal stenosis, Facial palsy, Cerebral calcification, Agenesi... ORPHA:58
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Ventriculomegaly, Short stature, Simplified gyral pattern, Microceph... OMIM:617090
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Pachygyria, Proximal amyotrophy, Congenital muscular dystrophy, Ven... ORPHA:370980
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Congenital Toxoplasmosis
Ventriculomegaly, Cerebral calcification, Cardiomegaly, Intrauterine growth retardation, Microcep... ORPHA:858
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Frontal cortical atrophy, Proximal amyotrophy, Ventriculomegaly, Limb-girdle mu... ORPHA:206559
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria, Growth delay OMIM:617613
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebral ... ORPHA:939
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial... ORPHA:85179
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcification, Intraut... OMIM:610333
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:1568
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Limb hypertonia, Lower limb amyotrophy, Colpocephaly ORPHA:401815
Pettigrew Syndrome
Ventriculomegaly, Flexion contracture, Abnormality of the basal ganglia, Cerebral calcification, ... OMIM:304340
Slc35A2-Cdg
Camptodactyly of finger, Cerebral white matter atrophy, Abnormal heart morphology, Abnormal midbr... ORPHA:356961
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Short... ORPHA:1388
Charge Syndrome
Holoprosencephaly, Abnormal aortic valve morphology, Aqueductal stenosis, Postnatal growth retard... ORPHA:138
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Short stature, Rhabdomyosarcoma, Hydrocephalus OMIM:162200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Ventriculomegaly, Type II lissencephaly, Hydrocephalus ORPHA:324416
Pfeiffer Syndrome Type 3
Aqueductal stenosis ORPHA:93260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventricular septal defect, Ventriculomegaly, Megalencephaly, Polymicrogy... OMIM:602501
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Ankle flexion contracture, Cerebral white matter hypoplasia, D... ORPHA:284417
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... ORPHA:370968
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Short... ORPHA:1495
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion ... OMIM:618291
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal pons morphology, ... ORPHA:77299
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Short stature, Agenesis of corpus callosum, ... ORPHA:262767
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly, Cerebral calcification, Severe short stature, Decreased response to growth horm... OMIM:225755
Xylosidase Deficiency
Microcephaly, Ventriculomegaly OMIM:278900
Weiss-Kruszka Syndrome
Colpocephaly, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Lef... OMIM:618619
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasi... OMIM:617669
Fanconi Anemia, Complementation Group I
Atrial septal defect, Colpocephaly, Patent foramen ovale, Absent septum pellucidum, Ventricular s... OMIM:609053
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Ventriculomegaly, Flexion contracture of toe OMIM:619323
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Hypoplasia of the brainstem, Agenesis of corpus... ORPHA:370959
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Umbilical herni... OMIM:618354
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Ventriculomegaly, Hypoplastic left heart, Intrauterine growth retardat... ORPHA:2772
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Ventriculomegaly, Flexion contracture, Umbilical herni... OMIM:618651
Brain Small Vessel Disease 2
Porencephalic cyst, Ventriculomegaly, Growth delay, Polymicrogyria, Schizencephaly OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Ventriculomegaly, Muscular dystrophy, Microcephaly, Hypoplasia of ... OMIM:613151
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of l... OMIM:600721
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Progressive micr... OMIM:617507
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Ventriculomegaly, Cerebral atrophy, Umbilical hernia, Pulmonic stenosi... OMIM:618164
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Spastic Paraplegia 47, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... OMIM:614066
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnorma... ORPHA:565624
Developmental And Epileptic Encephalopathy 70
Cerebral cortical atrophy, Ventriculomegaly, Flexion contracture, Microcephaly OMIM:618298
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Hydrocephalus, Abnormal heart morphology, Camptodactyly of toe,... OMIM:175700
Cach Syndrome
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Growth delay, Cerebral atrophy, Flex... ORPHA:135
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Generalized amyotrophy OMIM:616540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Pachygyria, Proximal ... OMIM:606612
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Autosomal Recessive Primary Microcephaly
Pachygyria, Ventriculomegaly, Growth delay, Short stature, Hypoplasia of the frontal lobes, Micro... ORPHA:2512
Intellectual Developmental Disorder, X-Linked 103
Ventriculomegaly, Polymicrogyria OMIM:300982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Hypoplasia of the corpus callosum, Ventriculomegaly, Congenital muscular dystrophy,... OMIM:613156
