Gene Summary

Name:
tubulin, beta 2B class IIB
Synonyms:
brdp,  2410129E14Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Tubb2bem1(IMPC)J HOM   Early adult 0.00

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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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Tubb2b 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 Tubb2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... OMIM:610031
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Abnormal brainstem morphology, Polymi... ORPHA:300573
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Dysgyria, Abnormality of the internal capsule, Abnormal corpus call... ORPHA:467166
Congenital Fibrosis Of Extraocular Muscles
Polymicrogyria, Optic nerve hypoplasia ORPHA:45358
Dysequilibrium Syndrome
ORPHA:1766

The table below shows human diseases predicted to be associated to Tubb2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventric... ORPHA:171703
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Gra... OMIM:604213
Lissencephaly 4
Lissencephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hy... OMIM:614019
Lissencephaly 3
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, A... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... OMIM:610031
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... OMIM:608716
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasia of the brainst... OMIM:615771
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microlissencephaly, Hypoplasia of the brainstem, Simplified gy... OMIM:617090
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Abnormality... ORPHA:101029
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Abnormal brainstem morphology, Polymi... ORPHA:300573
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Anteverted nares, Microcephaly, Simplified g... OMIM:618492
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Gray matt... OMIM:617622
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Abno... OMIM:617542
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Narrow nasal bridge, Anteverted nares, Probst bundles, Agenesis of corpus c... OMIM:618286
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Abnormal basa... ORPHA:255182
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of corpus callosum, Cer... OMIM:619301
Schizophrenia 15
Hyperactivity OMIM:613950
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypo... OMIM:619302
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Colpocephaly, Agenesis of cor... ORPHA:250972
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Atrophy/Degeneration affecting the brainstem, Microcephaly, Cerebral cortic... OMIM:620200
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent... OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, ... OMIM:613153
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis h... ORPHA:171680
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of corpus callo... OMIM:617127
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Progressive microcephaly, Hypoplasia of the pons, Partial ... OMIM:618959
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:616570
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616540
Lissencephaly 6 With Microcephaly
Hypoplasia of the corpus callosum, Lissencephaly, Polymicrogyria, Microlissencephaly, Anteverted ... OMIM:616212
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Hypoplasia of the pons, Microcephaly, Simplified gyral patt... OMIM:616171
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral hypoplasia, Microcephaly, Apnea, Agenesis of corpus callosum, Cerebe... ORPHA:168486
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401820
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Craniotelencephalic Dysplasia
Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, C... ORPHA:1528
Microlissencephaly
Hypoplasia of the corpus callosum, Cerebral dysmyelination, Lissencephaly, Polymicrogyria, Cerebe... ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Hypoplasia of the corpus callosum, Lissencephaly, Polymicrogyria, Cerebellar at... OMIM:618730
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus ... ORPHA:166024
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Ventriculomegaly, Partial agenesis of the corpus callosum, Agenesis of corpus c... ORPHA:85179
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Reduced cerebral white ma... OMIM:615095
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum, Respiratory distress OMIM:619466
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Pachygyria, Agenesis of c... ORPHA:2512
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Enlarged tectum, Cerebellar vermis hypoplasia, Cerebellar hemi... OMIM:618325
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplasia of the corpus callosum, Wide nose, Respiratory distress, Cerebral calcification, Micro... ORPHA:89844
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Microcep... OMIM:304100
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Pontocerebellar atrophy, Wide n... OMIM:620428
3Q13 Microdeletion Syndrome
Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum ORPHA:1621
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ... OMIM:600118
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum OMIM:303350
Microhydranencephaly
