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
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
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
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Respi... ORPHA:171703
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Ventricul... OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Gray matter heterotopia, Microcephaly, Lis... OMIM:611603
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Ventriculomegaly, Micr... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Gray matter heterotopia, Subcortical band heteroto... OMIM:600348
Microcephaly 25, Primary, Autosomal Recessive
Microcephaly, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder OMIM:618351
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Bulbous nose, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly,... OMIM:617090
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern, Lisse... OMIM:614019
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Bulbous nose, Microcephaly, Simplified gyral patte... OMIM:618492
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicro... OMIM:615937
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Subcortical heterotopia, Pneumonia, Periventricular ... ORPHA:1083
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia o... OMIM:618730
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory failure, Wide... ORPHA:168486
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Lissencephaly, Pachygyria OMIM:300067
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Pneumonia, Agenesis of corpus callosum, Hypoplastic hippocampus, Ventriculomega... ORPHA:85179
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Bronchiectasis, Atelectasis, Lissencephaly, Abnormal mucociliary cle... OMIM:619466
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Hy... ORPHA:250972
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Depressed nasal bridge, Partial agenesis of the corpus callosum, Progress... OMIM:618959
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hydrocep... OMIM:618709
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simp... OMIM:619302
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Agenesis of corpus callosum, Bulbous nose, Ventriculomegaly, Dandy-Walker malformation, Hypoplasi... ORPHA:262767
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy, Hypoplasi... OMIM:617669
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Molar tooth sign on MRI, Wide nasal bridge, Ventriculomegaly, Anteve... OMIM:617127
Autosomal Recessive Spastic Paraplegia Type 69
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Peho-Like Syndrome
Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly, Lissencephaly, Pachygyria, Hypopl... OMIM:617507
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401820
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Wide nasal bridge, Hypopl... ORPHA:166024
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Corticospinal tract hypoplasia, Cerebellar hy... ORPHA:255138
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Bulbous nose, Periventricular heterotopia, Ventriculomegaly, Microcephaly, Li... OMIM:616212
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Flared nostrils, Wide nasal b... OMIM:312170
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Hydrocephalus, Apnea, D... OMIM:300864
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Ventriculomegaly, Gray matter heter... ORPHA:2512
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the b... OMIM:619301
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly, Microcephaly, Simplified gyral pa... OMIM:613402
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616681
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Acromelic Frontonasal Dysostosis
Broad nasal tip, Agenesis of corpus callosum, Bifid nasal tip, Retrocerebellar cyst, Hypopituitar... OMIM:603671
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Cerebellar atrophy, Agenesis of corpus callosum, Wide nasal bridge, Prima... ORPHA:89844
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Cerebellar atrophy, Anteverted nares, Microcephaly, Respiratory distress, Hypop... OMIM:618006
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Progressive microcephaly, Hyperactivity, Microcephaly, Hypoplasia of the corpus... OMIM:616657
Warburg Micro Syndrome 1
Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Perisylvian polymicrogyria,... OMIM:600118
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Cerebellar atrophy, Diffuse swelling of cerebral white matter, Ventriculomegaly... OMIM:613925
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Depressed nasal bridge, Agenesis of corpus callosum OMIM:612337
3Q13 Microdeletion Syndrome
Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum ORPHA:1621
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:605013
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Progressive microcephaly, Ventr... OMIM:617862
Immunodeficiency 8
Hyperactivity OMIM:615401
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly OMIM:616342
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Type I... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Cerebellar hypoplasia, Occipital encephalocele, Anencephaly, Ventric... OMIM:615287
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Broad nasal tip, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:612948
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:225790
