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Gene: Tubb2b MGI:1920960

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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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Viewing: all phenotypes

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.

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Auditory Brain Stem Response

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

8 Images

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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 brainstem, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissencephaly, ... OMIM:610031
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle d... ORPHA:300573
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Abnormal brainstem morphology, Agyria, Cerebellar vermis hypoplasia, Dysgyria, ... ORPHA:467166
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
Ventriculomegaly, Primary microcephaly, Cerebellar hypoplasia, Respiratory distress, Agenesis of ... ORPHA:171703
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydroceph... OMIM:604213
Lissencephaly 4
Wide nasal bridge, Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissenc... OMIM:614019
Lissencephaly 3
Gray matter heterotopia, Hypoplasia of the brainstem, Ventriculomegaly, Agyria, Cerebellar vermis... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissencephaly, ... OMIM:610031
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat... OMIM:614039
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Microce... OMIM:608716
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly... OMIM:615771
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle d... ORPHA:300573
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal cerebral cortex morphology, ... ORPHA:101029
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Ventriculomegaly, Primary microcephaly, Simplified gyral pattern, Ce... OMIM:617090
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Prominent nose, Simplified gyral pattern, Bulbous nose, Microcephaly... OMIM:618492
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Abno... OMIM:617542
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Respiratory insufficiency, Hypoplasia of the brainstem, Cerebellar dysplasia, Ventriculomegaly, C... OMIM:613153
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Ventriculomegaly, Abnormal brainstem morphology, Abnormal cerebellum morph... ORPHA:255182
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Ventriculomegaly, Wide nasal bridge, Cerebellar hypoplasia, Central sleep ap... ORPHA:168486
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Hydrocephalus, Part... OMIM:619302
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly, Thin corpus callosum, Narrow nasal bridge, Anteverted nares, Probst bundles, Ag... OMIM:618286
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, ... ORPHA:250972
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ventriculomega... ORPHA:171680
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Band Heterotopia
Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic... OMIM:600348
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Lissencephaly, Abnormal mucociliary clearance, Hypoplasia o... OMIM:619466
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Pneumonia, Agenesis ... ORPHA:85179
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Wide nasal bridge, Ventriculomegaly, Anteverted nares, Agenesis of corpu... OMIM:617127
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Partial ... OMIM:618959
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:616570
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum OMIM:616540
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Bulbous nose, D... ORPHA:262767
Microlissencephaly
Cerebral cortical atrophy, Subcortical heterotopia, Periventricular heterotopia, Ventriculomegaly... ORPHA:1083
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Microliss... OMIM:616212
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hyp... OMIM:616171
Autosomal Recessive Spastic Paraplegia Type 69
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... OMIM:619301
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401820
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Ventriculomegaly, Lissencephaly, Cerebellar atrophy, Microcephaly, C... OMIM:618730
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Wide nasal bridge, Cerebral atrophy, Hypoplasia of the corpus callosum, ... ORPHA:166024
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Hypoplasia of the brainstem, Periventricular heterotopia, Ventriculomegaly... ORPHA:255138
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sim... OMIM:615095
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Gray matter heterotopia, Ventriculomegaly, Microcephaly, Pachygy... ORPHA:2512
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Hypoplastic anterior commissure, C... OMIM:618325
Microhydranencephaly
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly, Microcepha... OMIM:605013
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Abnormality of neuronal migration, Wide nasal bridge, Primary microcephaly, 4-layered ... ORPHA:89844
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Respiratory insufficiency, Periventricular leukomalacia, Cerebellar atrophy, Agenesis of corpus c... OMIM:618324
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... ORPHA:1528
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial agenesis of ... OMIM:304100
3Q13 Microdeletion Syndrome
Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum ORPHA:1621
Masa Syndrome