Hydranencephaly, Microcephaly, Prominent nasal bridge, Agenesis of corpus callosum, Cerebellar hy... OMIM:605013
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Microcephaly 16, Primary, Autosomal Recessive
Primary microcephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616681
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Craniotelencephalic Dysplasia
Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fronta... OMIM:218670
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal... ORPHA:500166
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Lissencephaly, Cerebellar vermi... ORPHA:300570
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Cerebellar atrophy, Agenesis of corpus callosum OMIM:618324
Peho-Like Syndrome
Hypoplasia of the corpus callosum, Short nose, Lissencephaly, Progressive microcephaly, Polymicro... OMIM:617507
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum... OMIM:619111
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Polymicrogyria, Type II lissencephaly, O... ORPHA:370959
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Short nose, Hydrocephalus, Anteverted nares, Agenesis of corpu... OMIM:618577
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Microcephaly, Parietal cortical atrophy, Agenesis of corpus callosum, B... OMIM:618766
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Cleft ala nasi, Dandy-Walker malformation, Gray matter heterot... OMIM:164180
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia cysts, Anteverted nares, Flared nostrils, Apneic episodes precipi... OMIM:312170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Lissencephaly 7 With Cerebellar Hypoplasia
Lissencephaly, Agyria, Microcephaly, Neonatal death, Agenesis of corpus callosum, Cerebellar hypo... OMIM:616342
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Secondary microcephaly, Reduced cerebral white matter volume, Promine... OMIM:620317
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar cyst, Periventricular leukomalaci... ORPHA:79243
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Short nose, Prominent nasal tip ORPHA:502430
Lissencephaly, X-Linked, 2
Lissencephaly, Prominent nasal bridge, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly,... OMIM:300215
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Agenesis... OMIM:225790
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Optic nerve hypoplasia, Hypoplasia of the pons, ... OMIM:618736
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Ventriculomegaly, Depressed nasal bridge, Agenesis of corpus callosum OMIM:615286
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Optic nerve hypoplasia, Pachygyria, Abnormality of the anterior commissure,... ORPHA:572013
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum, Neonatal death, Mild fetal ventriculomegaly, Patent ductus arteriosus OMIM:610498
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Hypoplasia of the corpus callosum, Respiratory distress, Reduced cerebral white matter volume, Ce... OMIM:617977
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Anteverted nares, Abnormal periventricular white matter morphology, Dilated fourth ve... OMIM:613443
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Lissencephaly, Dysgenesis of the basal ganglia, Pachygyria, Agenesis of corpus callosum, Cerebell... OMIM:620316
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Joubert Syndrome 3
Molar tooth sign on MRI, Thin corpus callosum, Elongated superior cerebellar peduncle, Central ap... OMIM:608629
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern, Prominent nose, Primary microcepha... OMIM:604804
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplas... ORPHA:220497
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Microcephaly, Cerebral cortical atrophy, Simplified gyral pattern, Agenes... OMIM:617669
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Hydrocephalus, Progressive microcephaly, Type II lissencephaly, Agyria, Microcepha... OMIM:615249
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Imagawa-Matsumoto Syndrome
Polymicrogyria, Wide nasal ridge, Agenesis of corpus callosum OMIM:618786
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Cerebellar atrophy, Microceph... OMIM:614833
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge, Agenesis of corpus callosum ORPHA:380
Baraitser-Winter Syndrome 2
Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:614583
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Abnormal brai... ORPHA:163961
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen... OMIM:207950
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Abnormal dentate nucleus morphology, Microcephaly, Lateral ventricle dilata... OMIM:619517
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar cyst, Abnormal cortical... ORPHA:2524
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Chiari type I malformation, Hydrocephalus, Agenesis of corpus ... OMIM:218350
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb... OMIM:620156
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Depressed na... OMIM:619955
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Microcephaly, Agenesis of corpus callo... OMIM:617695
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Microcephaly, Abnormal globus pallidus morphology, Agenesis of... OMIM:618603
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplas... ORPHA:220493