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Coach Syndrome 2
Apneic episodes in infancy, Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, ... OMIM:619111
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea, Thick nasal alae, ... ORPHA:163961
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Cerebellar cyst, Dilated fourth ventricle, Cerebellar hypoplasia, Agenesis... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 33
Microcephaly, Hyperactivity OMIM:616311
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal cerebral white matter morphology, Ventriculomegaly, Depressed nasal bridge, Abnormal per... OMIM:613443
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Agenesis of corpus callosum, Bulbous nose, Parietal cortical atrophy, Microcephaly, Depressed nas... OMIM:618766
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Cleft ala nasi, Gray matter heterotopia, Dandy-Walker malformation, ... OMIM:164180
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Cerebellar atrophy, Anteverted nares, Wide nasal bridge, Depressed nasal bridge... OMIM:616430
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Vent... OMIM:613153
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Cerebellar cyst, Basal gangli... ORPHA:79243
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Hyperactivity, Microcephaly, Lissencephaly, ... OMIM:604317
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Microlis... OMIM:601160
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomega... OMIM:618577
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory failure, Dyspnea, Microcephaly, Respiratory distress, Antevert... ORPHA:1832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephal... OMIM:615249
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Spi... OMIM:618736
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Agenesis of corpus callosum, Patent ductus arteriosus OMIM:610498
Adenylosuccinate Lyase Deficiency
Microcephaly, Hypointensity of cerebral white matter on MRI, Anteverted nares, Short nose ORPHA:46
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Anteverted nares, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenes... OMIM:617751
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Microcephaly, Abnormal dentate nucleus morpholo... OMIM:619517
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Abnormal cerebral white ... ORPHA:352682
Lissencephaly, X-Linked, 2
Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly, Lissencephaly, Prominent nasal ... OMIM:300215
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Cerebellar atrophy, Agenesis of corpus callosum, Optic nerve hypoplas... OMIM:614833
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Chiari malformation, Gray matter heterotopia, Spin... OMIM:207950
Pontocerebellar Hypoplasia, Type 10
Progressive microcephaly, Underdeveloped nasal alae, Wide nasal bridge, Ventriculomegaly, Microce... OMIM:615803
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Progressive microcephaly, Dandy-Walker malformation, Depressed nasal bridge, ... ORPHA:438178
Joubert Syndrome With Renal Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Abnormal pattern of respiration, Prominent ... ORPHA:220497
Miller-Dieker Syndrome
Lissencephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Anteverted nares, Sh... ORPHA:531
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Abnormal corpus striatum morphology, Respiratory distress ORPHA:238329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum morphology, Ventriculomegaly, ... ORPHA:101070
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular heterotopia, Ventriculomegaly... OMIM:618476
Baraitser-Winter Syndrome 2
Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly, Pachygyria, Secondary microcephaly OMIM:614583
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Pneumonia, Agenesis of corpus callosum, Ventriculomegaly, Partial agenesis of t... ORPHA:1136
Congenital Disorder Of Glycosylation, Type Iu
Cerebellar hypoplasia, Cerebral white matter atrophy, Respiratory distress, Secondary microcephal... OMIM:615042
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Basal ganglia gliosis, Respiratory distress OMIM:604377
17P13.3 Microduplication Syndrome
Wide nose, Ventriculomegaly, Short nose, Hypoplasia of the corpus callosum ORPHA:217385
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum, Abnormal nasal bone morphology, Underdeveloped nasal alae, Wide nasa... ORPHA:521308
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Amish Lethal Microcephaly
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissencephaly, Spina bifida, Cerebel... ORPHA:99742
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Progressive microcephaly, Depressed nasal bridge, Cerebral cortical atrophy, ... OMIM:617802
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the corpus... ORPHA:228384
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Porencephalic cyst, Subcortical band ... OMIM:615191
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Imagawa-Matsumoto Syndrome
Polymicrogyria, Wide nasal ridge, Agenesis of corpus callosum OMIM:618786
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Recurrent pneumonia, Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Short nose ORPHA:1495
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Morphological abnormality of the corticospinal tract, Dysgenesis of ... ORPHA:238722