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Perisylvian polymicrogyria, Wide nasal bridge, Cerebellar hypoplasia, M... OMIM:600118
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Broad nasal tip, Agenesis of corpus callosum OMIM:612948
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Agenesis of corpus callosum, Primary microcephaly OMIM:616681
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Agenesis of corpus callosum, Dysgenesis of the basal ganglia, Hy... OMIM:600638
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary... ORPHA:300570
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... OMIM:218670
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Coach Syndrome 2
Molar tooth sign on MRI, Apneic episodes in infancy, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:619111
Peho-Like Syndrome
Ventriculomegaly, Lissencephaly, Short nose, Progressive microcephaly, Cerebellar atrophy, Pachyg... OMIM:617507
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Ventriculomegaly, Recurrent aspiration pneumonia, Lateral ventricle dilata... ORPHA:79243
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Hypoplas... ORPHA:370959
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Bulbous nose, Depressed nasal bridge, Microcephaly, Frontal cortical atrophy, Parietal cortical a... OMIM:618766
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele, Cleft ala nasi, Agenesis of corpus callosum, Hypo... OMIM:164180
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Wide nasal bridge, Basal ganglia cysts, Apneic episodes precipitated by illness... OMIM:312170
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Short nose, Anteverted nares, Hypoplasia of t... OMIM:618577
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Lissencephaly, Microcephaly, Neonatal death, Agenesis of corpus ca... OMIM:616342
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II... OMIM:615249
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Spina bifida o... OMIM:618736
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Lissencephaly, X-Linked, 2
Ventriculomegaly, Wide nasal bridge, Lissencephaly, Pachygyria, Prominent nasal bridge, Agenesis ... OMIM:300215
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker... OMIM:225790
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal periventricular white matter morphology, Dilated fourth ventricle, Ventriculomegaly, Lat... OMIM:613443
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cerv... OMIM:207950
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Thin corpus callosum, Optic nerve hypoplasia, Pachygyria, A... ORPHA:572013
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus, Neonatal death, Agenesis of corpus callosum, Mild fetal ventriculomegaly OMIM:610498
Glutathionuria
Asthma, Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Joubert Syndrome 3
Neonatal breathing dysregulation, Molar tooth sign on MRI, Lateral ventricle dilatation, Episodic... OMIM:608629
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:615286
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Absent septum pellucidum, Age... OMIM:307000
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Reduced cerebral white matter volume, Ventriculomegaly, Cerebral hypoplasia, Respiratory distress... OMIM:617977
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Prominent nose, Primary microcephaly, Simplified gyral pattern, Partial ag... OMIM:604804
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Hyp... OMIM:617669
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Lissencephaly, Optic nerve hypoplasia, Microcephaly, Cerebellar atrophy, Dysplastic corpus callos... OMIM:614833
Joubert Syndrome With Renal Defect
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Apnea, Abnor... ORPHA:220497
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Abnormal brainstem morphology, Episodic tachypnea, Hydrocephalus, Apneic episod... ORPHA:163961
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... ORPHA:2182
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microcephaly, Cerebral atrophy OMIM:274270
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Brain stem c... ORPHA:1136
Imagawa-Matsumoto Syndrome
Wide nasal ridge, Agenesis of corpus callosum, Polymicrogyria OMIM:618786
Baraitser-Winter Syndrome 2
Ventriculomegaly, Lissencephaly, Secondary microcephaly, Pachygyria, Agenesis of corpus callosum OMIM:614583
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge, Agenesis of corpus callosum ORPHA:380
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Underdeveloped nasal alae, Wide nose, Wide nasal bridge, Bifid nasal tip, Abnormal nasal bone mor... ORPHA:521308
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory distress, Short nose, Dyspnea, Microcephaly, Anteverted nares,... ORPHA:1832
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Stillbirth, Agenesis of corpus callosum OMIM:300073
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Wide nasal bridge, Short nose, Apnea, Depressed nasal bridge, Hypop... OMIM:610015
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Thin corpus callosum, Partial ... OMIM:619517
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Chiari type I malformation, Hypoplasia... OMIM:218350
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... ORPHA:101030
Joubert Syndrome With Ocular Defect
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Apnea, Abnor... ORPHA:220493
Pontocerebellar Hypoplasia, Type 11
Cerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Hypoplasia of the corpus callosum, B... OMIM:617695
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Co... OMIM:619955