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... ORPHA:101030
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Bifid nasal tip, Choanal atresia, Agenesis of corpus c... ORPHA:521308
6Q25 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Wide nasal bridge, Agenesis of corpus callosum ORPHA:251056
Glycine Encephalopathy 1
Agenesis of corpus callosum OMIM:605899
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Neonatal death, Apnea, Lateral v... OMIM:610015
Lethal Osteosclerotic Bone Dysplasia
Short nose, Respiratory distress, Anteverted nares, Dyspnea, Depressed nasal ridge, Microcephaly ORPHA:1832
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Lissencephaly, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Microcephaly,... OMIM:615219
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Cerebellar atrophy, Microcephaly, Agenesis of co... OMIM:616602
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra... OMIM:619244
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:2508
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Short nose, Chiari type I malformation, Anteverted nares, Agen... OMIM:613735
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Secondary microcephaly, Hyperintensity of cerebral white matter on MRI, Hypoplasia of the pons, C... ORPHA:500144
Joubert Syndrome 23
Cerebellar dysplasia, Tachypnea, Apnea, Dysplastic corpus callosum OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Encephalocele, Lissencephaly, Hydrocephalus, Dandy-Walker malf... OMIM:614643
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Lissencephaly, Abnormal basal ganglia morphology, Hypoplasia of the brainstem, Cerebral hypoplasi... ORPHA:86822
Baraitser-Winter Syndrome 1
Short nose, Patent ductus arteriosus, Lissencephaly, Anteverted nares, Microcephaly, Pachygyria, ... OMIM:243310
Frontonasal Dysplasia 1
Bifid nasal tip, Anterior basal encephalocele, Broad nasal tip, Bifid nose, Agenesis of corpus ca... OMIM:136760
Al-Gazali-Bakalinova Syndrome
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum, Wide nas... OMIM:607131
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Thin corpus callosum, Microcephaly, Broad nasal tip, Lateral ventricle dilatation, Wi... OMIM:615716
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Dandy-Walker malformation, Progressive microcephaly, Cerebellar atrophy, Depressed na... ORPHA:438178
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Progressive microcephaly, Abnormal corpus callosum morphology,... ORPHA:561854
Holoprosencephaly 14
Aqueductal stenosis, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker malformatio... OMIM:619895
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Type II lissencephaly, Cerebellar dysplasia, Micro... OMIM:613150
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Agenesis of corpus callosum, Absent nares, Aplasia/Hypop... ORPHA:990
Even-Plus Syndrome
Dysplastic corpus callosum, Short nose, Bifid nasal tip, Depressed nasal ridge, Agenesis of corpu... OMIM:616854
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Microcephaly, Diffuse cerebral atrophy, Prominent nasal bridge, Basal ganglia... OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Short nose, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:300887
Amish Lethal Microcephaly
Lissencephaly, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callo... ORPHA:99742
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:452
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Anteverted nares, Cerebellar hypoplasia, Aplasia/Hypoplasia of the ... OMIM:616819
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Anteverted nares, Microcephaly, Agenesis of cor... OMIM:616362
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Anteverted nares, Microcepha... OMIM:614105
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Short nose, Microcephaly, Prominen... OMIM:619179
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis, Agenesis of corp... OMIM:614815
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Colpocephaly, Agenesis of corpus... OMIM:618619
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dysgenesis of the cerebellar vermis, Low hanging columella, Ce... OMIM:617751
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Agenesis of corpus callosum, Short columella OMIM:619989
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hyperintensity of cerebral white matter on MRI, Chiari type I malformation, Hydrocephalus, Dandy-... OMIM:618476
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Agenesis of corpus callosum, Primar... ORPHA:466688
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Patent ductus arter... OMIM:618142
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Ventriculomegaly, Partial agenesis of the corpus callosum, Cavum se... OMIM:619074
4Q21 Microdeletion Syndrome
Ventriculomegaly, Depressed nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:238750
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Diffuse white matter abnormalities, Agenesis of corpus callosum, Ventriculomegaly, Wi... OMIM:218000
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... OMIM:616900
Adenylosuccinate Lyase Deficiency
Microcephaly, Short nose, Anteverted nares, Hypointensity of cerebral white matter on MRI ORPHA:46
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Short nose, Optic nerve hypoplasia, Frontal cortical atrophy, ... ORPHA:228384