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy OMIM:618276
17Q21.31 Microduplication Syndrome
Microcephaly, Anteverted nares, Short nose ORPHA:217340
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Sleep apnea, Ventriculomegaly, Partial agenesis of the corpus callosum, ... OMIM:619074
Glutamine Deficiency, Congenital
Neonatal death, Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the corpus callosum, Neo... OMIM:610015
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Patent ductus arteriosus, Ventric... OMIM:218350
Glycine Encephalopathy
Agenesis of corpus callosum OMIM:605899
Craniosynostosis 6
Cerebellar atrophy, Abnormal corpus callosum morphology, Agenesis of corpus callosum, Dandy-Walke... OMIM:616602
Joubert Syndrome 23
Apnea, Cerebellar dysplasia, Tachypnea, Dysplastic corpus callosum OMIM:616490
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Brain Malformations With Or Without Urinary Tract Defects
Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum, Chiari type I m... OMIM:613735
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Cerebral cortical atrophy, Periventricular white matter hyperintensities, Attentio... OMIM:301008
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Subependymal Nodular Heterotopia
Myelomeningocele, Focal cortical dysplasia, Occipital encephalocele, Nasofrontal encephalocele, G... ORPHA:101030
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Joubert Syndrome With Ocular Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Abnormal pattern of respiration, Prominent ... ORPHA:220493
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Hypoplastic hippocampus, Agenesis of corpus callosum OMIM:600329
Developmental And Epileptic Encephalopathy 73
Microcephaly, Narrow nasal bridge, Short nose, Hypoplasia of the corpus callosum OMIM:618379
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Restrictive ventilatory defect, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly,... OMIM:218000
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormality of the basal ganglia, Cerebellar hypoplasia, Microcephaly, Partial agenesis of the co... ORPHA:86822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:613154
Curry-Jones Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Hemimegalencephaly, Megalencephaly, Polymicrogyria... OMIM:601707
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Agenesis of corpus callosum, Abnormal globus pallidus morphology, Ventriculomegaly, Microcephaly,... OMIM:618603
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar hypoplasia, Perisylvian polymicrogyria, Ventriculomegaly, Cerebe... OMIM:616531
Developmental And Epileptic Encephalopathy 99
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Hypoplastic hippocampus, Perisy... OMIM:619606
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:2508
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Cerebrooculofacioskeletal Syndrome 1
Cerebellar hypoplasia, Microcephaly, Prominent nasal bridge, Agenesis of corpus callosum OMIM:214150
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Dandy-Walker malformation, Microcephaly, Hydrocephalus OMIM:617281
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Dilated third ventricle, Leukoencephalopathy, Micr... OMIM:619244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Subcortical heterotopia, Cerebellar hypoplasia, Optic nerve hypoplasia, Ve... OMIM:614643
Foxg1 Syndrome
Abnormal respiratory system physiology, Abnormal corpus callosum morphology, Agenesis of corpus c... ORPHA:561854
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Cerebellar cyst... ORPHA:2524
6Q25 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Wide nasal bridge, Agenesis of corpus callosum ORPHA:251056
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Secondary micro... OMIM:615599
Jaberi-Elahi Syndrome
Cerebellar atrophy, Agenesis of corpus callosum, Microcephaly, Depressed nasal bridge, Short nose OMIM:617988
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Hypoplasia of the op... ORPHA:500144
Microcephaly, Amish Type
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Progressive microcephaly OMIM:607196
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Primary microcephaly, Partial a... OMIM:616819
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Agenesis of corpus callosum, Bulbous nose, Microcephaly, Hydrocephalus OMIM:612940
Baraitser-Winter Syndrome 1
Agenesis of corpus callosum, Patent ductus arteriosus, Wide nasal bridge, Ventriculomegaly, Micro... OMIM:243310
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Recurrent pneumonia, Wide nasal bridge, Ventriculomegaly, Microcephal... OMIM:619179
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Agen... OMIM:615286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Optic nerve ... OMIM:615181
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Agenesis of corpus callosum, Aplasia/Hypoplasia involving the nose, Respiratory dis... ORPHA:990
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus OMIM:619470
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Frontonasal Dysplasia 1
Broad nasal tip, Agenesis of corpus callosum, Cranium bifidum occultum, Pericallosal lipoma, Wide... OMIM:136760
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Ventriculomegaly, Short nose, Hypoplasia of the corpus callosum ORPHA:85277
Acromelic Frontonasal Dysplasia
Broad nasal tip, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Retrocerebellar cyst... ORPHA:1827