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Subependymal cysts, Neonat... OMIM:610015
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Hydranencephaly, Multiple joint contra... OMIM:605013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Pontocerebellar Hypoplasia, Type 9
Macroglossia, Facial hypotonia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cor... OMIM:615809
Epilepsy, Early-Onset, Vitamin B6-Dependent
Secondary microcephaly, Ventriculomegaly OMIM:617290
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly... ORPHA:3078
Histidinuria-Renal Tubular Defect Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2158
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Sh... OMIM:218350
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Hol... ORPHA:1908
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... ORPHA:208447
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Ventriculomegaly, ... ORPHA:572798
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Hypertrophic cardiomyopathy OMIM:618228
Hemimegalencephaly
Pachygyria, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral white matter on MRI, Foc... ORPHA:99802
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:617616
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:616034
Cornelia De Lange Syndrome 2
Ventriculomegaly, Postnatal growth retardation, Short stature, Intrauterine growth retardation, M... OMIM:300590
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Growth delay, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, M... OMIM:614946
Lissencephaly 8
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria,... OMIM:617255
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Ventriculomegaly, Cortical dysplasia, Upper limb hypertonia ORPHA:319199
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Hypoplasia of the brainstem, Type II lissencephaly, Normal pr... ORPHA:300570
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Microcephaly, Age... OMIM:312170
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebral dysmyelination, Cortical dysplasia, Micro... ORPHA:101070
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Skeletal muscle atrophy ORPHA:1188
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Ventriculomegaly, Cerebral cortical atrophy, Short... ORPHA:48431
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Gm1-Gangliosidosis, Type Ii
Ventriculomegaly, Cerebral atrophy OMIM:230600
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
3-Methylglutaconic Aciduria, Type Viii
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Growth delay, Increased CS... OMIM:617248
Shashi-Pena Syndrome
Ventriculomegaly, Atrial septal defect OMIM:617190
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the corpus ca... ORPHA:255138
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Limb hypertonia, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus... OMIM:617296
Hsd10 Disease
Ventriculomegaly, Postnatal growth retardation, Frontotemporal cerebral atrophy, Microcephaly, Fo... ORPHA:391417
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Colpocephaly, Hydrocephalus, Absent septum pellucidum, Ventricular septal d... OMIM:309801
Mehmo Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Delayed puberty, Birth length less than 3rd ... OMIM:300148
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Hypoplasia of the corpus callosum, Joint contracture of the 5th finger, Um... OMIM:618914
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ventriculomegaly, Caudate atrophy, Frontal cortical atrophy, Temporal cortical atrophy ORPHA:137831
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Cerebral atrophy, Camptodactyl... OMIM:179613
Mental Retardation, Autosomal Dominant 20
Ventriculomegaly, Abnormal cerebral white matter morphology, Abnormal periventricular white matte... OMIM:613443
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Congenital muscular dystrophy, Ventriculomegaly, Cerebral atrophy, ... OMIM:601170
Thanatophoric Dysplasia
Atrial septal defect, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Dispropor... ORPHA:2655
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Rhizomelic arm shortening, Dandy-Walk... ORPHA:397715
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Microcephaly, Ventriculomegaly, Severe short stature ORPHA:2643
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Abnormal cerebral white matter morphology, Ventriculomegaly OMIM:618253
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Dandy-Walker malformation, Abnorm... ORPHA:163961
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Limb hypertonia, Microcephaly, Agenesis of corpus callosum, Lisse... ORPHA:99742
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617804
Neuronal Intranuclear Inclusion Disease
Increased CSF protein, Ventriculomegaly, Leukoencephalopathy, CSF pleocytosis OMIM:603472
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Microcephaly, Dandy-Walker malformati... OMIM:618606
Caribbean Parkinsonism
EMG: myopathic abnormalities, Ventriculomegaly, Midline brain calcifications, T2 hypointense basa... ORPHA:97355
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Abnormal heart mor... ORPHA:500159
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Ventriculomegaly, Frontal polymicrogyria, Cerebral dysmyelination, P... OMIM:606854