Greig Cephalopolysyndactyly Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:175700
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microlissencephaly, Optic nerve hypoplasia, Small cerebral cor... OMIM:617914
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Primary microcephaly, Partial agenesis of th... OMIM:607196
Mitochondrial Complex I Deficiency, Nuclear Type 16
Agenesis of corpus callosum, Caudate atrophy OMIM:618238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cerebellar cyst, Encephalocele, Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencepha... OMIM:253800
Kleeblattschaedel
Hydrocephalus OMIM:148800
Walker-Warburg Syndrome
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyr... ORPHA:899
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Vici Syndrome
Gray matter heterotopia, Depressed nasal tip, Hypoplasia of the pons, Cerebral cortical atrophy, ... ORPHA:1493
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Cerebral cor... OMIM:604360
17Q21.31 Microduplication Syndrome
Microcephaly, Anteverted nares, Short nose ORPHA:217340
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Gray matter heterotopia, Vent... OMIM:619775
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Bifid nasal tip, Thick nasal alae, Retrocerebellar cyst, Broad nasal ... ORPHA:1827
Miller-Dieker Syndrome
Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Cerebral cortical atrophy, Lisse... ORPHA:531
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Short nose, Wide nose ORPHA:217385
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Depressed nasal bridge, Agenesis of corpus callosum ORPHA:261519
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Dandy-Walker malformation, Dilated fourth ventricle, Microcephaly, Lateral ventricle ... ORPHA:3078
Developmental And Epileptic Encephalopathy 73
Microcephaly, Short nose, Narrow nasal bridge, Hypoplasia of the corpus callosum OMIM:618379
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Agenesis of corpus callosum, Noncommunicating hydrocephalus, Bulbous nose, Wide... OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Optic nerve hypoplasia, Hy... OMIM:615181
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Anteverted nares, Underdeveloped nasal alae, Bifid nose, Agenesis of cerebellar ve... ORPHA:228390
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Prominent nose, Cerebellar hypoplasia, Primary microcepha... OMIM:616051
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Abnormal corpus striatum morphology ORPHA:238329
Congenital Disorder Of Glycosylation, Type Iu
Secondary microcephaly, Short nose, Respiratory distress, Cerebral white matter atrophy, Cerebell... OMIM:615042
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Cerebellar atrophy, Abnormal periventricular white matter morphology, Mic... ORPHA:468631
Meckel Syndrome 12
Anteverted nares, Cerebral hypoplasia, Microcephaly, Agenesis of cerebellar vermis, Agenesis of c... OMIM:616258
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencep... OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformat... OMIM:236670
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Desmosterolosis
Abnormality of the nose, Short nose, Abnormal cortical gyration, Patent ductus arteriosus, Lissen... ORPHA:35107
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Respiratory distress ORPHA:141152
16P13.11 Microdeletion Syndrome
Short nose, Anteverted nares, Microcephaly, Abnormality of neuronal migration, Holoprosencephaly,... ORPHA:261236
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Agenesis of corpus callosum ORPHA:93267
Temtamy Syndrome
Convex nasal ridge, Ventriculomegaly, Thick corpus callosum, Agenesis of corpus callosum OMIM:218340
Septopreoptic Holoprosencephaly
Megalencephaly, Abnormal septum pellucidum morphology, Ethmoidal encephalocele, Rhombencephalosyn... ORPHA:280195
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Partial agenesis of the corpus callosum, Depressed nasal bridge OMIM:618346
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Microcephaly, Ventriculomegaly, Short nose, Hypoplasia of the corpus callosum ORPHA:1495
Fg Syndrome 3
Chiari type I malformation, Agenesis of corpus callosum OMIM:300406
Agnathia-Otocephaly Complex
Wide nose, Holoprosencephaly, Agenesis of corpus callosum, Respiratory distress OMIM:202650
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Simplif... OMIM:620001
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Bilateral choanal atresia/stenosis... ORPHA:314679
Perching Syndrome
Depressed nasal bridge, Respiratory distress OMIM:617055
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Thin corpus callosum, Chiari type I malformation, Cerebellar vermis hypoplasia, Anteverted nares,... OMIM:619720
Alkuraya-Kucinskas Syndrome
Short nose, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Anteverted nares, Gray matte... OMIM:617822
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypoplasia of the corpus callosum, Short nose, Cavum septum pellucidum, Cerebellar vermis hypopla... OMIM:619383
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Short nose, Abnormal septum pellucidum morphology, Hydrocephalus, Anteverted na... ORPHA:171839
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Respiratory distress, Hydrocephalus, Anteverted nares, Probst bundles, ... OMIM:612863