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Anteverted nares, Bulbous nose, Cerebellar hypoplas... OMIM:616900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Agenesis of corpus callosum, Cerebellar cyst, Cerebellar hypoplasia, Ventri... OMIM:613150
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Wide nose, Short nose OMIM:125700
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Congenital Disorder Of Glycosylation, Type Iy
Microcephaly, Respiratory distress, Hypoplasia of the corpus callosum OMIM:300934
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Tachypnea, Ventriculomegaly, Gray matter heterotopia... OMIM:617622
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Agenesis of corpus callosum, Primary microcephaly, Microcephaly, Anteverted nares, Cerebellar ver... ORPHA:466688
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
X-Linked Lissencephaly With Abnormal Genitalia
Agenesis of corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Microcephaly, Pachygyria ORPHA:452
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum, A... OMIM:618619
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Ventriculomegaly, Depressed nasal bridge, Agenesis of corpus callosum ORPHA:238750
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly,... ORPHA:899
Insulin-Like Growth Factor I Deficiency
Microcephaly, Hyperactivity OMIM:608747
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Kinked brainstem, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus c... OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Hypoplasia of the pyramidal tract, Agenesis of corpus callosum, Cerebellar cyst, Cerebell... OMIM:253800
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Gray matter heterotopia, Abnorma... OMIM:615960
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Degeneration of the lateral corticospinal tracts, Cerebral cortical ... OMIM:604360
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Microcephaly, Cerebral atrophy, Cerebellar atrophy, Respiratory distress OMIM:618426
Mental Retardation, Buenos Aires Type
Wide nasal bridge, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Prominen... OMIM:249630
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Patent ductus arteriosus, Chiari malformation, Depressed nasal bridge, Hydrocep... ORPHA:171839
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Wide nasal bridge, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Agenesis of corpus callosum, Patent ductus arteriosus, Basal ganglia cysts, Pulmonary arterial hy... OMIM:613623
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Depressed nasal ridge, Bifid nasal tip, ... OMIM:616854
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Meckel Syndrome 12
Agenesis of corpus callosum, Cerebellar hypoplasia, Wide nasal bridge, Microcephaly, Anteverted n... OMIM:616258
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Intellectual Developmental Disorder, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, H... OMIM:616362
Vici Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Gray matter heterotopia, Cerebral cortical at... ORPHA:1493
Delpire-Mcneill Syndrome
Agenesis of corpus callosum, Cortical dysplasia OMIM:619083
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Perching Syndrome
Depressed nasal bridge, Respiratory distress OMIM:617055
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Kleeblattschaedel
Hydrocephalus OMIM:148800
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Cerebellar atrophy, Ventriculomegaly, Microcephaly, Pulmonary arterial hyperten... OMIM:619272
Fried Syndrome
Cerebral calcification, Hydrocephalus ORPHA:85335
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Bulbous nose, Patent ductus arteriosus, Sleep apnea, Ventriculom... OMIM:616975
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:397951
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617761
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Depressed nasal bridge, Agenesis of corpus callosum ORPHA:261519
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:453521
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Bulbous nose, Wide nasal bridge, Dysgenesis of the hippocampus, Nonc... OMIM:619320
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of corpus callosum, Underdeveloped nasal alae, Agenesis of cerebellar vermis, Depressed ... ORPHA:228390
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Ventriculomegaly, Dandy-Walker malforma... OMIM:304340
Fumarase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Open operculum, Microcephaly, Hypoplasia of the br... OMIM:606812
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Primary microcephaly, Microcephaly, Partial agenesis of the corpus callosu... OMIM:616051
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Short nose, Convex nasal ridge, Encephalocele OMIM:200130
Desmosterolosis
Abnormal cortical gyration, Agenesis of corpus callosum, Patent ductus arteriosus, Abnormality of... ORPHA:35107
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Anteverted nares, Broad columella, Cavum septum pellucidum, Wide nasal bridge, Ventriculomegaly, ... OMIM:619383
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Agenesis of corpus callosum, Small cerebral cortex, Wide nasal bridge, Microcephaly, Hypoplasia o... OMIM:617360
Non-Distal Trisomy 10Q
Microcephaly, Depressed nasal bridge, Convex nasal ridge, Short nose ORPHA:1695
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Apneic episodes in infancy, Dilated fourth ventricl... ORPHA:3078