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Hydrocephalus ORPHA:2770
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Atrial septal defect, Ventricular septal defect OMIM:618974
Myopathy, Congenital, Bailey-Bloch
Ventriculomegaly, Flexion contracture, Short stature, Skeletal muscle atrophy, Microcephaly OMIM:255995
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Facial hypotonia, Decreased muscle mass, Ventriculomegaly, Megalencephaly, ... ORPHA:500533
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Facial hypotonia OMIM:618381
Pontocerebellar Hypoplasia, Type 10
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, G... OMIM:615803
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Microcephaly, Cerebral hypopl... ORPHA:168486
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Growth delay, Short stature, Microcephaly, Abnormal cardiac sept... ORPHA:238769
Thanatophoric Dysplasia Type 2
Atrial septal defect, Holoprosencephaly, Ventriculomegaly, Short stature, Hydrocephalus ORPHA:93274
Developmental And Epileptic Encephalopathy 1
Microcephaly, Ventriculomegaly, Growth delay OMIM:308350
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Congenital muscular torticollis, Facial hypotonia, Hydrocephalus OMIM:616355
Kohlschutter-Tonz Syndrome
Ventriculomegaly, Cerebral atrophy OMIM:226750
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th toe, Atrial... ORPHA:457279
Mulibrey Nanism
Myocardial fibrosis, Ventriculomegaly, Growth delay, Cardiomegaly, Short stature, Intrauterine gr... OMIM:253250
Spastic Paraplegia 50, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly OMIM:612936
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Spinal dysraphism, Microcep... ORPHA:1926
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Ventriculomegaly, Abnormal... ORPHA:1120
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Simplified gyral pattern, ... OMIM:615760
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplasia of the brainstem, Dilation of lat... ORPHA:420179
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:217385
Mental Retardation, Autosomal Dominant 36
Facial hypotonia, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:616362
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Increased CSF lactate, Ventriculomegaly, Cardiomegaly, Intrauterine grow... OMIM:619051
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Absent extraocular muscles, Short stature, Agenesis of corpus ca... OMIM:109120
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Dilated cardiomyo... ORPHA:261250
Carey-Fineman-Ziter Syndrome
Hypoplasia of the brainstem, Ventriculomegaly, Flexion contracture, Growth delay, Pectoralis hypo... OMIM:254940
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Khan-Khan-Katsanis Syndrome
Patent foramen ovale, Abnormal heart morphology, Flexion contracture, Short stature, Intrauterine... OMIM:618460
Cog5-Cdg
Camptodactyly of finger, Cerebral white matter atrophy, Atrophy/Degeneration affecting the brains... ORPHA:263487
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Limb hypertonia,... OMIM:616212
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventricular septal defect, Alobar holop... OMIM:301043
Mental Retardation, Autosomal Dominant 21
Microcephaly, Ventriculomegaly, Atrial septal defect, Short stature OMIM:615502
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomeg... OMIM:614576
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly, Cerebral calcification, Leukoencephalopathy, Microcephaly, Focal white matter l... OMIM:612951
Trisomy 5P
Ventriculomegaly, Short stature ORPHA:1742
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Ventriculomegaly, Skeletal muscle atrophy, Microcephaly, Abnor... OMIM:618603
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Noonan Syndrome 12
Ventricular septal defect, Ventriculomegaly, Tetralogy of Fallot, Decreased response to growth ho... OMIM:618624
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ventr... OMIM:300354
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Microcephaly, Ventriculomegaly OMIM:619150
Baraitser-Winter Syndrome 2
Pachygyria, Ventriculomegaly, Short stature, Secondary microcephaly, Agenesis of corpus callosum,... OMIM:614583
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly, Skeletal muscle atrophy OMIM:618251
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Hypoplasia of the brainstem, Ventriculomegaly, Short stature OMIM:618273
20P12.3 Microdeletion Syndrome
Ventriculomegaly, Atrial septal defect, Short stature ORPHA:261295
Narp Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Short stature, Abnormal basal ganglia MRI signal int... ORPHA:644
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Growth delay, Dilation of lateral ventricles ORPHA:85290
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Abnormal cerebral white matter morphology, Ventriculomegaly, Lower l... ORPHA:2169
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Cortical dysplasia ORPHA:457260
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Camptodactyly, Perimembranous ventricular se... OMIM:618804
Christianson Syndrome
Arthrogryposis multiplex congenita, Decreased muscle mass, Aplasia/Hypoplasia of the corpus callo... ORPHA:85278
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Viral infection... ORPHA:2524
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Ventriculomegaly, Megalencephaly, Facial hypotonia, Atrial septal defect OMIM:611087