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebral atrophy, Neuronal loss in basal ganglia, Focal cortical dysplasia, Respiratory distress,... OMIM:604377
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Partial agenesis of the corpus callosum OMIM:245349
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Long nose, Colpocephaly, Agenesis of c... OMIM:620113
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Trisomy 1Q
Cerebellar hypoplasia, Wide nose, Hydrocephalus, Agenesis of corpus callosum, Patent ductus arter... ORPHA:261344
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares ORPHA:2015
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Short nose, Thin corpus callosum, Hydrocephalus, Microcephaly, Colp... OMIM:619833
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Hypoplasia of the corpus callosum, Narrow nasal bridge, Cerebellar vermis... OMIM:620073
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Colpocephaly,... OMIM:620352
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Disorder Of Glycosylation, Type Iy
Microcephaly, Respiratory distress, Hypoplasia of the corpus callosum OMIM:300934
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Cerebellar atrophy, Bulbous nose, Microcephaly, Focal polymicrogyria,... OMIM:619103
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Short nose, Cerebral cortical atrophy ORPHA:85277
Stromme Syndrome
Stillbirth, Hydrocephalus, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Pr... OMIM:243605
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hydrocephalus, Cerebral calcification, Cerebellar vermis hypop... ORPHA:157
Septooptic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Agenesis of corpus callosum OMIM:182230
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Anteverted nares, Microcephaly, Agenesis of corpus callosum, Pa... OMIM:217980
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Microcephaly, Agenesis of corpus callosum, Bulbous nose, Depressed nasal bridge ORPHA:261144
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of corpus callos... ORPHA:459061
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ... OMIM:615802
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Aplasia/Hypoplasia of t... ORPHA:1812
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Anteverted nares, Hypoplastic an... OMIM:616975
Fumarase Deficiency
Cerebral atrophy, Lissencephaly, Polymicrogyria, Anteverted nares, Open operculum, Microcephaly, ... OMIM:606812
Rhiny
Short nose, Anteverted nares OMIM:180360
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Anteverted nares, Choanal atresia, Prominent nasal bridge, C... OMIM:123790
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Midline defect of the nose, Encephalocele, Cavum septum pelluc... OMIM:603671
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Curry-Jones Syndrome
Megalencephaly, Chiari type I malformation, Polymicrogyria, Lipomyelomeningocele, Hemimegalenceph... OMIM:601707
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Non-Distal Duplication 10Q
Microcephaly, Short nose, Convex nasal ridge, Depressed nasal bridge ORPHA:1695
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the corpus callosum, Global brain atrophy, Progressive microcephaly, Anteverted nar... ORPHA:481152
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Desmosterolosis
Short nose, Hydrocephalus, Anteverted nares, Microcephaly, Patent ductus arteriosus, Ventriculome... OMIM:602398
Holoprosencephaly 7
Semilobar holoprosencephaly, Midline defect of the nose, Short nose, Alobar holoprosencephaly, Hy... OMIM:610828
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Agenesis of corpus callosum, Choanal atresia OMIM:147950
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Wide nose, Hydrocephalus, Dandy-Walker malformation, Anteverted nares, Cerebral hypop... OMIM:257300
Immunodeficiency 95
Recurrent viral upper respiratory tract infections, Respiratory distress OMIM:619773
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Anteverted nares, Microcephaly,... OMIM:248700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebral calcific... ORPHA:228308
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Hypoplasia of the corpus callosum, Short nose, Cerebellar hypoplasia, Choanal atresia, Patent duc... ORPHA:284169
Ritscher-Schinzel Syndrome 4
Dandy-Walker malformation, Agenesis of corpus callosum, Mild fetal ventriculomegaly, Cerebellar h... OMIM:619435
Radio-Tartaglia Syndrome
Anteverted nares, Prominent nasal tip, Gray matter heterotopia, Microcephaly, Prominent nasal bri... OMIM:619312
Ring Chromosome 22 Syndrome
Wide nasal base, Microcephaly, Agenesis of corpus callosum, Bulbous nose, Absent septum pellucidum ORPHA:1446
Braddock-Carey Syndrome 1
Microcephaly, Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum OMIM:619980
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Chiari malformat... OMIM:609053
Coffin-Siris Syndrome 11
Bulbous nose, Depressed nasal bridge, Agenesis of corpus callosum OMIM:618779
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Anteverted nares, Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrop... ORPHA:96147
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Low hanging columella, Microcephaly, Colpocephaly, Agenesis of... OMIM:617260
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Abnormality of the sense of smell, Absen... ORPHA:2189