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly, Abnormal globus pallidus morphology, Microcephaly, Hypoplasia of the corpus cal... OMIM:618603
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Hypoplasia of the ventral pons, Ventriculomegaly, Abnormal cortical ... ORPHA:2524
Glycine Encephalopathy
Agenesis of corpus callosum OMIM:605899
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Microcephaly, Ce... OMIM:616602
6Q25 Microdeletion Syndrome
Wide nasal bridge, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly ORPHA:251056
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Foxg1 Syndrome
Abnormal respiratory system physiology, Progressive microcephaly, Abnormal corpus callosum morpho... ORPHA:561854
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Prim... ORPHA:500144
Brain Malformations With Or Without Urinary Tract Defects
Ventriculomegaly, Short nose, Chiari type I malformation, Anteverted nares, Hypoplasia of the cor... OMIM:613735
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cer... ORPHA:86822
Joubert Syndrome 23
Apnea, Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea OMIM:616490
Cerebrooculofacioskeletal Syndrome 1
Prominent nose, Ventriculomegaly, Cerebellar hypoplasia, Diffuse cerebral atrophy, Recurrent pneu... OMIM:214150
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Hypoplasia of the brainstem, Ventriculomegaly, ... OMIM:614643
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Wide nasal bridge, Bifid nose, Short colu... OMIM:136760
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Dilated fourth ventricle, Tracheobronchomalacia, Hypoplasia of the brai... OMIM:617751
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the corpus call... OMIM:607131
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly, Cavum septum pellucidum, Partial agenesis of the corpus callosum, Sleep apnea, ... OMIM:619074
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Progressive microcephaly, Depressed nasal bridge, Cerebellar atrophy, Dandy-Walker ma... ORPHA:438178
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Ventriculomegaly, Wide nasal bridge, Lissencephaly, Short nose, Microce... OMIM:243310
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Cerebral atrophy, Cerebe... OMIM:616430
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:615433
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia, Ventriculomegaly, Aqueductal stenosis, Prob... OMIM:619895
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Wide nasal bridge, Short nose, Restrictive ventilatory defect, Diffuse white ma... OMIM:218000
Joubert Syndrome 30
Gray matter heterotopia, Ventriculomegaly, Molar tooth sign on MRI, Apnea, Superior cerebellar dy... OMIM:617622
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Respiratory insufficiency, Abnormal periventricular white matter morphology, Ventriculomegaly, Ce... OMIM:616900
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Absent nares, Aplasia/Hypoplasia involving the nose, Respir... ORPHA:990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Encephalocele, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hy... OMIM:613150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Lateral ventricle dilatation, Thin corpus callosum, Short nose, Broad nasal ti... OMIM:615716
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation, Thin corpus callosum, Short nose, Depr... OMIM:614105
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Prominent nose, Lateral ventricle dilatation, Simpl... OMIM:619244
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Partial a... OMIM:616819
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Wide nasal bridge, Simplified gyral pattern, Short nose, Recurrent pneumonia, M... OMIM:619179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Respiratory insufficiency, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agy... OMIM:253800
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventriculomegaly, Microcephaly, Pachygyria, Agenesis of corpus callosum ORPHA:452
Even-Plus Syndrome
Depressed nasal ridge, Short nose, Bifid nasal tip, Dysplastic corpus callosum, Agenesis of corpu... OMIM:616854
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Retrocerebellar cyst, Gray matter heterotopia, Encephalocele, ... OMIM:603671
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Amish Lethal Microcephaly
Ventriculomegaly, Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebel... ORPHA:99742
Acromelic Frontonasal Dysplasia
Meningocele, Retrocerebellar cyst, Encephalocele, Ventriculomegaly, Bifid nose, Hypoplasia of the... ORPHA:1827
Joubert Syndrome 18
Molar tooth sign on MRI, Arrhinencephaly, Occipital encephalocele, Agenesis of cerebellar vermis,... OMIM:614815
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Ce... OMIM:618476
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Cerebellar hypop... ORPHA:899
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge, Ventriculomegaly, Agenesis of corpus callosum OMIM:175700
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Primary microcephaly, Microcephaly, Anteverted nares, Agenesis of corpus callosum, Cerebellar ver... ORPHA:466688
Weiss-Kruszka Syndrome
Ventriculomegaly, Short nose, Anteverted nares, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:618619
Kleeblattschaedel
Hydrocephalus OMIM:148800
Intellectual Developmental Disorder, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus, Microcephaly, Anteverted nares, Hypoplasia of the corpus callosu... OMIM:616362
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... OMIM:617914
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Mitochondrial Complex I Deficiency, Nuclear Type 16
Agenesis of corpus callosum, Caudate atrophy OMIM:618238