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Cerebral cor... ORPHA:488627
3C Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal mi... ORPHA:7
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Disproportionate short-trunk ... ORPHA:1855
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Dysplastic pulmonary valve OMIM:300958
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus, Short stature, Ventricular septal defect OMIM:615630
Juvenile Huntington Disease
Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology, Ventriculomegaly ORPHA:248111
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small basal ganglia, Leukoencephalop... ORPHA:88639
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Distal Monosomy 10Q
Cavum septum pellucidum, Atrial septal defect, Scapular winging, Postnatal growth retardation, Sp... ORPHA:96148
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Primary microcephaly, Ventriculomegaly ORPHA:2172
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Ventriculomegaly, Cerebral atrophy OMIM:617268
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Fanconi Anemia, Complementation Group W
Abnormal periventricular white matter morphology, Ventriculomegaly, Growth delay, Intrauterine gr... OMIM:617784
Emanuel Syndrome
Atrial septal defect, Agenesis of corpus callosum, Truncus arteriosus, Ventricular septal defect,... ORPHA:96170
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Flexion contracture, Increased CSF protein, Skeletal muscle atrophy, Facial dip... OMIM:218000
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Cerebral calcification, Short stature, Skeletal muscle atrophy, Microcephaly ORPHA:1933
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:521390
Pierpont Syndrome
Ventriculomegaly, Primary microcephaly, Abnormal cortical gyration ORPHA:487825
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Hypoplasia of the ... ORPHA:284169
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Macroglossia, Abnormal periventricular white matter morphology, Extra-axial cerebrospinal fluid a... OMIM:616900
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Cerebral atrophy, Limb hypertonia, Skeletal muscle atrophy, Intrauterine growth... OMIM:617710
Basel-Vanagaite-Smirin-Yosef Syndrome
Abnormal cardiac septum morphology, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcep... OMIM:616449
6Q25 Microdeletion Syndrome
Camptodactyly of finger, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum ORPHA:251056
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Intrauterine growth retardation, Cavum septum pellucidum, Ventriculomegaly, Partial agenesis of t... OMIM:619074
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb... OMIM:618476
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse white matter abnormalities, Abnormal periventricular white matter morphology, Hypoplasia ... ORPHA:466934
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly, Corpus callosum atrophy OMIM:616680
Developmental And Epileptic Encephalopathy 65
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:618008
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Int... OMIM:300514
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Limb hypertonia, Hyperinte... ORPHA:500180
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Ventriculomegaly, Agenesis of corpus callosum, Growth delay ORPHA:238750
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of the corpus... OMIM:617822
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... OMIM:612389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Muscular dystrophy, Polymicrogyria, Agyria, ... OMIM:616538
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Microcephaly, Ventriculomegaly, Increased CSF lactate, Short stature OMIM:619059
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Extra-axial cerebrospinal fluid accumulation, Hypoplasia of the corpus callosum, Vent... OMIM:619179
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Congenital diaphragmatic herni... OMIM:616777
Rasmussen Subacute Encephalitis
Ventriculomegaly, Subcortical cerebral atrophy, Increased CSF protein, Abnormality of the basal g... ORPHA:1929
Baraitser-Winter Syndrome 1
Pachygyria, Ventriculomegaly, Postnatal growth retardation, Aortic valve stenosis, Short stature,... OMIM:243310
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Ventriculomegaly, Short stature OMIM:611555
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Muscular dys... ORPHA:899
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy ORPHA:85277
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventricu... ORPHA:494344
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:219730
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Agenesis of corpus callosum, Absent septum pelluci... ORPHA:35107
Developmental And Epileptic Encephalopathy 64
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Limb hypertonia, ... OMIM:618004
Beck-Fahrner Syndrome
Facial hypotonia, Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventri... OMIM:618798
Microcephaly 27, Primary, Autosomal Dominant
Primary microcephaly, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Simplified ... OMIM:619180
Galloway-Mowat Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria OMIM:617731
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, C... ORPHA:485350
Pyruvate Dehydrogenase Deficiency