Beare-Stevenson Cutis Gyrata Syndrome
Agenesis of corpus callosum, Choanal stenosis, Chiari malformation, Ventriculomegaly, Choanal atr... OMIM:123790
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar hypoplasia, Periventricular heterotopia, Optic nerve hypoplasia, Microcephaly, Lissenc... ORPHA:468631
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Absent septum... OMIM:182230
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Tracheomalacia, Bilateral choanal atresi... ORPHA:314679
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Depressed nasal bridge, Holoprosence... ORPHA:261236
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:157
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress, Decreased response to growth hormone st... OMIM:245590
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Peho Syndrome
Cerebellar atrophy, Progressive microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Poly... OMIM:260565
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Agenesis of corpus callosum ORPHA:93267
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Agenesis of corpus callosum, Tracheomalacia, Patent ductus arteriosus, Cerebellar hypoplasia, Mic... OMIM:217980
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:610680
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Pulmonary arterial hypertension, Short nose, Hypoplasia of the corpus callosum OMIM:300887
Encephalopathy Due To Sulfite Oxidase Deficiency
Microcephaly, Abnormal pattern of respiration, Short nose ORPHA:833
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Sleep apnea, Dandy-Walker malformation, Depressed nasal bridge, Hydr... ORPHA:459061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cerebellar dysplasia, Hydrocephalus, Agenesis of corpus callosum, Kinked brainstem, Cereb... OMIM:236670
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Agenesis of corpus callosum, Patent ductus arteriosus, Respiratory distress, Hydr... OMIM:612863
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Cerebellar hypoplasia, Ventriculo... OMIM:612389
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Agenesis of corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Microcephaly, Low hangin... OMIM:617260
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Patent ductus arteriosus, Cerebellar hypoplasia, Ventriculomegaly, Choanal atresia,... ORPHA:284169
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Agenesis of corpus callosum, Aplasia of the olfactory bulb, Choanal atresia, Hyposmia OMIM:147950
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Progressive microcephaly, Ventriculomegaly, CSF lymphoc... OMIM:610333
Joubert Syndrome 7
Abnormal corpus callosum morphology, Neonatal breathing dysregulation, Episodic tachypnea, Tachyp... OMIM:611560
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Recurrent pneumonia, Anteverted nares, Patent ductus arteriosus, Cerebellar... ORPHA:500159
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Depressed nasal bridge, Partial agenesis of the corpus callosum OMIM:618346
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Periventricular leukomalacia, Hydrocephalus OMIM:618302
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Partial agenesis of the corpus callosum OMIM:245349
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Depressed nasal bridge... OMIM:241800
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Respiratory distress ORPHA:26792
Temtamy Syndrome
Ventriculomegaly, Convex nasal ridge, Agenesis of corpus callosum OMIM:218340
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Prominent nasal bridge, Hydrocephalus, Anteverted nares, Short nose OMIM:300558
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly, Microcephaly, H... OMIM:615851
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Broad nasal tip, Progressive microcephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Optic... OMIM:300749
Folinic Acid-Responsive Seizures
Apnea, Cerebellar atrophy, Frontotemporal cerebral atrophy, Respiratory distress ORPHA:79097
Trisomy 1Q
Agenesis of corpus callosum, Patent ductus arteriosus, Cerebellar hypoplasia, Ventriculomegaly, D... ORPHA:261344
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Cerebellar atrophy, Bulbous nose, Microcephaly, Partial agenesis of t... OMIM:619103
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Ventriculo... ORPHA:228308
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Tachypnea, Prominent nasal br... ORPHA:2318
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
Microlissencephaly-Micromelia Syndrome
Cerebellar hypoplasia, Lissencephaly, Respiratory distress, Secondary microcephaly, Short nose ORPHA:50810
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Bulbous nose, Microcephaly, Depressed nasal bridge, Short nose ORPHA:261144
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Microcephaly, Narrow nasal bridge, Respiratory distress, Hypoplasia of the co... ORPHA:544503
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Optic nerve hypoplasia, Primary microcephaly, Simplified gyral pattern, Depressed n... OMIM:618828
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Tracheomalacia, Respiratory distress, Wide nose, Holoprosencephaly OMIM:202650
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Thin corpus callosum, Hydrocephalus OMIM:616521
Microform Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Asthma, Midnasal stenosis, Choanal atresia, Micr... ORPHA:280200