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:238750
Adenylosuccinate Lyase Deficiency
Short nose, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microcephaly ORPHA:46
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Lissencephaly, Depressed nasal bridge, Microcephaly, Hypoplasia of the ... OMIM:618142
Spastic Paraplegia 11, Autosomal Recessive
Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Degeneration of the ... OMIM:604360
Congenital Disorder Of Glycosylation, Type Iu
Cerebellar hypoplasia, Respiratory distress, Short nose, Secondary microcephaly, Cerebral white m... OMIM:615042
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Vici Syndrome
Gray matter heterotopia, Cerebral cortical atrophy, Cerebellar hypoplasia, Hypoplasia of the pons... ORPHA:1493
Microcephaly, Amish Type
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri... OMIM:607196
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum ORPHA:1496
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress, Abnormal corpus striatum morphology ORPHA:238329
17Q21.31 Microduplication Syndrome
Microcephaly, Anteverted nares, Short nose ORPHA:217340
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly, Short nose, Recurrent pneumonia, Microcephaly, Hypoplasia of the corpus callosum ORPHA:1495
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Short columella, Microcephaly, Agenesis of corpus callosum OMIM:619989
Miller-Dieker Syndrome
Cerebral cortical atrophy, Lissencephaly, Short nose, Anteverted nares, Hypoplasia of the corpus ... ORPHA:531
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Ventriculomegaly, Thin corpus callosum, Cerebellar vermis hypoplasia, Sh... OMIM:619775
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Short nose, Anteverted nares, Hypoplasia of the corpus ... ORPHA:228384
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Short nose, Ventriculomegaly, Wide nose ORPHA:217385
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hemisphere hypoplasia, Ventricul... OMIM:615287
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Maternal Uniparental Disomy Of Chromosome X
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum ORPHA:261519
Desmosterolosis
Patent ductus arteriosus, Abnormality of neuronal migration, Abnormal cortical gyration, Ventricu... ORPHA:35107
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Apneic episodes in... ORPHA:3078
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Ventriculomegaly, Wide nasal bridge, Bilateral choanal atresia/stenosis,... ORPHA:314679
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Underdeveloped nasal alae, Encephalocele, Bifid nose, Depressed nasal bridge, Anteverted nares, A... ORPHA:228390
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:453521
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Microcephaly 13, Primary, Autosomal Recessive
Prominent nose, Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Partial ag... OMIM:616051
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Wide nasal bridge, Anteverted nares, Bulbous nose, Agenesis of co... OMIM:619320
Meckel Syndrome 12
Wide nasal bridge, Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Microcephaly, Ant... OMIM:616258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Ce... OMIM:615181
Fumarase Deficiency
Hypoplasia of the brainstem, Open operculum, Depressed nasal bridge, Microcephaly, Cerebral atrop... OMIM:606812
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Alkuraya-Kucinskas Syndrome
Kinked brainstem, Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia ... OMIM:617822
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Neuronal loss in basal ganglia, Ventriculomegaly, Irregular respiration, R... OMIM:604377
Developmental And Epileptic Encephalopathy 73
Hypoplasia of the corpus callosum, Narrow nasal bridge, Microcephaly, Short nose OMIM:618379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Immunodeficiency 95
Respiratory failure, Recurrent viral upper respiratory tract infections, Respiratory distress, Re... OMIM:619773
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Ventriculomegaly, Wide nasal bridge, Lissencephaly, Lobar holopr... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Kinked brainstem, Hypoplasia of the brainstem, Cerebellar dysplasia, Ventriculomegaly, Cerebellar... OMIM:236670
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Agenesis of corpus callosum ORPHA:93267
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Renal tubular epithelial necrosis, Hydrocephalus, Cerebral cal... ORPHA:157
Temtamy Syndrome
Thick corpus callosum, Convex nasal ridge, Ventriculomegaly, Agenesis of corpus callosum OMIM:218340
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Hydrocephalus, Depressed nasal bridge, Sleep apnea, Dandy-Walker mal... ORPHA:459061
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Ventriculomegaly, Short nose, Holoprosencephaly, Depressed nas... ORPHA:261236
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Lateral ventricle dilatation, Hydrocephalus, Respiratory distress, Ante... OMIM:612863
Agnathia-Otocephaly Complex
Wide nose, Respiratory distress, Holoprosencephaly, Tracheomalacia, Agenesis of corpus callosum OMIM:202650
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Depressed nasal bridge, Partial agenesis of the corpus callosum, Microcephaly OMIM:618346
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Perisylvian polymicrogyria, Abnormal septum pellucidum morphology, Hypop... ORPHA:280195
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Patent ductus arteriosus, Cerebellar hypoplasia, Respiratory distress, Short nose, Depressed nasa... OMIM:217980