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Intrauterine growth re... ORPHA:765
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Growth delay,... OMIM:619272
Pyridoxine-Dependent Epilepsy
Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:3006
Peho Syndrome
Porencephalic cyst, Arthrogryposis multiplex congenita, Ventriculomegaly, Flexion contracture, Ce... ORPHA:2836
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Absent septum pellucidum, Ventriculomegaly, Growth delay, Subcortical cerebral atro... ORPHA:96147
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Ventriculomegaly, Diaphragmatic eventration, Cortical dysplasi... OMIM:615574
Spastic Paraplegia 51, Autosomal Recessive
Decreased muscle mass, Facial hypotonia, Ventriculomegaly, Flexion contracture, Cerebral cortical... OMIM:613744
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Ventriculomegaly OMIM:613730
Xfe Progeroid Syndrome
Microcephaly, Ventriculomegaly, Severe short stature OMIM:610965
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Ventric... ORPHA:2177
Kleefstra Syndrome Due To A Point Mutation
Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral... ORPHA:261652
Orofaciodigital Syndrome Xvii
Ventriculomegaly, Tetralogy of Fallot, Short stature OMIM:617926
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Ventricular septal defect, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum ORPHA:452
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Short stature, Hydrocephalus, Decreased resp... OMIM:609757
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomeg... OMIM:617452
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Abnormal caudate nucleus morphology, Pallidal degeneration, Abnormal... ORPHA:25
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Hypoplasia of the corpus callosum, Ventriculomegaly, Unilateral facial palsy, Limb hypertonia, Pe... OMIM:618547
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Ventr... ORPHA:505237
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Frontal cortical atrophy ORPHA:228384
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Vent... ORPHA:261236
Kohlschutter-Tonz Syndrome-Like
Ventricular septal defect, Ventriculomegaly, Intrauterine growth retardation, Secondary microceph... OMIM:619229
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Ventriculomegaly, Growth delay, Intrauterine growth retardation, Microce... ORPHA:2083
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoglycosylation of alpha-dystroglycan, Pol... ORPHA:370997
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Increased CSF lactate, Ventriculomegaly, Cerebral cortical atrophy, Prima... ORPHA:500144
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpu... ORPHA:464738
Goldberg-Shprintzen Megacolon Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Short stature, Microcephaly ORPHA:66629
Warburg Micro Syndrome 3
Decreased muscle mass, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, ... OMIM:614222
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Hypoplasia of the brainstem, Abnormal heart morphology, Ventriculomegaly, Abnormal cerebral white... OMIM:618343
Mitochondrial Complex I Deficiency, Nuclear Type 19
Secondary microcephaly, Ventriculomegaly, Hypertrophic cardiomyopathy OMIM:618241
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Ventriculomegaly, Flexion contracture, Cardiomegaly, Intrauterine grow... OMIM:616897
Neu-Laxova Syndrome
Spina bifida, Arthrogryposis multiplex congenita, Pachygyria, Absent septum pellucidum, Ventricul... ORPHA:2671
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum... OMIM:614643
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Intracerebral periventricular calcific... ORPHA:228308
Cornelia De Lange Syndrome 5
Microcephaly, Ventriculomegaly, Short stature, Postnatal growth retardation OMIM:300882
Neurodevelopmental Disorder With Involuntary Movements
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Microcephaly OMIM:617493
Joubert Syndrome 30
Ventriculomegaly, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:617622
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypopituitarism, Agenes... OMIM:603671
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Increased C... OMIM:272200
Xq12-Q13.3 Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Generalized amyotrophy, Short stature, Micro... ORPHA:314389
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Postnatal growth retardat... OMIM:304050
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Macroglossia, Pachygyria, Type II lissencephaly, Agenesis of corpus ... OMIM:613150
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Congenital diaphragm... ORPHA:1647
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal ... ORPHA:99776
Linear Verrucous Nevus Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation ORPHA:2611
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Trisomy 1Q
Camptodactyly of finger, Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Congenital d... ORPHA:261344
Lissencephaly, X-Linked, 2
Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal periventricular white matter morphology, Cortical dysplasia, Cerebral hypoplasia, Hypopl... ORPHA:468631
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Microcephaly, Abnormal cerebral white matter morphology, Short stature OMIM:300957
Smith-Magenis Syndrome
Ventriculomegaly, Short stature, Abnormal heart morphology OMIM:182290