Peho Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Porencephalic cyst, Ventriculom... ORPHA:2836
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Joubert Syndrome 32
Molar tooth sign on MRI, Depressed nasal bridge, Polymicrogyria, Abnormal cerebellum morphology OMIM:617757
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Pneumonia, Short nose OMIM:614069
Ring Chromosome 22 Syndrome
Agenesis of corpus callosum, Bulbous nose, Pleural effusion, Microcephaly, Absent septum pellucid... ORPHA:1446
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Wide nasal bridge, Respiratory distress, Hypoplasia of the corpus callosum OMIM:617102
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Cerebellar atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:616239
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal brainstem morphology, Global... ORPHA:70474
Holoprosencephaly 7
Semilobar holoprosencephaly, Fusion of the left and right thalami, Agenesis of corpus callosum, P... OMIM:610828
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Respiratory distress, Wide nasal bridge, Bulbous nose ORPHA:261304
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Ventriculomegaly, Fusion of the cere... ORPHA:59315
Mucolipidosis Iv
Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy, Cerebral dysmyelination OMIM:252650
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Bulbous nose, Patent ductus arteriosus, Cerebellar hypoplasia, Wide n... OMIM:300968
Developmental And Epileptic Encephalopathy 75
Hypoplasia of the corpus callosum, Wide nasal bridge, Cerebral cortical atrophy, Secondary microc... OMIM:618437
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Chiari malformation, Microceph... OMIM:609053
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Porencephalic cyst, Dandy-Walk... OMIM:613001
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus, Pontocerebellar atrophy, Depressed nasal bridge, Respiratory distress, ... OMIM:608799
Hydrolethalus
Agenesis of corpus callosum, Anencephaly, Abnormality of the sense of smell, Hydrocephalus, Absen... ORPHA:2189
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Desmosterolosis
Hypoplastic nasal bridge, Patent ductus arteriosus, Aplasia/Hypoplasia of the corpus callosum, Ve... OMIM:602398
Stt3B-Cdg
Microcephaly, Cerebellar atrophy, Respiratory distress ORPHA:370924
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Progressive microcephaly, Bulbous nose, Microcephaly, Cerebral cortical atrophy... OMIM:616420
Intellectual Developmental Disorder, Autosomal Dominant 43
Microcephaly, Cerebral atrophy, Hyperactivity, Hypoplasia of the corpus callosum OMIM:616977
Stromme Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Wide nasal bridge, Mi... OMIM:243605
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Cerebellar atrophy, Respiratory distress OMIM:615597
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Basal ganglia cysts, Bulbous nose, Neonatal respiratory distress, Re... OMIM:608836
Edinburgh Malformation Syndrome
Choanal atresia, Hydrocephalus, Respiratory insufficiency, Anteverted nares, Abnormality of neuro... ORPHA:1895
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Progressive microcephaly, Cerebellar hypoplasia, Cerebral white matter atrophy, Abnormal perivent... ORPHA:329178
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Microcephaly, Depressed nasal bridge, Hypoplasia of the corpus callosum, Short nose OMIM:614105
Coffin-Siris Syndrome 11
Depressed nasal bridge, Agenesis of corpus callosum, Bulbous nose OMIM:618779
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Depressed nasal bridge, Hydrocephalus, Aplasia/Hyp... ORPHA:1812
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Hydrocephalus, Polymicrogyria OMIM:602501
Opitz Gbbb Syndrome
Agenesis of corpus callosum, Aspiration, Wide nasal bridge, Abnormal nasopharynx morphology, Ante... OMIM:300000
Achondroplasia
Megalencephaly, Hydrocephalus OMIM:100800
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration, Short nose ORPHA:3307
Hyperphosphatasia With Mental Retardation Syndrome 3
Cerebral atrophy, Broad nasal tip, Wide nasal bridge, Microcephaly, Short nose OMIM:614207
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Agenesis of corpus callosum, Bulbous nose OMIM:613174
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy, Sec... OMIM:614222
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Depressed nasal bridge, Hypoplasia o... OMIM:615802
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Primary microcephaly, Diffuse cerebral atrophy, Secondary micr... ORPHA:289266
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Cebalid Syndrome
Depressed nasal ridge, Depressed nasal bridge, Polymicrogyria, Anteverted nares, Short nose OMIM:618774
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism, Depressed nasal ridge OMIM:601016
Emanuel Syndrome
Cerebral atrophy, Agenesis of corpus callosum, Patent ductus arteriosus, Chiari malformation, Ven... ORPHA:96170
Marden-Walker Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Dandy-Walker malformation, Hypo... OMIM:248700
Radio-Tartaglia Syndrome
Anteverted nares, Agenesis of corpus callosum, Bulbous nose, Wide nasal bridge, Gray matter heter... OMIM:619312
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Short nose ORPHA:2598
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Depressed nasal bridge, Holoprosencep... ORPHA:563612