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Perching Syndrome
Depressed nasal bridge, Respiratory distress OMIM:617055
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Hypoplasia of the brainstem, Simplified gyral pattern, Depressed nasal bridge, Microcephaly, Ante... OMIM:620001
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Microcephaly OMIM:245349
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Chiari malformation, Hydrocephalus, Abnormal septum pellucidum morpholo... ORPHA:171839
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventriculomegaly, Hypoplastic anterior commissure, Choanal atresia, Bul... OMIM:616975
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Underdeveloped nasal alae, Cerebral cortical atrophy, Ventriculomegaly, Thin corpus callosum, Dep... OMIM:619720
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Depressed nasal bridge, Partial agenesis of the corpus callosum, Microcepha... OMIM:619103
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Ventriculomegaly, Cavum septum pellucidum, Wide nasal bridge, Respiratory distress, Short nose, B... OMIM:619383
Trisomy 1Q
Patent ductus arteriosus, Wide nose, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Depr... ORPHA:261344
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Wide nasal bridge, Secondary microcephaly, Narrow nasal bridge, Depressed nasal bridge, Hypoplasi... OMIM:620073
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Ventriculomegaly, Renal tubular epithelial necrosis, Hydroceph... ORPHA:228308
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Respiratory insufficiency, Patent ductus arteriosus, Ventriculomegaly, Microcephaly, Hypoplasia o... OMIM:617260
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Ventriculomegaly, Thin corpus callosum, Periventricular leukomalacia... OMIM:619833
Congenital Disorder Of Glycosylation, Type Iy
Hypoplasia of the corpus callosum, Respiratory distress, Microcephaly OMIM:300934
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Secondary microcephaly, Partial agenesis of the corpus callosum, Long n... OMIM:620113
Stromme Syndrome
Wide nasal bridge, Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Short columella,... OMIM:243605
Edinburgh Malformation Syndrome
Respiratory insufficiency, Abnormality of neuronal migration, Hydrocephalus, Short nose, Antevert... ORPHA:1895
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Depressed nasal bridge, Microcephaly, Bulbous nose, Agenesis of corpus callosum ORPHA:261144
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Ventriculomegaly, Short nose ORPHA:85277
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:182230
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Hydrocephalus, Short nose, Depressed nasa... ORPHA:1812
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Nasal congestion, Abnormality of neuronal migration, Ventriculomegaly,... OMIM:608836
Ring Chromosome 22 Syndrome
Bulbous nose, Pleural effusion, Wide nasal base, Microcephaly, Absent septum pellucidum, Agenesis... ORPHA:1446
Microform Holoprosencephaly
Asthma, Short nose, Midnasal stenosis, Holoprosencephaly, Narrow nasal bridge, Microcephaly, Ante... ORPHA:280200
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Agenesis of corpus callosum, Choanal atresia OMIM:147950
Curry-Jones Syndrome
Hemimegalencephaly, Ventriculomegaly, Occipital meningocele, Megalencephaly, Chiari type I malfor... OMIM:601707
Rhiny
Anteverted nares, Short nose OMIM:180360
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Hypoplasia of t... OMIM:615802
Hydrolethalus
Arrhinencephaly, Anencephaly, Hydrocephalus, Abnormality of the sense of smell, Absent septum pel... ORPHA:2189
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Desmosterolosis
Patent ductus arteriosus, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocepha... OMIM:602398
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Non-Distal Trisomy 10Q
Depressed nasal bridge, Convex nasal ridge, Microcephaly, Short nose ORPHA:1695
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Ventriculomegaly, Recurrent pneumonia, Microcephaly, Cerebral at... OMIM:616449
Beare-Stevenson Cutis Gyrata Syndrome
Choanal stenosis, Ventriculomegaly, Chiari malformation, Hydrocephalus, Respiratory distress, Dep... OMIM:123790
Fanconi Anemia, Complementation Group I
Chiari malformation, Optic nerve hypoplasia, Microcephaly, Absent septum pellucidum, Agenesis of ... OMIM:609053
Marden-Walker Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Inferior cerebel... OMIM:248700
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Cerebral cortical atrophy, Ventriculomegaly, Respiratory distres... OMIM:619272
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the brainstem, Wide nasal bridge, Dandy-Walker malformatio... OMIM:605039
Ritscher-Schinzel Syndrome 4
Wide nasal bridge, Cerebellar hypoplasia, Mild fetal ventriculomegaly, Agenesis of corpus callosu... OMIM:619435
Radio-Tartaglia Syndrome
Gray matter heterotopia, Wide nasal bridge, Prominent nasal tip, Depressed nasal bridge, Microcep... OMIM:619312
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Hypoplasia of the brainstem, Hyperintensity of cerebral white matter on MRI... ORPHA:481152
Braddock-Carey Syndrome 1
Anteverted nares, Wide nasal bridge, Microcephaly, Agenesis of corpus callosum OMIM:619980
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Ventriculomegaly, Cerebellar hypoplasia, Hypodysplasia of the corpus callosum, Cerebra... OMIM:257300
Peho Syndrome
Short nose, Progressive microcephaly, Cerebellar atrophy, Pachygyria, Hypoplasia of the corpus ca... OMIM:260565
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Cerebellar atrophy, Microcephaly, Agenesis of corpus callosum OMIM:616239
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Microcephaly, Anteverted nares, Short nose OMIM:618506
Encephalocraniocutaneous Lipomatosis
Cerebellar hypoplasia, Porencephalic cyst, Hydrocephalus, Dandy-Walker malformation, Cortical dys... OMIM:613001
Holoprosencephaly 7
Hypoplasia of the brainstem, Wide nasal bridge, Absent nasal septal cartilage, Hydrocephalus, Sem... OMIM:610828
Emanuel Syndrome
Patent ductus arteriosus, Ventriculomegaly, Chiari malformation, Hydrocephalus, Dandy-Walker malf... ORPHA:96170
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Apert Syndrome
Respiratory insufficiency, Convex nasal ridge, Ventriculomegaly, Chiari malformation, Hydrocephal... ORPHA:87
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Polymicrogyria OMIM:616974
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Hypoplasia of the brainstem, Wide nasal bridge, Cerebellar hypoplasia, ... OMIM:300749
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventriculomegaly, Cerebellar hypoplasia, Short nose, Depressed nasal br... ORPHA:284169
Curry-Jones Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:1553
Vitamin K Antagonist Embryofetopathy
Respiratory insufficiency, Myelomeningocele, Hydrocephalus, Short nose, Depressed nasal bridge, A... ORPHA:1914
Coffin-Siris Syndrome 11
Bulbous nose, Depressed nasal bridge, Agenesis of corpus callosum OMIM:618779
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Hydrocephalus, Microcephaly, Bulbous nose, Agenesis of corpus callosum OMIM:612940
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Subcortical cerebral atrophy, Ventriculomegaly, Short nose, Microcepha... ORPHA:96147
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Wide nasal bridge, Central sleep apnea, Periventricular leukomalacia, Spin... OMIM:617360
Chromosome 5P13 Duplication Syndrome
Low hanging columella, Bulbous nose, Wide nasal bridge, Agenesis of corpus callosum OMIM:613174
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Encephalocele, Microcephaly, Short nose OMIM:200130
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure OMIM:614399
Encephalopathy Due To Sulfite Oxidase Deficiency
Abnormal pattern of respiration, Microcephaly, Short nose ORPHA:833
1Q44 Microdeletion Syndrome
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short nose, Microcephaly, Anteverted nares, Prominent nasal bridge OMIM:300558
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormality of neuronal migration, Mola... ORPHA:2318
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Ventriculomegaly, Wide nasal bridge, ... OMIM:612651
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus, Respiratory distress, Secondary microcephaly, Depressed nasal bridge, P... OMIM:608799
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Short nose, Narrow nasal bridge, Cerebellar atrophy, Microcephaly, Hypoplas... ORPHA:544503
Nizon-Isidor Syndrome
Depressed nasal bridge, Anteverted nares, Hypoplasia of the corpus callosum, Bulbous nose, Promin... OMIM:618872
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Ventriculomegaly, Short nose, Secondary microcephaly, Progressive microcephaly, Cerebe... OMIM:615851
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Prominent nasal bridge, Agenesis of corpus callosum, Choanal atresia ORPHA:52055
Pallister-Hall-Like Syndrome
Hydrocephalus, Short nose, Depressed nasal bridge, Microcephaly, Chiari type I malformation, Occi... OMIM:241800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Fried Syndrome
Hydrocephalus ORPHA:85335
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Microcephaly ORPHA:26792
Halperin-Birk Syndrome
Ventriculomegaly, Aspiration, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly OMIM:618651
Nabais Sa-De Vries Syndrome, Type 1
Primary microcephaly, Simplified gyral pattern, Short nose, Optic nerve hypoplasia, Depressed nas... OMIM:618828
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Prominent nose, Narrow nasal ridge, Short nose, Depressed nasal bridge,... ORPHA:363528
Pseudotrisomy 13 Syndrome
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Microcephaly, Agenesis of... OMIM:264480
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Mosaic Trisomy 1
Lateral ventricle dilatation, Cerebellar hypoplasia, Wide nasal bridge, Polymicrogyria, Depressed... ORPHA:1692
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Prominent nose, Ventriculomegaly, Abnormal cortical gyration, Cerebella... OMIM:300968
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Short nose, Depressed nasal bridge, Partial agenesis o... OMIM:222448
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Microcephaly, Hypoplasia of the corpus callosum, Short nose OMIM:300887
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Folinic Acid-Responsive Seizures
Apnea, Cerebellar atrophy, Frontotemporal cerebral atrophy, Respiratory distress ORPHA:79097
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Sho... OMIM:616420
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Short nose, Cortical dysplasia, Ant... OMIM:617201
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Thin corpus callosum, Partial agenesis of the corpus callosum OMIM:619653
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Respiratory distress, Agenesis of corpus callosum, Aspiration OMIM:618733
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Depressed nasal bridge, Short nose ORPHA:261120
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Depressed nasal bridge, Dan... OMIM:612582
Intellectual Developmental Disorder, Autosomal Recessive 65
Bulbous nose, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Low han... OMIM:618109
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Aplasia of the nasal bone, Colpocephaly, Chiari malformation, Short nose... OMIM:618820
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Recurrent aspiration pneumonia, Recurrent pneumonia, Prominent nasal br... OMIM:300472
Pierpont Syndrome
Wide nose, Chiari malformation, Short nose, Broad nasal tip, Microcephaly OMIM:602342
Peho Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Porencephalic cyst, Hydrocephalus, Short nose, Micro... ORPHA:2836
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cerebral cortical atrophy, Reduced cerebral white matter volume, Ventr... OMIM:615803
Intellectual Developmental Disorder, Autosomal Dominant 22
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Long nose OMIM:612337
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Agenesis of corpus callosum, Microcephaly, Pachygyria OMIM:617595
Burn-Mckeown Syndrome
Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Short nose ORPHA:1200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Baker-Gordon Syndrome
Sleep apnea, Prominent nasal tip, Short nose OMIM:618218
Microlissencephaly-Micromelia Syndrome
Cerebellar hypoplasia, Respiratory distress, Lissencephaly, Short nose, Secondary microcephaly ORPHA:50810
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Respiratory distress, Wide nasal bridge, Microcephaly ORPHA:261304
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Leigh Syndrome With Cardiomyopathy
Global brain atrophy, Basal ganglia gliosis, Neuronal loss in basal ganglia, Ventriculomegaly, Ab... ORPHA:70474
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Abnormal brainstem morphology, Agyria, Cerebellar vermis hypoplasia, Dysgyria, ... ORPHA:467166
Tetrasomy 5P
Pulmonary arterial hypertension, Wide nasal bridge, Cerebellar hypoplasia, Hydrocephalus, Respira... ORPHA:3309
Slc35A2-Cdg
Lateral ventricle dilatation, Abnormal cerebral white matter morphology, Abnormal midbrain morpho... ORPHA:356961
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress ORPHA:77260
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Stillbirth OMIM:619751
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Global brain atrophy, Cerebral cortical atrophy, Short nose, Progressive microcephaly, Depressed ... OMIM:617802
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Ventriculomegaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcepha... OMIM:301056
Marshall-Smith Syndrome
Ventriculomegaly, Recurrent aspiration pneumonia, Optic nerve hypoplasia, Airway obstruction, Cho... OMIM:602535
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Short nose, Partial agenesis of the corpus callosum, Microcephaly, Ant... OMIM:234050
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Optic nerve hypoplasia, Anosmia, Abs... ORPHA:3157
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventr... OMIM:617296
Joubert Syndrome 7
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... OMIM:611560
Monosomy 13Q34
Prominent nose, Epistaxis, Broad nasal tip, Microcephaly, Prominent nasal bridge, Agenesis of cor... ORPHA:96168
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Dilated fourth ventricle, Dilated third ventricle, Periventricular hete... ORPHA:434179
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Aicardi Syndrome
Gray matter heterotopia, Dilated third ventricle, Chiari malformation, Lateral ventricle dilatati... OMIM:304050
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Chiari malformation, Hydrocephalus, Respiratory distress, Short nose, Depres... ORPHA:93259
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Pleural Mesothelioma
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough ORPHA:50251
Genitopatellar Syndrome
Wide nose, Prominent nose, Apnea, Microcephaly, Prominent nasal bridge, Agenesis of corpus callosum ORPHA:85201
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Depressed nasal bridge, Agenesis of corp... ORPHA:563612
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum ORPHA:139471
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Porencephalic cyst, Arrhinencephaly, Periventricular nodular heterotopia... OMIM:277170
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Encephalocele, Wide nasal bridge, Anencephaly, Agenesis of corpus callo... OMIM:619148
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Hydrocephalus, Agenesis of corpus callosum, Septo-optic dy... ORPHA:3301
Maxillonasal Dysplasia, Binder Type
Short columella, Depressed nasal bridge, Short nose OMIM:155050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Anteverted ... ORPHA:457284
Cryptogenic Organizing Pneumonia
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... ORPHA:1302
Leigh Syndrome
Encephalomalacia, Abnormal dentate nucleus morphology, Neuronal loss in basal ganglia, Abnormal b... ORPHA:506
Coffin-Siris Syndrome
Patent ductus arteriosus, Aspiration pneumonia, Simplified gyral pattern, Dandy-Walker malformati... ORPHA:1465
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Ventriculomegaly, Recurrent aspiration pneumonia, Lateral v... ORPHA:397715
Spondylometaphyseal Dysplasia, Sedaghatian Type
Respiratory insufficiency, Cerebellar hypoplasia, Cardiorespiratory arrest, Pachygyria, Agenesis ... ORPHA:93317
Kleefstra Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Short nose, Dyspnea, Microcephaly, Anteverted nares,... ORPHA:261494
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Wide nasal bridge, Aspiration, Microcephaly, Anteverted nares, A... OMIM:300000
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Dilated third ventricle, Lateral ventricle dilatation, Prominent... ORPHA:464738
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Hydrocephalus, Respiratory distress, Depressed nasal bridge, Meg... OMIM:616482
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Abnormal dentate nucleus morphology, Aqueductal stenosis, Elongated superior cerebellar peduncle,... OMIM:619512
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ventriculomegaly, Sept... ORPHA:59315
Clark-Baraitser Syndrome
Short nose, Depressed nasal bridge, Microcephaly, Anteverted nares, Low hanging columella OMIM:617752
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Aplasia of the nose, Septo-optic dysplasia, Semilobar holoprosencephaly... OMIM:301043
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Narrow nose, Long nose, Prominent nasal bridge, Agenesis of corpus callosum OMIM:309520
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Wide nasal bridge, Thin corpus callosum, Short nose, Depressed nasal br... OMIM:613457
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cerebellar hypoplasia, Short nose, Apnea, Progressive ventriculomegaly, Depressed nasal bridge, C... OMIM:602613
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, Wide nasal bridge, Short nose, Secondary microcephaly, Anteverted nare... OMIM:618437
Odontochondrodysplasia
Patent ductus arteriosus, Depressed nasal bridge, Respiratory distress, Short nose ORPHA:166272
Cebalid Syndrome
Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares, Polymicrogyria OMIM:618774
Thakker-Donnai Syndrome
Anteverted nares, Bulbous nose, Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Plaa-Associated Neurodevelopmental Disorder
Respiratory insufficiency, Leukoencephalopathy, Cerebellar cortical atrophy, Ventriculomegaly, Ab... ORPHA:521426
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Respiratory distress, Sh... ORPHA:329178
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Succinic Acidemia
Respiratory distress OMIM:600335
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Cough, Respiratory failure, T... OMIM:263000
Jaberi-Elahi Syndrome
Cerebellar vermis atrophy, Short nose, Depressed nasal bridge, Microcephaly, Globus pallidus hypo... OMIM:617988
Pyruvate Carboxylase Deficiency
Periventricular cysts, Basal ganglia gliosis, Ventriculomegaly, Hyperintensity of cerebral white ... ORPHA:3008
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Stt3B-Cdg
Cerebellar atrophy, Respiratory distress, Microcephaly ORPHA:370924
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar hypoplasia, Hydrocephalus, Short nose, Depressed nasal bridge, Cerebellar atrophy, Cer... OMIM:618590
Sotos Syndrome
Patent ductus arteriosus, Enlarged naris, Ventriculomegaly, Depressed nasal bridge, Partial agene... OMIM:117550
Tetrasomy 18P
Abnormality of neuronal migration, Microcephaly, Short nose ORPHA:3307
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Respiratory distress, Microcephaly OMIM:615597
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Depressed nasal bridge, Respiratory distress, Wide nasal bridge OMIM:617102
Joubert Syndrome 2
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... OMIM:608091
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Primary microcephaly, Diffuse cerebral atrophy, Short nose, Secondary microcephaly, Hypoplasia of... ORPHA:289266
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Wide nose, Wide nasal bridge, Agenesis of corpus callosum, Narrow nasal... OMIM:614609
Micro Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Abnormal cerebellum morphol... ORPHA:2510
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Agenesis of corpus callosum OMIM:300004
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Opitz Gbbb Syndrome
Patent ductus arteriosus, Ventriculomegaly, Recurrent aspiration pneumonia, Wide nasal bridge, Da... ORPHA:2745
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Semilobar holoprosencephaly, Hypoxemia, Holoprosencephaly, Age... ORPHA:556955
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
8P Inverted Duplication/Deletion Syndrome
Wide nasal bridge, Cerebellar hypoplasia, Agenesis of corpus callosum, Anteverted nares, Dandy-Wa... ORPHA:96092
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal ridge, Short nose, Dimple on nasal tip, Depressed nasal bridge, Bi... ORPHA:1791
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Short nose OMIM:601224
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Wide nasal bridge, Hydrocephalus, Microcephaly, Bulbous nose, Agenesis ... ORPHA:250989
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Patent ductus arteriosus, Cerebral cortical atrophy, Ventriculom... OMIM:618454
Chromosome 6Q11-Q14 Deletion Syndrome
Primary microcephaly, Short nose, Broad nasal tip, Microcephaly, Prominent nasal bridge OMIM:613544
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Short nose ORPHA:2598
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly, Episodic tachypnea, Apnea OMIM:612285
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Bainbridge-Ropers Syndrome
Underdeveloped nasal alae, Choanal stenosis, Lateral ventricle dilatation, Wide nasal bridge, Inf... OMIM:615485
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Bohring-Opitz Syndrome
Ventriculomegaly, Wide nasal bridge, Dandy-Walker malformation, Apnea, Depressed nasal bridge, Mi... ORPHA:97297
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Hypoplasia of the brainstem, Cerebellar hypoplasia, Primary microcephaly, Short nose, ... ORPHA:391408
Fryns Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Wide nasal bridge, Agenesis of corpus callosum, Ante... ORPHA:2059
Orofaciodigital Syndrome I
Underdeveloped nasal alae, Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration,... OMIM:311200
Pomt1-Related Limb-Girdle Muscular Dystrophy R11