Acromelic Frontonasal Dysplasia
Choroid plexus cyst, Ventriculomegaly, Hypopituitarism, Anterior pituitary hypoplasia, Meningocel... ORPHA:1827
Mosaic Trisomy 1
Camptodactyly of finger, Ventricular septal defect, Polymicrogyria, Congenital diaphragmatic hern... ORPHA:1692
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Ventriculom... ORPHA:244
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Macroglossia, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter... OMIM:614501
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly, Short stature, Growth delay ORPHA:251009
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Ventriculomegaly, Muscular dystrophy, Growth delay, Hyperinten... ORPHA:88618
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contr... ORPHA:500055
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Ventriculomegaly, Multiple joint contractures, Short stature, Growth delay ORPHA:363429
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Congenital diaphragmatic hern... ORPHA:63260
Pontocerebellar Hypoplasia, Type 2E
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Secondary microcephaly, Fl... OMIM:615851
Sotos Syndrome 1
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Parti... OMIM:117550
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Hypoplasia of the corpus callosum, Ventriculomegaly, Secundum atrial septal defe... OMIM:619121
Neurocutaneous Melanocytosis
Meningocele, Ventriculomegaly, Dandy-Walker malformation ORPHA:2481
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Scapular winging, Ventricular septal defect, Absent septum pellucidum, Vent... OMIM:618870
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplastic left heart, Mitral stenosis, Sho... OMIM:617260
Pseudo-Torch Syndrome 1
Pachygyria, Ventriculomegaly, Increased CSF protein, Polymicrogyria, Cerebral calcification, Micr... OMIM:251290
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Ventricular septal defect, Hypoplasia of the corpus callosum,... OMIM:301056
19P13.12 Microdeletion Syndrome
Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Hypoplasia o... ORPHA:254346
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Congenital Disorder Of Glycosylation, Type Iih
Microcephaly, Ventriculomegaly OMIM:611182
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Facial hypotonia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Growth d... OMIM:618659
Chromosome 2P16.1-P15 Deletion Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Camptodactyly,... OMIM:612513
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Ventriculomegaly, Camptodactyly, Dysplastic corp... ORPHA:363444
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Ventriculomegaly, Atrial septal defect, Hydrocephalus ORPHA:1860
Desmosterolosis
Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of the corpus callosum, Rhizomelia, Ventri... OMIM:602398
Wieacker-Wolff Syndrome, Female-Restricted
Ventriculomegaly, Flexion contracture, Achilles tendon contracture, Facial palsy, Hip contracture... OMIM:301041
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Severe intrauterine growth retardation, Post... OMIM:241410
Ogden Syndrome
Ventricular septal defect, Ventriculomegaly, Cerebral atrophy, Postnatal growth retardation, Tort... ORPHA:276432
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Increased muscle lipid content, Ventriculomegaly, Intracerebral periventricu... OMIM:608836
Familial Multiple Lipomatosis
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral calcification, Abnormal tricuspid v... ORPHA:199276
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus ORPHA:60040
Weaver Syndrome
Diastasis recti, Absent septum pellucidum, Camptodactyly, Umbilical hernia, Joint contracture of ... OMIM:277590
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Ventriculomegaly, Cerebral edema, Left ventricular hypertrophy OMIM:619355
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Ventriculomegaly, Short stature ORPHA:2031
Huntington Disease-Like 1
Ventriculomegaly, Cerebral cortical atrophy, Abnormality of the basal ganglia ORPHA:157941
Joubert Syndrome 9
Ventriculomegaly, Molar tooth sign on MRI OMIM:612285
49,Xxxyy Syndrome
Ventriculomegaly, Abnormal cerebral white matter morphology, Increased circulating gonadotropin l... ORPHA:261534
Tenorio Syndrome
Cavum septum pellucidum, Macroglossia, Ventriculomegaly, Cerebral cortical atrophy, Hydrocephalus OMIM:616260
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Ventriculomegaly, Short stature OMIM:618367
Iniencephaly
Spina bifida, Arthrogryposis multiplex congenita, Holoprosencephaly, Rhizomelia, Spinal dysraphis... ORPHA:63259
Chromosome 19P13.13 Deletion Syndrome
Microcephaly, Ventriculomegaly OMIM:613638
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Abnormal cerebral white matter... OMIM:601808
Prader-Willi Syndrome Due To Translocation
Patent foramen ovale, Abnormal heart morphology, Anterior pituitary hypoplasia, Cerebral cortical... ORPHA:177907
Snijders Blok-Campeau Syndrome
Ventriculomegaly OMIM:618205
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Postnatal gr... OMIM:257300
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Umbilical her... ORPHA:79351
Isolated Optic Nerve Hypoplasia/Aplasia
Ventriculomegaly, Growth delay ORPHA:137902
Curry-Jones Syndrome
Ventriculomegaly, Megalencephaly, Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum OMIM:601707