Mosaic Variegated Aneuploidy Syndrome 1
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly, Dandy-Walker ... OMIM:257300
Curry-Jones Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:1553
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cerebral atrophy, Cerebellar hypoplasia, Depressed nasal bridge, Hypoplasia of the corpus callosu... OMIM:602613
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pierpont Syndrome
Broad nasal tip, Chiari malformation, Microcephaly, Wide nose, Short nose OMIM:602342
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Hyperactivity, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callo... ORPHA:88616
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Rhombencephalosynapsis, Dilated fourth ventricle, Cerebella... OMIM:619306
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Patent ductus arteriosus, Hydrocephalus ORPHA:77298
Apert Syndrome
Agenesis of corpus callosum, Convex nasal ridge, Chiari malformation, Ventriculomegaly, Choanal a... ORPHA:87
Joubert Syndrome 2
Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle, Neonatal breathing d... OMIM:608091
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Rhiny
Anteverted nares, Short nose OMIM:180360
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical hemiatrophy, Agenesis of corpus callosum, Subcortical cerebral atrophy, Ventric... ORPHA:96147
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:238769
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Microcephaly, Depressed nasal bridge, Short nasal septum, Short nose OMIM:302950
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus ORPHA:759
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Microcephaly, Depressed nasal bridge, Hypoplasia of the corpus callosum... OMIM:613457
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Cerebral white matter atrophy, Cerebellar cortical atrophy, Ventricul... ORPHA:521426
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Developmental Delay With Or Without Dysmorphic Facies And Autism
Atrophy/Degeneration affecting the brainstem, Bulbous nose, Patent ductus arteriosus, Narrow nose... OMIM:618454
Joubert Syndrome 3
Neonatal breathing dysregulation, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia,... OMIM:608629
Tetrasomy 5P
Cerebellar hypoplasia, Wide nasal bridge, Pericallosal lipoma, Pulmonary arterial hypertension, R... ORPHA:3309
Nizon-Isidor Syndrome
Agenesis of corpus callosum, Bulbous nose, Depressed nasal bridge, Prominent nasal bridge, Hypopl... OMIM:618872
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Wide nasal bridge, Gray matter heterotopia, Dandy-Walker malformatio... OMIM:605039
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Microcephaly, Depressed nasal bridge, Short nose OMIM:616910
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exerti... OMIM:610978
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Prominent nasal bridge, Agenesis of corpus callosum, Patent ductus arteriosus, Choanal atresia ORPHA:52055
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Mild fetal ventriculomegaly, Wide nasal bridg... OMIM:619435
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, Bulbous nose, Agenesis of corpus callosum, Hyperintensity of cerebral w... ORPHA:481152
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Abnormal periventricular white matter morphology, Respiratory distress ORPHA:1145
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Short nose, Wide nasal bridge, Bulbous nose OMIM:611936
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Cerebral atrophy, Cerebellar atrophy, Long nose, Cerebellar hypoplasia, Depressed ... OMIM:618590
Baker-Gordon Syndrome
Sleep apnea, Prominent nasal tip, Short nose OMIM:618218
Micro Syndrome
Aplasia/Hypoplasia of the corpus callosum, Wide nasal bridge, Abnormal cerebellum morphology, Mic... ORPHA:2510
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Mosaic Trisomy 1
Agenesis of corpus callosum, Cerebellar hypoplasia, Wide nasal bridge, Depressed nasal bridge, Po... ORPHA:1692
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Aspiration, Ventriculomegaly OMIM:618651
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Marshall-Smith Syndrome
Cerebellar hypoplasia, Macrogyria, Short nose, Recurrent upper respiratory tract infections, Pate... OMIM:602535
Donnai-Barrow Syndrome
Broad nasal tip, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Partial ... OMIM:222448
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Anteverted nare... OMIM:234050
Al-Raqad Syndrome
Microcephaly, Short nose OMIM:616459
Pseudotrisomy 13 Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Holoprosencephaly, Microcephaly, Hydrocephalu... OMIM:264480
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Depressed nasal bridge, Agenesis of corpus callosum, Interhypothalam... OMIM:618929
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Cerebral cortical atrophy, Hypoplasia of the corpus callosum OMIM:300983
Meckel Syndrome, Type 8
Microcephaly, Short nose, Depressed nasal ridge, Encephalocele OMIM:613885
Congenital Toxoplasmosis
Microcephaly, Cerebral calcification, Ventriculomegaly, Hydrocephalus ORPHA:858
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly, Chiari ... OMIM:618820
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of lateral ventricles, Dilate... OMIM:617296
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Respiratory distress, Agenesis of corpus callosum, Aspiration OMIM:618733