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation, Cortical dysplasia, ... OMIM:613001
Peho Syndrome
Hypoplasia of the corpus callosum, Short nose, Progressive microcephaly, Polymicrogyria, Cerebell... OMIM:260565
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Microcephaly, Anteverted nares, Short nose, Cerebellar atrophy OMIM:618506
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Cerebellar atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:616239
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
Curry-Jones Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:1553
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Progressive microcephaly, Optic nerve hypoplasia, Dilated fourth ventricle, Microceph... OMIM:300749
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Patent ductus arteriosus ORPHA:77298
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Microform Holoprosencephaly
Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Microcephaly, Midnasal stenos... ORPHA:280200
Combined Oxidative Phosphorylation Deficiency 30
Polymicrogyria, Respiratory distress OMIM:616974
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Respiratory distress, Cerebellar atrophy, Corpus callosum atrophy, Microcephaly... OMIM:619272
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Narrow nasal ridge, Microcephaly, Agenesis of corpus callosum, Bulbous nose OMIM:612940
Toriello-Carey Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Patent ductus arteriosus, Dandy-... ORPHA:3338
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Intellectual Developmental Disorder, X-Linked 30
Short nose, Hydrocephalus, Anteverted nares, Microcephaly, Prominent nasal bridge OMIM:300558
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypoplasia of the corpus callosum, Low hanging columella, Prominent nasal bridge, Bulbous nose, P... OMIM:618109
Chromosome 5P13 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Agenesis of corpus callosum, Low hanging columella OMIM:613174
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum ORPHA:238769
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Wide nasal bridge, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620250
Smith-Kingsmore Syndrome
Hypoplasia of the corpus callosum, Short nose, Megalencephaly, Hemimegalencephaly, Reduced cerebr... OMIM:616638
Emanuel Syndrome
Cerebral atrophy, Low hanging columella, Hydrocephalus, Dandy-Walker malformation, Microcephaly, ... ORPHA:96170
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Polymicrogyria, Intracerebral periventricular calcifications, Nasal congesti... OMIM:608836
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypoplasia of the corpus callosum, Short nose, Narrow nasal bridge, Respiratory distress, Cerebel... ORPHA:544503
Edinburgh Malformation Syndrome
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Abnormality of neuronal migration ORPHA:1895
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Short nose, Convex nasal ridge, Encephalocele OMIM:200130
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Depressed nasal tip, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomeg... OMIM:612651
Encephalopathy Due To Sulfite Oxidase Deficiency
Microcephaly, Short nose, Abnormal pattern of respiration ORPHA:833
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Short nose, Anteverted nares, Cerebellar atrophy, Hypoplasia of the pons, Ventr... OMIM:616430
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Prominent nasal bridge, Choanal atresia, Agenesis of corpus callosum, Patent ductus arteriosus ORPHA:52055
Nizon-Isidor Syndrome
Hypoplasia of the corpus callosum, Anteverted nares, Prominent nasal bridge, Agenesis of corpus c... OMIM:618872
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Anteverted nares, Gray matter heter... OMIM:605039
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Anteverted n... ORPHA:2318
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Congenital Disorder Of Glycosylation, Type Ie
Secondary microcephaly, Pontocerebellar atrophy, Respiratory distress, Patent ductus arteriosus, ... OMIM:608799
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Anteverted nares, M... OMIM:616449
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short nose, Chiari type I malformation, Hydrocephalus, Microcephaly, Dep... OMIM:241800
Periventricular Nodular Heterotopia 7
Hypoplasia of the corpus callosum, Short nose, Polymicrogyria, Cortical dysplasia, Anteverted nar... OMIM:617201
Fried Syndrome
Hydrocephalus ORPHA:85335
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Short nose, Antevert... OMIM:616420
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Short nose, Narrow nasal ridge, Microcephaly, Agenesis of corp... ORPHA:363528
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Short nose, Wide nos... OMIM:615851
Muscular Hypertonia, Lethal
Respiratory distress OMIM:254120
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Patent ductus arteriosus, ... OMIM:612582
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Respiratory distress ORPHA:26792
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Apnea, Cerebellar atrophy, Respiratory distress ORPHA:79097
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Long nose, Depressed nasal bridge, Agenesis of corpus callosum OMIM:612337
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Patent ductus arteriosus, Respirat... OMIM:300968
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Apert Syndrome
Convex nasal ridge, Hydrocephalus, Choanal atresia, Depressed nasal bridge, Agenesis of corpus ca... ORPHA:87
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Thin corpus callosum, Partial agenesis of the corpus callosum OMIM:619653
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Donnai-Barrow Syndrome
Short nose, Broad nasal tip, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callos... OMIM:222448
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dila... ORPHA:1692
Pierpont Syndrome
Short nose, Wide nose, Microcephaly, Broad nasal tip, Chiari malformation OMIM:602342
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Secondary microcephaly, Short nose, Polymicrogyria, Gray matter heter... OMIM:618820
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge, Patent ductus arteriosus ORPHA:261120
Pontocerebellar Hypoplasia, Type 10
Hypoplasia of the corpus callosum, Short nose, Low hanging columella, Progressive microcephaly, R... OMIM:615803
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Microcephaly, Holoprosencephaly, Agenesis of corpus... OMIM:264480
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Spina bifida occulta, Small cere... OMIM:617360
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Depressed nasal bridge, Agenesis of corpus callosum OMIM:618929
Peho Syndrome
Short nose, Hydrocephalus, Anteverted nares, Atrophy/Degeneration affecting the brainstem, Cerebe... ORPHA:2836
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventr... OMIM:617296
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypoplasia of the corpus callosum, Global brain atrophy, Optic nerve hypoplasia, Microcephaly, Ag... OMIM:301056
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cortical dysplasi... ORPHA:356961
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge ORPHA:1200
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Dysgyria, Abnormality of the internal capsule, Abnormal corpus call... ORPHA:467166
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Respiratory distress ORPHA:261304
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Anosmia, Septo-optic dysplasia, Agenesis of corpus callosum, Aplasia/Hypo... ORPHA:3157
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Microlissencephaly-Micromelia Syndrome
Secondary microcephaly, Short nose, Respiratory distress, Lissencephaly, Cerebellar hypoplasia ORPHA:50810
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares, Microcephaly, Cerebral cortical atrophy, Partial agenesis of the co... OMIM:234050
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Respiratory distress OMIM:618733
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Short nose, Progressiv... OMIM:617802
Tetrasomy 5P
Short nose, Respiratory distress, Hydrocephalus, Anteverted nares, Pericallosal lipoma, Cerebella... ORPHA:3309
Genitopatellar Syndrome
Wide nose, Microcephaly, Apnea, Prominent nasal bridge, Agenesis of corpus callosum, Prominent nose ORPHA:85201
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Anteverted nares, Olivo... ORPHA:457284
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Thin corpus callosum, Elongated superior cerebellar peduncle, Low hanging co... OMIM:619512
Vitamin K Antagonist Embryofetopathy
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Myelomeningocele, Depressed nasal b... ORPHA:1914
Isolated Exencephaly
Depressed nasal bridge, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corp... ORPHA:563612
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Short nose, Respiratory distress, Hydrocephalus, Choanal atresia, Chiari mal... ORPHA:93259
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Agenesis of corpus c... ORPHA:3301
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele, Low hanging columella, Dandy-Walker malformation, Choanal atresia, Mi... OMIM:619148
Neurooculorenal Syndrome
Aqueductal stenosis, Thin corpus callosum, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicro... OMIM:620305
Monosomy 13Q34
Microcephaly, Broad nasal tip, Prominent nasal bridge, Epistaxis, Agenesis of corpus callosum, Pr... ORPHA:96168
Clark-Baraitser Syndrome
Short nose, Low hanging columella, Anteverted nares, Microcephaly, Depressed nasal bridge OMIM:617752
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Optic nerve hypoplasia, Prominent nasal bridge, Simplified gyral pattern, Bulbous nos... OMIM:618828
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:139471
Maxillonasal Dysplasia, Binder Type
Short nose, Depressed nasal bridge, Short columella OMIM:155050
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Chromosome 14Q11-Q22 Deletion Syndrome
Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Patent ductus arteriosus, Mi... OMIM:613457
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Respiratory distress OMIM:619751
Developmental And Epileptic Encephalopathy 75
Hypoplasia of the corpus callosum, Secondary microcephaly, Short nose, Frontal cortical atrophy, ... OMIM:618437
Cebalid Syndrome
Short nose, Polymicrogyria, Anteverted nares, Depressed nasal ridge, Depressed nasal bridge OMIM:618774
Kleefstra Syndrome
Short nose, Anteverted nares, Dyspnea, Microcephaly, Cerebral cortical atrophy, Agenesis of corpu... ORPHA:261494
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Polymicrogyria, Porencephalic cyst, Occipi... OMIM:277170
Coffin-Siris Syndrome 4
Wide nose, Narrow nasal bridge, Dandy-Walker malformation, Anteverted nares, Thick nasal alae, Mi... OMIM:614609
Cadds
Ventriculomegaly, Short nose, Cerebellar atrophy, Abnormal cerebral white matter morphology ORPHA:369942
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Prominent nasal bridge, Choanal atresia, Agenesis of corpus callosum, Patent ductus arteriosus OMIM:300472
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Short nose, Secondary microcephaly, Diffuse cerebral atrophy, ... ORPHA:289266
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Septo-optic dyspla... OMIM:301043
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Abnormal corpus callosum morphology, Brainstem dysplasia,... OMIM:611560
Rhombencephalosynapsis
Short nose, Hydrocephalus, Abnormal dentate nucleus morphology, Anteverted nares, Septo-optic dys... ORPHA:59315
Sotos Syndrome
Cavum septum pellucidum, Anteverted nares, Broad nasal tip, Enlarged naris, Patent ductus arterio... OMIM:117550
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Odontochondrodysplasia
Respiratory distress, Short nose, Depressed nasal bridge, Patent ductus arteriosus ORPHA:166272
Aicardi Syndrome
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Polymicrogyria,... OMIM:304050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Narrow nasal bridge, Prominent nasal bridge, Agenesis of corpus callosum, Narrow nose OMIM:309520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated ... ORPHA:397715
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Respiratory distress, Progressive microcephaly, Cerebral white matter atrophy, Abnorm... ORPHA:329178
Leigh Syndrome
Hypoplasia of the corpus callosum, Neuronal loss in basal ganglia, Diffuse spongiform leukoenceph... ORPHA:506
Coffin-Siris Syndrome
Short nose, Wide nasal base, Dandy-Walker malformation, Anteverted nares, Thick nasal alae, Micro... ORPHA:1465
Thakker-Donnai Syndrome
Anteverted nares, Bulbous nose, Agenesis of corpus callosum, Communicating hydrocephalus ORPHA:1780
Pyruvate Carboxylase Deficiency
Hyperintensity of cerebral white matter on MRI, Cerebral white matter atrophy, Basal ganglia glio... ORPHA:3008
Succinic Acidemia
Respiratory distress OMIM:600335
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress ORPHA:77260
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Wide nasal bridge, Depressed nasal bridge, Respiratory distress OMIM:617102
Jaberi-Elahi Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, Hypoplasia of the corpus callos... OMIM:617988
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Patent ductus arteriosus, Bulbous nose,... ORPHA:250989
Plaa-Associated Neurodevelopmental Disorder
Hypoplasia of the corpus callosum, Short nose, Abnormal cortical gyration, Cerebellar cortical at... ORPHA:521426
Stt3B-Cdg
Microcephaly, Cerebellar atrophy, Respiratory distress ORPHA:370924
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformatio... OMIM:617281
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Birk-Landau-Perez Syndrome
Microcephaly, Pachygyria, Agenesis of corpus callosum OMIM:617595
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Agenesis of corpus callosum OMIM:300004
Tetrasomy 18P
Microcephaly, Short nose, Abnormality of neuronal migration ORPHA:3307
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Long nose, Short nose, Hydrocephalus, Cerebe... OMIM:618590
Micro Syndrome
Short nose, Cerebellar vermis hypoplasia, Anteverted nares, Abnormal cerebellum morphology, Micro... ORPHA:2510
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Anteverted nares, P... ORPHA:464738
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Cerebellar atrophy, Respiratory distress OMIM:615597
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Short nose, Encephalocele, Dimple on nasal tip, Bifid nasal ti... ORPHA:1791
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Dandy-Walker malformation, Open operc... ORPHA:434179
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:608091
Marshall-Smith Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Short nose, Cerebellar hypoplasia, Patent du... OMIM:602535
8P Inverted Duplication/Deletion Syndrome
Dandy-Walker malformation, Anteverted nares, Agenesis of corpus callosum, Cerebellar hypoplasia, ... ORPHA:96092
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Bainbridge-Ropers Syndrome
Hypoplasia of the corpus callosum, Short nose, Inferior cerebellar vermis hypoplasia, Anteverted ... OMIM:615485
Orofaciodigital Syndrome I
Cerebral atrophy, Cerebellar cyst, Abnormal cortical gyration, Hydrocephalus, Porencephalic cyst,... OMIM:311200
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hypoplasia of the corpus callosum, Megalencephaly, Respiratory distress, Hydrocephalus, Neonatal ... OMIM:616482
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Depressed nasal ridge, Depressed nasal bridge, Short col... ORPHA:1248
Opitz Gbbb Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Abnormal nasopharynx morphology, Ag... OMIM:300000
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoplasia of the corpus callosum, Short nose, Wide nose, Primary microcephaly, Anteverted nares,... ORPHA:391408
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Short nose ORPHA:2598
Fryns Syndrome