Hoyeraal-Hreidarsson Syndrome
Ventriculomegaly, Cerebral cortical atrophy, Cerebral calcification, Short stature, Intrauterine ... ORPHA:3322
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Secondary microcephaly, Ventriculomegaly, Corpus callosum atrophy, Leukoencephalopathy OMIM:608809
Cerebrofacioarticular Syndrome
Abnormal heart morphology, Hypoplasia of the corpus callosum, Ventriculomegaly, Camptodactyly, Dy... ORPHA:314679
Leukodystrophy, Hypomyelinating, 12
Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, Secondary microcephaly,... OMIM:616683
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Mitral valve prolapse, Ventricular septal defect, Abnormal midbrain ... ORPHA:444072
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cavum septum pellucidum, Atrial septal defect, Extra-axial cerebrospinal fluid accumulation, Hypo... OMIM:619383
Femoral-Facial Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Short stature ORPHA:1988
Fg Syndrome Type 1
Progressive flexion contractures, Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum... ORPHA:93932
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the left and right thalami, Septo-optic dysplasia, Hydrocephalus ORPHA:59315
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Diastasis recti, Ventriculomegaly, Megalencephaly, Abnormal corpus callosum morphology, Polymicro... ORPHA:457485
Dopa-Responsive Dystonia
Abnormal CSF biopterin level, Ventriculomegaly, Decreased CSF homovanillic acid ORPHA:255
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Ventriculomegaly, Short stature, Simplified gyral pattern, Intrauterine g... OMIM:616541
Carey-Fineman-Ziter Syndrome
Ventriculomegaly, Growth delay, Aplasia of the pectoralis major muscle, Facial palsy, Cerebral ca... ORPHA:1358
Pseudo-Torch Syndrome 2
Ventriculomegaly, Microcephaly, Polymicrogyria, Cerebral calcification OMIM:617397
Galloway-Mowat Syndrome 3
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Camptodactyly,... OMIM:617729
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent foramen ovale, Ventriculomegaly, Rhabdomyolysis, Concentric hypert... OMIM:610505
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo... OMIM:618820
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Abnormal cerebral white matte... ORPHA:395
Sanjad-Sakati Syndrome
Ventriculomegaly, Postnatal growth retardation, Severe intrauterine growth retardation, Short sta... ORPHA:2323
Distal Monosomy 3P
Atrioventricular canal defect, Ventriculomegaly, Umbilical hernia, Short stature, Intrauterine gr... ORPHA:1620
Cog8-Cdg
Atrophy/Degeneration affecting the brainstem, Ventriculomegaly, Progressive microcephaly, Skeleta... ORPHA:95428
Isolated Sedoheptulokinase Deficiency
Diastasis recti, Arthrogryposis multiplex congenita, Ventriculomegaly, Flexion contracture, Subco... ORPHA:440713
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Ventriculomeg... ORPHA:1052
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Lower limb hypertonia, Cerebral white matter hypoplasia, Paten... ORPHA:477993
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth d... OMIM:617193
Hyperphosphatasia With Mental Retardation Syndrome 2
Microcephaly, Ventriculomegaly, Atrial septal defect, Growth delay OMIM:614749
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal corpus callosum morphology, Cerebral cortical atrophy, Ventriculomegaly ORPHA:3224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Hypo... OMIM:236670
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Abnormal basal ganglia MRI sig... ORPHA:431361
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Cerebral atrophy, Microcephaly... OMIM:220500
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
49,Xyyyy Syndrome
Ventriculomegaly, Abnormal cerebral white matter morphology, Increased circulating gonadotropin l... ORPHA:99330
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormal tricuspid valve morphology, Abnormal mitral v... ORPHA:192
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Growth delay, Flexion... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Growth delay, Flexion... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Growth delay, Flexion... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Growth delay, Flexion... ORPHA:93924
Apert Syndrome
Hydrocephalus, Absent septum pellucidum, Ventricular septal defect, Ventriculomegaly, Megalenceph... OMIM:101200
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Disproportionate short stature, Hypoplasia of the corpus callosum, Ventricu... ORPHA:2637
Takenouchi-Kosaki Syndrome
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Abnormal cer... OMIM:616737
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventriculomegaly, Abnormal aortic valve morpholo... ORPHA:261197
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Short stature, Tetralogy of Fa... OMIM:617159
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Microcephaly, Ventriculomegaly OMIM:615182
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Mitral valve prolapse, Ventriculomegaly, Abnormal aortic valve morpholog... ORPHA:2462
Koolen-De Vries Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Short stature, Bicuspid aortic valve... ORPHA:96169
Trichorhinophalangeal Syndrome Type 2
Microcephaly, Ventriculomegaly, Short stature, Growth delay ORPHA:502
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Hypoplasia of the corpus callosum, Ventric... ORPHA:97297
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum OMIM:613735
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Atrial septal defect, Umbilical hernia, Proportionate short stature ORPHA:404443
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Ventriculomegaly, Cardiomegaly, Intrauterine growth retardati... OMIM:608013
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Facial diplegia, Aplasia/Hypoplasia of the cerebral white mat... ORPHA:268940
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Primary microcephaly ORPHA:404473
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypoplasia of the corpus callosum, Cerebral atrophy, Intrauterine growth re... OMIM:300896
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect,... ORPHA:353277
Monosomy 9Q22.3
Cardiac fibroma, Ventriculomegaly, Umbilical hernia, Calcification of falx cerebri, Rhabdomyosarc... ORPHA:77301
Congenital Enterovirus Infection
Ventriculomegaly, Pericardial effusion, CSF lymphocytic pleiocytosis, Myocarditis, Cardiomyopathy ORPHA:292
Aicardi-Goutières Syndrome
Porencephalic cyst, Increased CSF interferon alpha, Hypoplasia of the corpus callosum, Arrhinence... ORPHA:51
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion ... OMIM:617301
Intellectual Developmental Disorder, Autosomal Dominant 64
Microcephaly, Ventriculomegaly, Growth delay OMIM:619188
Galloway-Mowat Syndrome 1
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:251300
Aymé-Gripp Syndrome
Pericarditis, Hypoplasia of the corpus callosum, Ventriculomegaly, Pericardial effusion, Camptoda... ORPHA:1272
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Pachygyria, Dilation of lateral ventricles, Ventricular septal defect OMIM:263520
Developmental And Epileptic Encephalopathy 80
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, G... OMIM:618580
Kleefstra Syndrome
Macroglossia, Ventricular septal defect, Ventriculomegaly, Cerebral cortical atrophy, Short statu... ORPHA:261494
Crane-Heise Syndrome
Intrauterine growth retardation, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:1512
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Temtamy Syndrome
Ventriculomegaly, Agenesis of corpus callosum OMIM:218340
Adams-Oliver Syndrome 1
Atrial septal defect, Pachygyria, Ventricular septal defect, Hypoplasia of the corpus callosum, V... OMIM:100300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Hypoplasia of the corpus callosum, V... ORPHA:508498
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cortical gyra... OMIM:300968
48,Xxyy Syndrome
Ventriculomegaly ORPHA:10
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomeg... OMIM:610443
Jacobsen Syndrome
Spina bifida, Pachygyria, Ventricular septal defect, Ventriculomegaly, Cerebral atrophy, Growth d... ORPHA:2308
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Ventricular septal defect, Hypoplasia of the corpus callosum, Vent... ORPHA:464311
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Polymicrogyria, Col... ORPHA:75857
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:1812
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Ventriculomegaly ORPHA:96181
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Umbilical hernia, Short stature, Microcephaly OMIM:308205
Trichothiodystrophy
Ventricular septal defect, Ventriculomegaly, Umbilical hernia, Cerebral dysmyelination, Cerebral ... ORPHA:33364
Roifman-Chitayat Syndrome
Ventriculomegaly, Umbilical hernia OMIM:613328
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Noncompac... OMIM:607872
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Atrial septal defect, Abnormal heart morphology, Proportionate shor... ORPHA:500150
Fryns Syndrome
Ventriculomegaly, Abnormal cardiac septum morphology, Cerebral cortical atrophy, Congenital diaph... ORPHA:2059
Linear Nevus Sebaceus Syndrome
Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Ce... ORPHA:2612
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:123790
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypomimic face, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, A... OMIM:617527
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Delayed puberty, Short stature, Micr... ORPHA:819
Genitopatellar Syndrome
Atrial septal defect, Colpocephaly, Ventricular septal defect, Hip contracture, Knee flexion cont... OMIM:606170
Encephalocraniocutaneous Lipomatosis
Absent septum pellucidum, Ventriculomegaly, Cerebral atrophy, Subcortical cerebral atrophy, Cereb... ORPHA:2396
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the brainstem, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventri... ORPHA:464306
Xeroderma Pigmentosum, Complementation Group B
Ventriculomegaly, Microcephaly, Basal ganglia calcification, Short stature OMIM:610651
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Diastasis recti, Abnormal periventricular white matter morphology, Ventricular sept... ORPHA:488632
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Olivopontoc... ORPHA:457284
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Megalencephaly, Cerebral cortical atrophy, Thick corpus callosum, Hydrocephalus OMIM:617011
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Growth delay, Aortic valve ste... ORPHA:96121
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Microcephaly, Ventriculomegaly OMIM:617903
Holoprosencephaly 3
Holoprosencephaly, Ventriculomegaly, Central diabetes insipidus, Microcephaly OMIM:142945