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad columella, Progressive microcephaly, Short nose OMIM:617865
Slc35A2-Cdg
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal midb... ORPHA:356961
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Cerebellar hypoplasia, Ventriculomegaly, Dyspnea, Microcephaly, Stridor, Respiratory insufficiency OMIM:615182
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Agenesis of corpus callosum, Patent ductus arteriosus, Choanal atresia, Prom... OMIM:300472
Nasu-Hakola Disease
Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus ORPHA:2770
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Microcephaly, Cough, Respiratory distress, Dyspnea ORPHA:86812
Verheij Syndrome
Microcephaly, Cerebral atrophy, Wide nasal bridge, Short nose OMIM:615583
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Dandy-Walker malformation, Agenesis of cereb... OMIM:611134
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Anosmia, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic... ORPHA:3157
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Prominent nas... ORPHA:357058
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Choanal atresia, Depressed nasal bridge, Hydrocephalus, Respiratory insufficien... ORPHA:1914
Intellectual Disability-Strabismus Syndrome
Narrow nasal ridge, Agenesis of corpus callosum, Patent ductus arteriosus, Microcephaly, Depresse... ORPHA:363528
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Morphological abnormality of the pyramidal tract, Short nose OMIM:256600
9q subtelomeric deletion syndrome
Microcephaly, Anteverted nares, Short nose DECIPHER:52
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Encephalocele, Depressed nasal ridge, Dimple on nasal tip, Cho... ORPHA:1791
Warburg Micro Syndrome 2
Hypoplasia of the corpus callosum, Global brain atrophy, Microcephaly, Prominent nasal bridge, Se... OMIM:614225
Intellectual Developmental Disorder, X-Linked 109
Microcephaly, Hyperactivity OMIM:309548
Monosomy 13Q34
Broad nasal tip, Epistaxis, Agenesis of corpus callosum, Microcephaly, Prominent nasal bridge, Pr... ORPHA:96168
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Ventriculomegaly, Microcephaly, Prominent nasal bridge, Short nose ORPHA:2083
Aicardi Syndrome
Recurrent pneumonia, Cavum septum pellucidum, Dilated third ventricle, Chiari malformation, Gray ... OMIM:304050
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI, Temporal cortical atrophy, Hypoplasia of ... OMIM:615665
Developmental And Epileptic Encephalopathy 68
Microcephaly, Cerebral cortical atrophy, Respiratory distress OMIM:618201
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Hypoplasia of the corpus callosum OMIM:618090
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly, Prominent nasal bridge, Wide nose, Apnea, Prominent nose ORPHA:85201
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Optic nerve hypoplasia, Ventricul... ORPHA:457284
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Progressive microcephaly, Ventriculomegaly, Respiratory insufficiency... OMIM:617527
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Cerebellar hypoplasia, Primary microcephaly, Microcephaly, Hypoplasia of the brainstem, Hypoplasi... ORPHA:391408
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Diaphanospondylodysostosis
Tracheomalacia, Depressed nasal ridge, Depressed nasal bridge, Respiratory distress, Respiratory ... OMIM:608022
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Microcephaly, Slender nose, Short nose OMIM:615419
Spondylometaphyseal Dysplasia, Sedaghatian Type
Agenesis of corpus callosum, Cerebellar hypoplasia, Cardiorespiratory arrest, Pachygyria, Respira... ORPHA:93317
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Colpocephaly, Septo-optic dysplasia, Agenesis of corpus callosum, Pa... OMIM:301043
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Burn-Mckeown Syndrome
Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Short nose ORPHA:1200
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:139471
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Chromosome 6Pter-P24 Deletion Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, Dandy-Walker malformation, Depressed nasal... OMIM:612582
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Patent ductus arteriosus, Short nose ORPHA:261120
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Chromosome 13Q33-Q34 Deletion Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, Anencephaly, Wide nasal bridge, Choanal at... OMIM:619148
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Bulbous nose, Periventricular heterotopia, Dilated third ventricle, Sle... ORPHA:434179
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Progressive microcephaly, Hypoplasia of the corpus callosum, Wide nose, Short nose OMIM:614261
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Global brain atrophy, Microcephaly, Depressed nasal bridge, Short nose OMIM:608776
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Short nose ORPHA:1988
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:1516
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Agenesis of corpus callosum, Underdeveloped nasal alae, Elevated circulating luteinizing hormone ... OMIM:618419
Leigh Syndrome
Cerebellar atrophy, Agenesis of corpus callosum, Olivopontocerebellar atrophy, Respiratory failur... ORPHA:506
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked