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Gene: Tubb2b MGI:1920960

Gene Summary

Name:

tubulin, beta 2B class IIB

Synonyms:

brdp, 2410129E14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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		Tubb2b^em1(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

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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.

Human diseases associated with Tubb2b (5 diseases)
Human diseases predicted to be associated with Tubb2b (1383 diseases)

The table below shows human diseases associated to Tubb2b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp...	OMIM:610031
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Lateral ventricle dilatation, Dysgenesis...	ORPHA:300573
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormality ...	ORPHA:467166
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Polymicrogyria	ORPHA:45358
Dysequilibrium Syndrome		ORPHA:1766

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

Disease	Matching phenotypes	Source
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Ventriculomegaly, Polymicrogyria, Respiratory distress, Agenesis of corpus callosum, Cerebellar h...	ORPHA:171703
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla...	OMIM:604213
Lissencephaly 4	Wide nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary micr...	OMIM:614019
Lissencephaly 3	Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotop...	OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp...	OMIM:610031
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr...	OMIM:614039
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:608716
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o...	OMIM:615771
Microcephaly 17, Primary, Autosomal Recessive	Ventriculomegaly, Hypoplasia of the brainstem, Bulbous nose, Hypoplasia of the corpus callosum, A...	OMIM:617090
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi...	ORPHA:101029
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Lateral ventricle dilatation, Dysgenesis...	ORPHA:300573
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the brainstem, Bulbous nose, Prominent nose, Anteverted nares, Ab...	OMIM:618492
Ventriculomegaly And Arthrogryposis	Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum	OMIM:619501
Joubert Syndrome 30	Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Apnea, Agenesis of corpus callosum, Tachypn...	OMIM:617622
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Hydrocephalus, Abno...	OMIM:617542
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Macrocephaly, Acquired, With Impaired Intellectual Development	Ventriculomegaly, Probst bundles, Narrow nasal bridge, Anteverted nares, Agenesis of corpus callo...	OMIM:618286
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A...	ORPHA:255182
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:619301
Schizophrenia 15	Hyperactivity	OMIM:613950
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, P...	OMIM:619302
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Atrophy/D...	OMIM:620200
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cer...	OMIM:613153
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr...	OMIM:600348
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum	ORPHA:2466
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Ventriculomegaly, Optic nerve hypoplasia, Dysgenesis of the basal g...	ORPHA:171680
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Orofaciodigital Syndrome Xv	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Anteverted nares, Agenesis of ...	OMIM:617127
Developmental And Epileptic Encephalopathy 88	Depressed nasal bridge, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressiv...	OMIM:618959
Cerebrooculofacioskeletal Syndrome 3	Cerebellar hypoplasia, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616570
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Bulbous nose, Anteverted nares, Periventric...	OMIM:616212
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Prominent nose, Periventricular het...	OMIM:616171
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Cerebral hypoplasia, Ventriculomegaly, Cerebellar atrophy, Apnea, Neuronal los...	ORPHA:168486
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum	ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum	ORPHA:401820
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal...	ORPHA:1528
Microlissencephaly	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Periventricular ...	ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainst...	OMIM:618730
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Wide nasal bridge, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	ORPHA:166024
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus c...	ORPHA:85179
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy...	ORPHA:255138
Microcephaly 10, Primary, Autosomal Recessive	Choanal atresia, Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Prom...	OMIM:615095
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum	OMIM:619466
Autosomal Recessive Primary Microcephaly	Ventriculomegaly, Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Micro...	ORPHA:2512
Lissencephaly 9 With Complex Brainstem Malformation	Depressed nasal bridge, Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia...	OMIM:618325
Isolated Corpus Callosum Agenesis	Agenesis of corpus callosum	ORPHA:200
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Lissencephaly Syndrome, Norman-Roberts Type	Wide nasal bridge, Cerebellar atrophy, Respiratory distress, Cerebral calcification, Wide nose, H...	ORPHA:89844
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cereb...	OMIM:304100
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Leukoencephalopathy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventr...	OMIM:620428
Warburg Micro Syndrome 1	Wide nasal bridge, Cerebellar vermis hypoplasia, Cerebral atrophy, Anteverted nares, Hypoplasia o...	OMIM:600118
3Q13 Microdeletion Syndrome	Wide nasal bridge, Anteverted nares, Agenesis of corpus callosum	ORPHA:1621
Masa Syndrome	Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Microhydranencephaly	Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Prominent nasal bridge, Agenesis ...	OMIM:605013
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Primary microcephaly, Simplified gyral pattern	OMIM:616681
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl...	OMIM:600638
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Craniotelencephalic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce...	OMIM:218670
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Hypoplasia of the olfactory bulb, Optic nerve hypoplasia, Lateral v...	ORPHA:300570
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal...	ORPHA:500166
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Peho-Like Syndrome	Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Hypoplasia of the corpus callosum, Progress...	OMIM:617507
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Apneic episodes in infancy, Hydrocepha...	OMIM:619111
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the ...	ORPHA:370959
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, Agenesi...	OMIM:618577
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Depressed nasal bridge, Parietal cortical atrophy, Bulbous nose, Agenesis of corpus callosum, Mic...	OMIM:618766
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephalo...	OMIM:164180
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Hydrolethalus Syndrome 2	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly	OMIM:614120
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Wide nasal bridge, Ventriculomegaly, Cerebral atrophy, Anteverted nares, Basal g...	OMIM:312170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Lissencephaly 7 With Cerebellar Hypoplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Neonatal death, Agyria, Lissenc...	OMIM:616342
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Prominent nose...	OMIM:620317
Gaba-Transaminase Deficiency	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:613163
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic...	ORPHA:79243
Weiss-Kruszka Syndrome	Dysplastic corpus callosum, Prominent nasal tip, Short nose	ORPHA:502430
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Lissencephaly, X-Linked, 2	Wide nasal bridge, Ventriculomegaly, Prominent nasal bridge, Agenesis of corpus callosum, Pachygy...	OMIM:300215
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpu...	OMIM:225790
Combined Oxidative Phosphorylation Deficiency 50	Microcephaly, Partial agenesis of the corpus callosum	OMIM:619025
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha...	OMIM:307000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618736
Spinocerebellar Ataxia 23	Cerebellar atrophy, Agenesis of corpus callosum	OMIM:610245
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Depressed nasal bridge, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum	OMIM:615286
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Aplasia/Hypoplasia of the cerebellum, Pachygyria, Abnormality of the anterior commissure, Thin co...	ORPHA:572013
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Mild fetal ventriculomegaly, Patent ductus arteriosus, Agenesis of corpus callosum	OMIM:610498
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Cerebral hypoplasia, Reduced cerebral white matter volume, Ventriculomegaly, Respiratory distress...	OMIM:617977
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Anteverted nares, Abnorma...	OMIM:613443
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Wide nasal bridge, Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypop...	OMIM:620316
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Joubert Syndrome 3	Wide nasal bridge, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventri...	OMIM:608629
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Prominent nose, Microcephaly, Primary microcephaly, Partial agenesis of th...	OMIM:604804
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Polymicrogyria, Anteverted nares, ...	ORPHA:220497
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Agenesis of corpus callosum,...	OMIM:617669
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr...	ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop...	OMIM:615249
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Imagawa-Matsumoto Syndrome	Agenesis of corpus callosum, Wide nasal ridge, Polymicrogyria	OMIM:618786
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Micr...	OMIM:614833
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Agenesis of corpus callosum	OMIM:274270
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Baraitser-Winter Syndrome 2	Ventriculomegaly, Secondary microcephaly, Agenesis of corpus callosum, Pachygyria, Lissencephaly	OMIM:614583
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Abnormal cerebral cortex morphology, Ventriculomegaly, Thick nasal ...	ORPHA:163961
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Hydrocep...	OMIM:207950
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Abnormal dentate nucleus morphology, Microcephaly, Partial agenesis...	OMIM:619517
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Ventriculomegaly, Hypoplasia of the bra...	ORPHA:2524
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I m...	OMIM:218350
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla...	OMIM:620156
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Dworschak-Punetha Neurodevelopmental Syndrome	Depressed nasal bridge, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Co...	OMIM:619955
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the pons, Bulbous nose, Hypoplasia of the corpus callosum, Agenesis of corpus callo...	OMIM:617695
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, A...	OMIM:618603
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Polymicrogyria, Anteverted nares, ...	ORPHA:220493
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Subependymal Nodular Heterotopia	Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Nasofrontal ...	ORPHA:101030
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Agenesis of corpu...	ORPHA:521308
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
6Q25 Microdeletion Syndrome	Wide nasal bridge, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:251056
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted nares, Apnea,...	OMIM:610015
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Respiratory distress, Anteverted nares, Microcephaly, Dyspnea, Short nose	ORPHA:1832
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocep...	OMIM:615219
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spin...	OMIM:616602
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Pro...	OMIM:619244
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum	ORPHA:2508
Brain Malformations With Or Without Urinary Tract Defects	Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	OMIM:613735
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the optic tract, Hypoplasia of the pon...	ORPHA:500144
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea, Apnea	OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Partial agenesis of the corpus callosum,...	OMIM:614643
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Abnormal basal ganglia mor...	ORPHA:86822
Baraitser-Winter Syndrome 1	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Microcephaly,...	OMIM:243310
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Cranium bifidum occultum, Broad nasal tip, Anterior basal enc...	OMIM:136760
Al-Gazali-Bakalinova Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:607131
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Microcephaly, Thin corpus callo...	OMIM:615716
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Cerebellar atrophy, Progressive microcephaly, Short nose, Dandy-Walker ma...	ORPHA:438178
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Foxg1 Syndrome	Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	ORPHA:561854
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Proboscis, Anteverted nares, Peri...	OMIM:619895
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Encep...	OMIM:613150
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Agenesis of corpus callosum	ORPHA:238722
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia involving the nose, Respiratory distress, Agenesis of corpus callosum, Aplasia...	ORPHA:990
Even-Plus Syndrome	Depressed nasal ridge, Bifid nasal tip, Agenesis of corpus callosum, Dysplastic corpus callosum, ...	OMIM:616854
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Cerebellar atrophy, Basal ganglia calcification, Prominent nose, Prominent nasa...	OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Short nose, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:300887
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Pachygyria, Patent ductus arteriosus	ORPHA:452
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Spina ...	ORPHA:99742
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Anteverted nares, Cerebe...	OMIM:616819
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Alobar holoprosencephaly, Agenesis of corpus callosum	OMIM:615433
Houge-Janssens Syndrome 2	Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	OMIM:616362
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Anteverted nares, Periventric...	OMIM:614105
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Ventriculomegaly, Prominent nasal bridge, Hypoplasia of the corpus callosum, D...	OMIM:619179
Joubert Syndrome 18	Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI, Agenesis of corp...	OMIM:614815
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Weiss-Kruszka Syndrome	Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	OMIM:618619
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ...	OMIM:617751
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microceph...	OMIM:618142
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Microcephaly, Short columella, Agenesis of corpus callosum	OMIM:619989
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Bulbous nose, Cerebral calcification, Periventricular heterotopia, Agenesis of ...	OMIM:618476
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of corpus callosum, Microcephaly, Primar...	ORPHA:466688
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cavum se...	OMIM:619074
4Q21 Microdeletion Syndrome	Cerebellar hypoplasia, Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:238750
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Diffuse white matter abnormalities, Ventriculomegaly, Agenesis of corpus callo...	OMIM:218000
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Bulbous no...	OMIM:616900
Adenylosuccinate Lyase Deficiency	Microcephaly, Anteverted nares, Hypointensity of cerebral white matter on MRI, Short nose	ORPHA:46
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, Frontal cortical atrophy, ...	ORPHA:228384
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	OMIM:175700
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor...	OMIM:617914
Microcephaly, Amish Type	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Pri...	OMIM:607196
Corpus Callosum Agenesis-Neuronopathy Syndrome	Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Cerebellar cyst, Encephalocel...	OMIM:253800
Walker-Warburg Syndrome	Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent septum pellucidum, Agenesis ...	ORPHA:899
Holoprosencephaly 11	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Vici Syndrome	Cerebral cortical atrophy, Hypoplasia of the pons, Depressed nasal tip, Agenesis of corpus callos...	ORPHA:1493
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Spastic Paraplegia 11, Autosomal Recessive	Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Hypoplasia of the co...	OMIM:604360
17Q21.31 Microduplication Syndrome	Microcephaly, Anteverted nares, Short nose	ORPHA:217340
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Short columella, Gray matter hete...	OMIM:619775
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Hypoplasia of the olfactory bulb, Thick nasal...	ORPHA:1827
Miller-Dieker Syndrome	Cerebral cortical atrophy, Anteverted nares, Hypoplasia of the corpus callosum, Short nose, Lisse...	ORPHA:531
17P13.3 Microduplication Syndrome	Ventriculomegaly, Wide nose, Hypoplasia of the corpus callosum, Short nose	ORPHA:217385
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Maternal Uniparental Disomy Of Chromosome X	Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilated fourth ventri...	ORPHA:3078
Developmental And Epileptic Encephalopathy 73	Microcephaly, Narrow nasal bridge, Hypoplasia of the corpus callosum, Short nose	OMIM:618379
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Bulbous nose, Anteverted nares, Agenesis of corpus callosum, Noncommunicating ...	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of...	OMIM:615181
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Encephalocele, Agenesis of c...	ORPHA:228390
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Microcephaly 13, Primary, Autosomal Recessive	Prominent nose, Cerebellar hypoplasia, Microcephaly, Primary microcephaly, Partial agenesis of th...	OMIM:616051
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Abnormal corpus striatum morphology	ORPHA:238329
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Secondary microcephaly, Cerebellar hypoplasia, Cerebral white matter atroph...	OMIM:615042
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lobar hol...	ORPHA:468631
Meckel Syndrome 12	Wide nasal bridge, Cerebral hypoplasia, Anteverted nares, Agenesis of corpus callosum, Cerebellar...	OMIM:616258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Ag...	OMIM:615287
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t...	OMIM:236670
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Desmosterolosis	Depressed nasal bridge, Abnormal cortical gyration, Ventriculomegaly, Abnormality of the nose, Po...	ORPHA:35107
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea	ORPHA:141152
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Abnormal...	ORPHA:261236
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Agenesis of corpus callosum	ORPHA:93267
Temtamy Syndrome	Ventriculomegaly, Thick corpus callosum, Convex nasal ridge, Agenesis of corpus callosum	OMIM:218340
Septopreoptic Holoprosencephaly	Abnormal corpus callosum morphology, Abnormal midbrain morphology, Hypoplasia of the pons, Abnorm...	ORPHA:280195
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Depressed nasal bridge, Microcephaly, Partial agenesis of the corpus callosum	OMIM:618346
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum, Short nose	ORPHA:1495
Fg Syndrome 3	Chiari type I malformation, Agenesis of corpus callosum	OMIM:300406
Agnathia-Otocephaly Complex	Respiratory distress, Holoprosencephaly, Wide nose, Agenesis of corpus callosum	OMIM:202650
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Depressed nasal bridge, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Anteverted nar...	OMIM:620001
Cerebrofacioarticular Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Bilateral choanal atresia/sten...	ORPHA:314679
Perching Syndrome	Respiratory distress, Depressed nasal bridge	OMIM:617055
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebral cortical atrophy, Depressed nasal bridge, Ventriculomegaly, Cerebellar vermis hypoplasia...	OMIM:619720
Alkuraya-Kucinskas Syndrome	Lissencephaly, Depressed nasal bridge, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosu...	OMIM:617822
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Chiari malformation, Cerebral atrophy, Anteverted nares, Short columella,...	ORPHA:171839
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Broad columella, Respiratory d...	OMIM:619383
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Respiratory distress, Probst bundles, Anteverted nares, Agenesis of...	OMIM:612863
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Depressed nasal bridge, Neuronal loss in basal ganglia, Ventriculomegaly, Focal cortical dysplasi...	OMIM:604377
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Partial agenesis of the corpus callosum	OMIM:245349
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Bulbous nose, Hypoplasia of the corpus callosum, Agenesis of corpus callo...	OMIM:620113
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:617113
Trisomy 1Q	Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Hyd...	ORPHA:261344
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Short nose	ORPHA:2015
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Ventriculomegaly, Periventricular heterotopia, Periventricular leukomalac...	OMIM:619833
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Depressed nasal bridge, Cerebellar vermis hypoplasia, Secondary microcephaly, ...	OMIM:620073
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu...	OMIM:620352
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Microcephaly, Hypoplasia of the corpus callosum	OMIM:300934
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Cerebellar atrophy, Focal polymicrogyria, Bulbous nose, Dysplastic corpus...	OMIM:619103
X-Linked Intellectual Disability, Cantagrel Type	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Short nose	ORPHA:85277
Stromme Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Short columella, Prominent nasal bridge, Agenesi...	OMIM:243605
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum	OMIM:182230
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Respiratory distress, Anteverted nares, Agenesis of corpus callosum, Cere...	OMIM:217980
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Agenesis of corpus callosum, Microcephaly, Short nose	ORPHA:261144
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Depressed nasal bridge, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus,...	ORPHA:459061
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus ...	OMIM:615802
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Aplasia/Hypoplasia of the ...	ORPHA:1812
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Choanal atresia, Ventriculomegaly, Hypoplastic anterior commissure, Cerebellar vermis hypoplasia,...	OMIM:616975
Fumarase Deficiency	Depressed nasal bridge, Ventriculomegaly, Open operculum, Cerebral atrophy, Polymicrogyria, Hypop...	OMIM:606812
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morp...	ORPHA:157
Rhiny	Anteverted nares, Short nose	OMIM:180360
Beare-Stevenson Cutis Gyrata Syndrome	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Chiari malformation, Respiratory distr...	OMIM:123790
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Periventricular nodular he...	OMIM:603671
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Curry-Jones Syndrome	Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Chiari type I ...	OMIM:601707
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Non-Distal Duplication 10Q	Depressed nasal bridge, Microcephaly, Convex nasal ridge, Short nose	ORPHA:1695
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Global brain atrophy, Hypoplasia of the brainstem, Bulbous nose, Anteverted nares, Hypoplasia of ...	ORPHA:481152
Desmosterolosis	Hypoplastic nasal bridge, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Anteverted...	OMIM:602398
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Immunodeficiency 95	Respiratory distress, Recurrent viral upper respiratory tract infections	OMIM:619773
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Holoprosencephaly, Alobar holoprosencephaly, Semilob...	OMIM:610828
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Anosmia, Hyposmia, Agenesis of corpus callosum	OMIM:147950
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Cerebral hypoplasia, Ventriculomegaly, Anteverted nares, Agenesis of corp...	OMIM:257300
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Anteverted nares, Agenesis of...	OMIM:248700
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Bulbous nose, Hypoplasia of the corpus...	ORPHA:284169
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia, Mild fetal ventriculomegal...	OMIM:619435
Radio-Tartaglia Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Prominent nasal bridge...	OMIM:619312
Ring Chromosome 22 Syndrome	Wide nasal base, Bulbous nose, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly	ORPHA:1446
Braddock-Carey Syndrome 1	Wide nasal bridge, Microcephaly, Anteverted nares, Agenesis of corpus callosum	OMIM:619980
Fanconi Anemia, Complementation Group I	Chiari malformation, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpoce...	OMIM:609053
Coffin-Siris Syndrome 11	Depressed nasal bridge, Bulbous nose, Agenesis of corpus callosum	OMIM:618779
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Ventriculomegaly, Anteverted nares, Absent septum pellucidum, Agenesis...	ORPHA:96147
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C...	OMIM:617260
Hydrolethalus	Absent septum pellucidum, Abnormality of the sense of smell, Agenesis of corpus callosum, Hydroce...	ORPHA:2189
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha...	OMIM:613001
Peho Syndrome	Cerebellar atrophy, Polymicrogyria, Hypoplasia of the corpus callosum, Progressive microcephaly, ...	OMIM:260565
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Microcephaly, Anteverted nares, Cerebellar atrophy, Short nose	OMIM:618506
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Intracerebral periventricular cal...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Cerebellar atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:616239
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Primary microcephaly, Short nose	OMIM:245570
Curry-Jones Syndrome	Ventriculomegaly, Agenesis of corpus callosum	ORPHA:1553
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of...	OMIM:300749
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Agenesis of corpus callosum	ORPHA:77298
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Microform Holoprosencephaly	Choanal atresia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Agenesis of corpus cal...	ORPHA:280200
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Respiratory di...	OMIM:619272
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Polymicrogyria	OMIM:616974
Cutis Laxa, Autosomal Recessive, Type Iib	Bulbous nose, Agenesis of corpus callosum, Microcephaly, Narrow nasal ridge, Hydrocephalus	OMIM:612940
Toriello-Carey Syndrome	Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, Short nose	OMIM:300558
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Intellectual Developmental Disorder, Autosomal Recessive 65	Bulbous nose, Prominent nasal bridge, Hypoplasia of the corpus callosum, Partial agenesis of the ...	OMIM:618109
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Low hanging columella, Agenesis of corpus callosum	OMIM:613174
1Q44 Microdeletion Syndrome	Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Smith-Kingsmore Syndrome	Depressed nasal bridge, Ventriculomegaly, Reduced cerebral white matter volume, Hemimegalencephal...	OMIM:616638
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Partial agenesis of the corpus callosum, Short nose, Agenesis of corpus callosum	OMIM:620250
Emanuel Syndrome	Ventriculomegaly, Chiari malformation, Cerebral atrophy, Agenesis of corpus callosum, Microcephal...	ORPHA:96170
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Polymicrogyria, Intracerebral periventricular calcifications, Bulbous nose, Nas...	OMIM:608836
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Edinburgh Malformation Syndrome	Choanal atresia, Anteverted nares, Abnormality of neuronal migration, Hydrocephalus, Short nose	ORPHA:1895
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Respiratory distress, Narrow nasal bridge, Hypoplasia of the corpus callosum,...	ORPHA:544503
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Microcephaly, Encephalocele, Convex nasal ridge, Short nose	OMIM:200130
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Ventriculomegaly, Focal polymicrogyria, Depressed nasal tip, Absent septum pel...	OMIM:612651
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Abnormal pattern of respiration, Short nose	ORPHA:833
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Cerebellar atrophy, Hypoplasia of th...	OMIM:616430
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Choanal atresia, Prominent nasal bridge, Patent ductus arteriosus, Agenesis of corpus callosum	ORPHA:52055
Nizon-Isidor Syndrome	Depressed nasal bridge, Bulbous nose, Anteverted nares, Prominent nasal bridge, Hypoplasia of the...	OMIM:618872
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the brainstem, Anteverted nares, Hypopla...	OMIM:605039
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Anteverted nares, Apnea,...	ORPHA:2318
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Ring Chromosome 8 Syndrome	Anteverted nares, Short nose	ORPHA:1450
Congenital Disorder Of Glycosylation, Type Ie	Depressed nasal bridge, Respiratory distress, Secondary microcephaly, Pontocerebellar atrophy, Pa...	OMIM:608799
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Cerebral atrophy, Anteverted nares, Hypoplasia of the corpus callosum, Agenesis...	OMIM:616449
Periventricular Nodular Heterotopia 7	Polymicrogyria, Periventricular nodular heterotopia, Anteverted nares, Hypoplasia of the corpus c...	OMIM:617201
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Occipital encephalocele, Chiari type I malformation, Microcephaly, Hydroc...	OMIM:241800
Fried Syndrome	Hydrocephalus	ORPHA:85335
Leukodystrophy, Hypomyelinating, 10	Cerebral cortical atrophy, Reduced cerebral white matter volume, Cerebral atrophy, Hypoplasia of ...	OMIM:616420
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Prominent nose, Hypoplasia of the corpus callosum, Agenesis of corpus cal...	ORPHA:363528
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the...	OMIM:615851
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Agenesis of corpus callosum, Hydrocephalus, Patent ductus arteriosus, Dan...	OMIM:612582
Muscular Hypertonia, Lethal	Respiratory distress	OMIM:254120
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly	ORPHA:26792
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Cerebellar atrophy, Frontotemporal cerebral atrophy	ORPHA:79097
Intellectual Developmental Disorder, Autosomal Dominant 22	Depressed nasal bridge, Microcephaly, Long nose, Agenesis of corpus callosum	OMIM:612337
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Abnormal cortical gyration, Depressed nasal bridge, Ventricul...	OMIM:300968
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Ventriculomegaly, Chiari malformation, Absent septum pel...	ORPHA:87
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Aplasia/Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:222448
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Mosaic Trisomy 1	Wide nasal bridge, Depressed nasal bridge, Cerebellar vermis hypoplasia, Lateral ventricle dilata...	ORPHA:1692
Pierpont Syndrome	Broad nasal tip, Chiari malformation, Microcephaly, Short nose, Wide nose	OMIM:602342
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Genitourinary And/Or Brain Malformation Syndrome	Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o...	OMIM:618820
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Patent ductus arteriosus, Short nose	ORPHA:261120
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Reduced cerebral white matter vol...	OMIM:615803
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Pseudotrisomy 13 Syndrome	Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, ...	OMIM:264480
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Small cerebral cortex, Bulbous nose, Prominent nasal bridge, Periventricular l...	OMIM:617360
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Peho Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Anteverted nares, Microcephaly, ...	ORPHA:2836
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C...	OMIM:617296
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventriculomegaly, Global brain atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus cal...	OMIM:301056
Slc35A2-Cdg	Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy,...	ORPHA:356961
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormality ...	ORPHA:467166
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly, Wide nasal bridge, Bulbous nose	ORPHA:261304
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Short nose	OMIM:613670
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc...	OMIM:616034
Septo-Optic Dysplasia Spectrum	Anosmia, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebel...	ORPHA:3157
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Secondary microcephaly, Cerebellar hypoplasia, Short nose, Lissencephaly	ORPHA:50810
Trichothiodystrophy 4, Nonphotosensitive	Cerebral cortical atrophy, Anteverted nares, Microcephaly, Partial agenesis of the corpus callosu...	OMIM:234050
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral cortical atrophy, Depressed nasal bridge, Global brain atrophy, Cerebellar atrophy, Cere...	OMIM:617802
Tetrasomy 5P	Wide nasal bridge, Respiratory distress, Anteverted nares, Pericallosal lipoma, Cerebellar hypopl...	ORPHA:3309
Genitopatellar Syndrome	Prominent nose, Apnea, Prominent nasal bridge, Agenesis of corpus callosum, Microcephaly, Wide nose	ORPHA:85201
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	ORPHA:457284
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplasia of the pons, Bulbous nose, Low hanging columella, Agenesis of corpus callosum, Cerebel...	OMIM:619512
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Myelomeningocele, Anteverted nares, Hydrocephalus, Short...	ORPHA:1914
Isolated Exencephaly	Depressed nasal bridge, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corp...	ORPHA:563612
Pfeiffer Syndrome Type 2	Choanal atresia, Depressed nasal bridge, Chiari malformation, Respiratory distress, Hydrocephalus...	ORPHA:93259
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Encephalocele, Agenesis of corpus callosum, Microcephaly, Low...	OMIM:619148
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Septo-optic dysplasia, Aplasia/Hypoplasia involving the nose, Agenesis of corpus c...	ORPHA:3301
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Polymicrogyria, Agenesis ...	OMIM:620305
Monosomy 13Q34	Epistaxis, Broad nasal tip, Prominent nose, Prominent nasal bridge, Agenesis of corpus callosum, ...	ORPHA:96168
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Low hanging columella, Short nose	OMIM:617752
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Optic nerve hypoplasia, Bulbous nose, Prominent nasal bridge, Primary mic...	OMIM:618828
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:139471
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Short nose	OMIM:155050
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:613457
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Halperin-Birk Syndrome	Ventriculomegaly, Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum	OMIM:618651
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Stillbirth	OMIM:619751
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Polymicrogyria, Anteverted nares, Short nose	OMIM:618774
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Cerebral cortical atrophy, Secondary microcephaly, Anteverted nares, Hypoplasi...	OMIM:618437
Kleefstra Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Micro...	ORPHA:261494
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Broad nasal tip, Polymicrogyria, Periventricular nodular heterotopi...	OMIM:277170
Coffin-Siris Syndrome 4	Wide nasal bridge, Depressed nasal bridge, Thick nasal alae, Narrow nasal bridge, Anteverted nare...	OMIM:614609
Cadds	Ventriculomegaly, Abnormal cerebral white matter morphology, Short nose, Cerebellar atrophy	ORPHA:369942
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Choanal atresia, Prominent nasal bridge, Patent ductus arteriosus, Agenesis of corpus callosum	OMIM:300472
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Primary micr...	ORPHA:289266
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:301043
Odontochondrodysplasia	Respiratory distress, Depressed nasal bridge, Patent ductus arteriosus, Short nose	ORPHA:166272
Rhombencephalosynapsis	Ventriculomegaly, Anteverted nares, Fusion of the cerebellar hemispheres, Abnormal dentate nucleu...	ORPHA:59315
Joubert Syndrome 7	Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Episodic tachypnea, Brainstem d...	OMIM:611560
Sotos Syndrome	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Enlarged naris, Anteverted nares, Cavu...	OMIM:117550
Congenital Myopathy 10A, Severe Variant	Respiratory distress	OMIM:614399
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Aicardi Syndrome	Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil...	OMIM:304050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nose, Narrow nasal bridge, Prominent nasal bridge, Agenesis of corpus callosum, Long nose	OMIM:309520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal corpus callosum morphology, Depressed nasal bridge, Ventriculomegaly, Dilated third vent...	ORPHA:397715
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Ce...	ORPHA:329178
Leigh Syndrome	Diffuse spongiform leukoencephalopathy, Neuronal loss in basal ganglia, Cerebellar atrophy, Abnor...	ORPHA:506
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Thakker-Donnai Syndrome	Bulbous nose, Anteverted nares, Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Pyruvate Carboxylase Deficiency	Ventriculomegaly, Abnormal pattern of respiration, Increased caudate lactate level, Periventricul...	ORPHA:3008
Succinic Acidemia	Respiratory distress	OMIM:600335
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration	ORPHA:77260
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Depressed nasal bridge, Hypoplasia of the corpus callosum, Wide nasal bridge	OMIM:617102
Jaberi-Elahi Syndrome	Depressed nasal bridge, Cerebellar vermis atrophy, Hypoplasia of the corpus callosum, Microcephal...	OMIM:617988
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Bulbous nose, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Patent...	ORPHA:250989
Plaa-Associated Neurodevelopmental Disorder	Leukoencephalopathy, Abnormal cortical gyration, Ventriculomegaly, Apnea, Hypoplasia of the corpu...	ORPHA:521426
Stt3B-Cdg	Respiratory distress, Microcephaly, Cerebellar atrophy	ORPHA:370924
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Ventriculomegaly, Basal ganglia calcification, Cerebral calcificati...	OMIM:617281
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Microcephaly, Agenesis of corpus callosum	OMIM:300004
Birk-Landau-Perez Syndrome	Pachygyria, Microcephaly, Agenesis of corpus callosum	OMIM:617595
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly, Short nose	ORPHA:3307
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Hypop...	OMIM:618590
Micro Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of...	ORPHA:2510
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Anteverted nares, Hypopl...	ORPHA:464738
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Microcephaly, Cerebellar atrophy	OMIM:615597
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Frontofacionasal Dysplasia	Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Encephalocele, H...	ORPHA:1791
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Open operculum, Bulbous nose, Dilated fourth ventricle, Periventricular ...	ORPHA:434179
Joubert Syndrome 2	Abnormal corpus callosum morphology, Depressed nasal bridge, Enlarged fossa interpeduncularis, Dy...	OMIM:608091
Marshall-Smith Syndrome	Choanal atresia, Recurrent upper respiratory tract infections, Depressed nasal bridge, Ventriculo...	OMIM:602535
8P Inverted Duplication/Deletion Syndrome	Wide nasal bridge, Anteverted nares, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Wa...	ORPHA:96092
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Bainbridge-Ropers Syndrome	Wide nasal bridge, Depressed nasal bridge, Inferior cerebellar vermis hypoplasia, Broad nasal tip...	OMIM:615485
Orofaciodigital Syndrome I	Wide nasal bridge, Abnormal cortical gyration, Cerebral atrophy, Underdeveloped nasal alae, Myelo...	OMIM:311200
Potocki-Shaffer Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Short nose	OMIM:601224
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Respiratory distress, Hypoplasia of the corpus callosum, Neonatal death, ...	OMIM:616482
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Opitz Gbbb Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of corpus callosum, M...	OMIM:300000
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoplasia of the brainstem, Anteverted nares, Hypoplasia of the corpus callosum, Cerebellar hypo...	ORPHA:391408
Fryns Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Anteverted nares, Agenesis of cor...	ORPHA:2059
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Short nose	ORPHA:2598
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Prominent nasal bridge, Microcephaly, Primary microcephaly, Short nose	OMIM:613544
Acrocephalopolydactyly	Depressed nasal ridge, Short nose	ORPHA:221054
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Globus pallidus calcification, Short nose	OMIM:620292
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose	ORPHA:2370
Warburg Micro Syndrome 3	Cerebral cortical atrophy, Ventriculomegaly, Polymicrogyria, Secondary microcephaly, Hypoplasia o...	OMIM:614222
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Apnea, Hypoplasia ...	ORPHA:97297
Malaria	Respiratory distress	ORPHA:673
Distal Deletion 10Q	Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Prominent...	ORPHA:96148
Pfeiffer Syndrome Type 3	Choanal atresia, Depressed nasal bridge, Chiari malformation, Respiratory distress, Aqueductal st...	ORPHA:93260
Apert Syndrome	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Absent septum pellucidum, Agenesis of ...	OMIM:101200
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:614924
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Cerebral cortical atrophy, Depressed nasal bridge, Ventriculomegaly, Cerebella...	OMIM:618454
Microcephaly-Capillary Malformation Syndrome	Cerebral atrophy, Wide nose, Hypoplasia of the corpus callosum, Progressive microcephaly, Short n...	OMIM:614261
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Hydrocephalus, Short nose	ORPHA:2701
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Abnormality of neuronal migration, A...	ORPHA:7
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Short nose	ORPHA:1529
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Microcephaly, Dyspnea	ORPHA:86812
Kapur-Toriello Syndrome	Polymicrogyria, Bulbous nose, Dysplastic corpus callosum, Pachygyria, Patent ductus arteriosus	ORPHA:2328
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hy...	OMIM:611134
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Microcephaly, Short nose	OMIM:616910
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Immunodeficiency 49	Reduced cerebral white matter volume, Agenesis of corpus callosum	OMIM:617237
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Enlarged c...	ORPHA:261552
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cerebral cortical atrophy, Abnormal cortical gyration, Cessation of head growth, Ventriculomegaly...	OMIM:617527
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Semilobar holoprosencephaly, Absent septum pellucidum, Hypoplasia of the ...	OMIM:618500
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Prominent nasal bridge, Microcephaly, Short nose	ORPHA:2083
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Microcephaly, Short nose	OMIM:615419
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Hypoplasia of olfactory tract, Encephalocele, Agenesis of corpus ca...	ORPHA:314621
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Xp21 Deletion Syndrome	Apneic episodes in infancy, Agenesis of corpus callosum	ORPHA:261476
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Cerebellar hypoplasia, Depressed nasal ridge, Hydrocephalus, Short nose	ORPHA:163966
Isolated Atp Synthase Deficiency	Respiratory distress, Cerebral cortical atrophy, Cerebellar atrophy, Microcephaly	ORPHA:254913
Opitz Gbbb Syndrome	Abnormal corpus callosum morphology, Wide nasal bridge, Ventriculomegaly, Anteverted nares, Hypop...	ORPHA:2745
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Microcephaly, Short nasal septum, Short nose	OMIM:302950
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Encephalocele, Microcephaly, Short nose	OMIM:613885
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Concave nasal ridge	OMIM:245590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Choanal atresia, Dyspnea, Wide nasal bridge	ORPHA:2759
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Polymicrogyria, Cerebellar vermis atrophy, Agenesis of corpus callosum, Cereb...	OMIM:614866
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Cerebellar hypoplasia, Microcephaly, Short...	OMIM:616897
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Polymicrogyria, Anteverted nares, Cerebellar hypoplasia, Progressive microcephal...	ORPHA:357074
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal external nose morphology, Holoprosencephaly, Semilobar holoprosencephaly, Agenesis of co...	ORPHA:556955
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Ventriculomegaly, Respiratory distress, Anteverted nares, Apnea, Neonatal...	OMIM:608013
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Moebius Syndrome	Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Hypoplasia of the ...	OMIM:157900
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Broad nasal tip, Lateral ventricle dilatation, Respiratory distress, P...	ORPHA:177907
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Microcephaly, Short nose, Bulbous nose	OMIM:611936
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Chitayat Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella	OMIM:617180
Femoral-Facial Syndrome	Ventriculomegaly, Short nose, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1988
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Midline defect of the nose, Absent septum pellucidum, Agenesis of cor...	OMIM:236680
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Periventricular heterotopi...	OMIM:615948
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Absent septum pellucidum, Short nose, Agenesis of corpus callosum	ORPHA:3339
Gomez-Lopez-Hernandez Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Fusion of the cerebellar hemispheres, Rhombenceph...	OMIM:601853
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Abnormal cerebral white matter...	ORPHA:457279
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Ventriculomegaly, Apnea, Molar tooth sign on MRI, Gray matter heterotopia	OMIM:617563
Achondroplasia	Depressed nasal bridge, Brain stem compression, Respiratory distress, Choanal stenosis, Hydroceph...	OMIM:100800
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Corticospinal tract hypoplasia, Apla...	ORPHA:819
Trigonocephaly 1	Wide nasal bridge, Microcephaly, Short nose	OMIM:190440
Pleural Mesothelioma	Respiratory distress, Dyspnea	ORPHA:50251
Chung-Jansen Syndrome	Anteverted nares, Short nose	OMIM:617991
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602501
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Prominent nose, Anteverted nares, Chiari type I malfor...	OMIM:618316
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Anteverted nares, Microcephaly, Spina bifida, Short nose	ORPHA:1327
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Cerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:93317
Alfadhel Syndrome	Microcephaly, Nasal flaring, Bulbous nose	OMIM:620655
Perlman Syndrome	Wide nasal bridge, Anteverted nares, Short nose	ORPHA:2849
Familial Nasal Acilia	Respiratory distress, Recurrent upper respiratory tract infections, Dyspnea, Chronic rhinitis	ORPHA:922
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Anteverted nares	ORPHA:420794
Mycophenolate Mofetil Embryopathy	Bifid nose, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Polymicrogyria, Respiratory distress, Short nose	OMIM:608022
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress	ORPHA:254875
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Hyperparathyroidism, Transient Neonatal	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Respiratory distress, Anteverted nar...	OMIM:618188
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections	OMIM:263000
Lowry-Maclean Syndrome	Choanal atresia, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Convex n...	ORPHA:2409
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Holoprosencephaly 9	Choanal atresia, Abnormal cortical gyration, Broad nasal tip, Depressed nasal bridge, Single nari...	OMIM:610829
Laryngomalacia	Respiratory distress	OMIM:150280
Mosaic Trisomy 8	Anteverted nares, Broad nasal tip, Wide nose, Agenesis of corpus callosum	ORPHA:96061
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Cerebral hypoplasia, Lateral ventricle ...	OMIM:210710
9q subtelomeric deletion syndrome	Microcephaly, Anteverted nares, Short nose	DECIPHER:52
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Cerebellar hypoplasia, Microcephaly, Cerebellar vermis atrophy, Short nose	OMIM:618087
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Choanal atresia, Ventriculomegaly, Agenesis of corpus callosum, Dyspla...	OMIM:151050
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Microcephaly,...	OMIM:608776
Malan Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Short nose	OMIM:614753
Harel-Yoon Syndrome	Cerebellar atrophy, Short nose	OMIM:617183
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary microceph...	OMIM:619306
15Q Overgrowth Syndrome	Wide nasal bridge, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:314585
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the corpus callosum, A...	OMIM:619418
Cutis Laxa, Autosomal Recessive, Type Iia	Polymicrogyria, Anteverted nares, Microcephaly, Dandy-Walker malformation, Pachygyria, Short nose	OMIM:219200
Marshall-Smith Syndrome	Choanal atresia, Ventriculomegaly, Anteverted nares, Cerebellar hypoplasia, Short nose	ORPHA:561
Meckel Syndrome, Type 1	Cerebral hypoplasia, Ventriculomegaly, Occipital encephalocele, Chiari malformation, Enlarged nar...	OMIM:249000
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal periventricular white matter morphology	ORPHA:1145
Alobar Holoprosencephaly	Depressed nasal ridge, Abnormal pattern of respiration, Proboscis, Abnormal brainstem morphology,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Abnormal pattern of respiration, Proboscis, Abnormal brainstem morphology,...	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Abnormal pattern of respiration, Proboscis, Abnormal brainstem morphology,...	ORPHA:93924
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Semilobar Holoprosencephaly	Depressed nasal ridge, Abnormal pattern of respiration, Proboscis, Abnormal brainstem morphology,...	ORPHA:220386
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus	ORPHA:272
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Microcephaly, Cerebral atrophy	OMIM:250940
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Chiari malformation, Choanal stenosis, Hydrocephalus, Sh...	OMIM:101600
Jacobsen Syndrome	Wide nasal bridge, Ventriculomegaly, Broad columella, Cerebral atrophy, Anteverted nares, Agenesi...	ORPHA:2308
Alexander Disease	Cerebral calcification, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Megalenc...	ORPHA:58
Neu-Laxova Syndrome 1	Depressed nasal ridge, Hydranencephaly, Ventriculomegaly, Stillbirth, Agenesis of corpus callosum...	OMIM:256520
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Short nose	OMIM:618961
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea	ORPHA:70589
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Short nose	OMIM:613604
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Respiratory distress, Anteverted nares, Apnea, Hypoventilation, Short nose	ORPHA:314655
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Dysgenesis of the cerebellar vermis,...	OMIM:619479
Donnai-Barrow Syndrome	Depressed nasal bridge, Short nose, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2143
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Cerebral atrophy, Anteverted nares, Microcephaly, Short nose,...	OMIM:615583
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy	OMIM:620306
Holoprosencephaly 1	Alobar holoprosencephaly, Proboscis, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcep...	OMIM:236100
21Q22.11Q22.12 Microdeletion Syndrome	Microcephaly, Bulbous nose, Anteverted nares, Agenesis of corpus callosum	ORPHA:261323
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Encephalocraniocutaneous Lipomatosis	Cerebral cortical atrophy, Ventriculomegaly, Cerebral atrophy, Cerebral calcification, Absent sep...	ORPHA:2396
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Abnormal pyramidal tract morphology, Cerebral atrophy, Short nose	OMIM:256600
Aicardi Syndrome	Ventriculomegaly, Polymicrogyria, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Pachygyria,...	ORPHA:50
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ventriculomegaly	OMIM:620166
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Respiratory distress, Anteverted nares, Microcephaly, Progressive microcephaly, ...	OMIM:610536
Cerebrofaciothoracic Dysplasia	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Hypoplasia of the corp...	ORPHA:1394
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Anteverted n...	ORPHA:438216
Vici Syndrome	Depressed nasal bridge, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, ...	OMIM:242840
Opitz-Kaveggia Syndrome	Choanal atresia, Prominent nose, Hydrocephalus, Gray matter heterotopia, Partial agenesis of the ...	OMIM:305450
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Proboscis, Anteverted nares, Prominent nasal brid...	OMIM:605627
Fructose-1,6-Bisphosphatase Deficiency	Ventriculomegaly, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic...	ORPHA:348
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Warburg Micro Syndrome 2	Global brain atrophy, Polymicrogyria, Secondary microcephaly, Prominent nasal bridge, Hypoplasia ...	OMIM:614225
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Agenesis ...	ORPHA:264450
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Hydrocephalus, Short nose	OMIM:300863
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Microcephaly, Anteverted nares, Short nose	OMIM:619356
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Cerebellar atrophy, Cerebral atrophy, Anteverted nares, Cerebellar hypopl...	OMIM:615398
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Thanatophoric Dysplasia Type 2	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele	ORPHA:93274
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus	OMIM:309801
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Recurrent upper respiratory tract infections	ORPHA:60032
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Anteverted nares, Meningocele, Short nose	ORPHA:2031
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Depressed nasal bridge, Neonatal death, Pachygyria	OMIM:231680
Melanocytic Nevus Syndrome, Congenital	Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:137550
Histiocytoid Cardiomyopathy	Cerebellar malformation, Tachypnea, Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Prominent nasolabial fold, Short nose	ORPHA:391372
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Narrow nasal bridge, Short nose	ORPHA:1514
Episodic Ataxia Type 1	Respiratory distress, Cerebellar atrophy	ORPHA:37612
Craniofrontonasal Syndrome	Wide nasal bridge, Bifid nasal tip, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	OMIM:304110
Japanese Encephalitis	Abnormal midbrain morphology, Abnormality of the internal capsule, Abnormal pattern of respiratio...	ORPHA:79139
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Ventriculomegaly, Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasi...	OMIM:616546
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Midline brain calcifications, Pachygyria, Short nose, Anteverted nares, Hypopl...	OMIM:247200
Pterygium Colli, Isolated	Short nose	OMIM:177990
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cerebral cortical atrophy, Depressed nasal ridge, Anteverted nares, Agenesis of corpus callosum, ...	ORPHA:847
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Cerebellar atrophy, Underdeveloped nasal alae, Hypoplasia of the brainstem, Mi...	OMIM:193700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Anteverted nares, Tachypnea, Short nose, Wide nose	OMIM:613320
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Choanal atresia, Depressed nasal bridge, Respiratory distress, Anteverted nares, Hydrocephalus	ORPHA:1555
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus	OMIM:601794
Brain-Lung-Thyroid Syndrome	Respiratory distress, Microcephaly, Cavum septum pellucidum, Agenesis of corpus callosum	ORPHA:209905
Fetal Trimethadione Syndrome	Depressed nasal bridge, Microcephaly, Short nose	ORPHA:1913
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Microcephaly, Lobar holoprosencephaly, Sho...	OMIM:614701
Molybdenum Cofactor Deficiency, Type B	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Neonatal death, Diffuse ce...	OMIM:252160
Spinocerebellar Ataxia-Dysmorphism Syndrome	Spina bifida occulta, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Short nose	ORPHA:1185
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Patent ductus arteriosus after premature birth, M...	OMIM:618460
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Cerebral calcification, Anteverted nares, Microcephaly, Aplasia/Hypoplasia of t...	ORPHA:1358
14Q22Q23 Microdeletion Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Agenesis of corpus callosum	ORPHA:264200
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Microcephaly	ORPHA:927
X-Linked Centronuclear Myopathy	Respiratory distress	ORPHA:596
Hartsfield Syndrome	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:615465
Distal Duplication 18Q	Choanal atresia, Anteverted nares, Prominent nasal bridge, Short nose	ORPHA:1716
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Patent ductus arteriosus, Short nose	OMIM:613870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
Adenylosuccinase Deficiency	Cerebellar atrophy, Cerebral atrophy, Anteverted nares, Microcephaly, Short nose	OMIM:103050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Hypoplasia of the corpus callosum, Microcephaly, Dandy-Walker...	OMIM:614207
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Ventriculomegaly, Short columella, Microcephaly, Hydrocephalus, Short nose, Me...	OMIM:613603
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Abnormal midbrain morphology, Ventriculomegaly, Inferior cerebellar vermis hyp...	ORPHA:444072
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Bulbous nose, Microcephaly	OMIM:616271
Al-Raqad Syndrome	Microcephaly, Short nose	OMIM:616459
Genitopatellar Syndrome	Wide nasal bridge, Prominent nose, Prominent nasal bridge, Periventricular heterotopia, Agenesis ...	OMIM:606170
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Choanal atresia, Abnormal cortical gyration, Wide nasal bridge, Flared nostrils,...	ORPHA:480880
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Underdeveloped nasal alae, Pericallosal lipoma, Agen...	ORPHA:306542
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Microcephaly, Patent ductus arteriosus, ...	OMIM:617061
Orofaciodigital Syndrome Type 5	Microcephaly, Agenesis of corpus callosum	ORPHA:2919
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Short nose, Optic nerve hypoplasia	ORPHA:496790
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Osteopathia Striata With Cranial Sclerosis	Wide nasal bridge, Apnea, Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus cal...	OMIM:300373
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Koolen-De Vries Syndrome Due To A Point Mutation	Wide nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, P...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Wide nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, P...	ORPHA:363958
Tularemia	Respiratory distress, Abnormal nasopharyngeal adenoid morphology	ORPHA:3392
Marden-Walker Syndrome	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydro...	ORPHA:2461
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Periventricular leukomalacia, Hypopl...	OMIM:617140
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Nocturnal hypoventilation, Hypopla...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Nocturnal hypoventilation, Hypopla...	ORPHA:352665
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Wide nasal bridge, Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corpus callo...	ORPHA:508498
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Cerebral atrophy, Short nose	OMIM:615539
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Short nose	OMIM:619736
Trichothiodystrophy	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly, Periventricular leukomal...	ORPHA:33364
Perlman Syndrome	Wide nasal bridge, Depressed nasal bridge, Agenesis of corpus callosum	OMIM:267000
Ramos-Arroyo Syndrome	Depressed nasal bridge, Respiratory distress, Anteverted nares, Choanal stenosis, Deviated nasal ...	ORPHA:1051
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Respiratory distress, Progressive microcephaly, Pat...	OMIM:607143
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Microcephaly, Short nose	OMIM:614749
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Mucopolysaccharidosis-Plus Syndrome	Wide nasal bridge, Respiratory distress, Cerebral calcification, Microcephaly, Patent ductus arte...	OMIM:617303
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Global brain atrophy, Cerebellar atrophy, Anteverted n...	OMIM:270400
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Pate...	OMIM:227646
Craniofaciofrontodigital Syndrome	Depressed nasal bridge, Respiratory distress, Hyperintensity of cerebral white matter on MRI, Dys...	ORPHA:363705
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly	ORPHA:1908
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Bulbous nose, Depressed nasal bridge, Short nose	ORPHA:369891
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Respiratory distress, Absent septum pellucidum, Agenesis of corpus callosum, M...	ORPHA:2556
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Aqueductal stenosis, Short nose	ORPHA:93258
Phosphoribosylaminoimidazole Carboxylase Deficiency	Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Anteverted nares, Neonatal de...	OMIM:619859
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Cerebral cortical atrophy, Broad nasal tip, Hydrocephalus, Short nose	OMIM:239300
Achondrogenesis	Anteverted nares, Short nose	ORPHA:932
Myotonic Dystrophy 1	Respiratory distress, Cerebral atrophy	OMIM:160900
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus callosum	ORPHA:2519
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Adult Krabbe Disease	Abnormal corpus callosum morphology, Abnormal midbrain morphology, Abnormal medulla oblongata mor...	ORPHA:206448
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Hypoplasia of the frontal lobes, Chiari type I malforma...	ORPHA:357001
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Cerebral cortical atrophy, Broad columella, Progressive microcephaly, Sho...	OMIM:617865
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Short nose, Wide nose	ORPHA:2831
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Microcephaly, Long nose, Low...	OMIM:615866
Achondrogenesis Type 1B	Anteverted nares, Short nose	ORPHA:93298
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal cerebral cortex morphology, Progressive ventr...	ORPHA:500150
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cerebellar cyst, Agenesis of corpus callosum	OMIM:613091
Monosomy 9P	Depressed nasal bridge, Choanal atresia, Anteverted nares, Agenesis of corpus callosum, Microceph...	ORPHA:261112
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Cerebellar vermis hypoplasia, Secondary microcephaly, Bulbous nose, Promin...	OMIM:156200
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology	ORPHA:330021
Orofaciodigital Syndrome V	Microcephaly, Agenesis of corpus callosum	OMIM:174300
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Short nose	ORPHA:2547
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Broad nasal tip, Nasal congestion, Thick nasal alae, Short columella, Tach...	ORPHA:79345
Chilton-Okur-Chung Neurodevelopmental Syndrome	Epistaxis, Depressed nasal bridge, Broad nasal tip, Cerebellar vermis hypoplasia, Anteverted nare...	OMIM:619841
Achondrogenesis Type 1A	Anteverted nares, Short nose	ORPHA:93299
Temple Syndrome	Hydrocephalus	ORPHA:254516
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea	OMIM:614299
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Short nose	ORPHA:2145
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge	ORPHA:226313
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Short nose	ORPHA:401935
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Short nose	OMIM:614078
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Dyspnea, Abnormal cerebellum morphology	OMIM:211530
Mogs-Cdg	Respiratory distress, Apnea, Hypoventilation, Hypoplasia of the corpus callosum, Wide nose	ORPHA:79330
Chromosome 13Q14 Deletion Syndrome	Bulbous nose, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus cal...	OMIM:613884
Non-Distal Duplication 13Q	Microcephaly, Short nose	ORPHA:1702
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus	ORPHA:2655
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
Restrictive Dermopathy 2	Respiratory distress, Convex nasal ridge	OMIM:619793
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614613
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea	ORPHA:178320
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Short nose	ORPHA:210548
Heterotaxy, Visceral, 2, Autosomal	Microcephaly, Agenesis of corpus callosum	OMIM:605376
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Nasal congestion, Episodic respiratory distress, Dev...	ORPHA:141083
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Wide nasal bridge, Broad nasal tip, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:619194
Dermotrichic Syndrome	Depressed nasal bridge, Short nose	ORPHA:99688
Fryns Syndrome	Wide nasal bridge, Hypoplasia of the optic tract, Anteverted nares, Hypoplasia of olfactory tract...	OMIM:229850
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:609757
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Nasal polyposis	OMIM:606763
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose	ORPHA:1458
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Depressed nasal bridge	OMIM:617895
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Myoectodermal Gonadal Dysgenesis Syndrome	Convex nasal ridge, Underdeveloped nasal alae, Agenesis of corpus callosum	OMIM:618419
Phace Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Dandy-Walker malformation, Opti...	ORPHA:42775
Microphthalmia, Syndromic 3	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Patent ductus arter...	OMIM:206900
Melas	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcifi...	ORPHA:550
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Microcephaly, Dyspnea	ORPHA:2707
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:615630
Arachnoiditis	Hydrocephalus	ORPHA:137817
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Wide nasal bridge, Broad nasal tip, Spina bifida, Partial agenesis of the corpus callosum, Thin c...	OMIM:619480
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Aplasia of the nasal bone, Agen...	OMIM:157170
Stickler Syndrome Type 1	Short nose	ORPHA:90653
Orofaciodigital Syndrome Type 1	Wide nasal bridge, Choanal atresia, Underdeveloped nasal alae, Agenesis of corpus callosum, Dandy...	ORPHA:2750
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:249620
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Lathosterolosis	Chiari malformation, Bulbous nose, Cerebral calcification, Anteverted nares, Microcephaly, Cerebe...	ORPHA:46059
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Bulbous nose, Short nose	OMIM:618430
Infantile Krabbe Disease	Respiratory distress, Abnormal periventricular white matter morphology, Hypointensity of cerebral...	ORPHA:206436
White-Kernohan Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Dysplastic corpus callosum, ...	OMIM:619426
Bcard Syndrome	Ventriculomegaly, Porencephalic cyst, Anteverted nares, Short nose	OMIM:612394
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea, Short nose	ORPHA:1129
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly...	OMIM:608779
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Waardenburg Syndrome Type 1	Wide nasal bridge, Underdeveloped nasal alae, Spina bifida, Meningocele, Short nose	ORPHA:894
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Choanal atresia, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2658
Aymé-Gripp Syndrome	Depressed nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus cal...	ORPHA:1272
Adnp Syndrome	Depressed nasal bridge, Recurrent upper respiratory tract infections, Ventriculomegaly, Cerebral ...	ORPHA:404448
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Mowat-Wilson Syndrome	Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Wide nasal ...	OMIM:235730
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Monosomy 22Q13.3	Wide nasal bridge, Bulbous nose, Cerebellar cortical atrophy, Agenesis of corpus callosum	ORPHA:48652
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Cerebral calcification, Hydrocephalus, Patent ductus arteriosus, Short nose	ORPHA:505248
Isolated Arrhinia	Underdeveloped nasal alae, Respiratory distress, Midline defect of the nose, Aplasia/Hypoplasia o...	ORPHA:1134
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology	OMIM:251000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:163649
Baller-Gerold Syndrome	Chiari malformation, Underdeveloped nasal alae, Polymicrogyria, Prominent nasal bridge, Agenesis ...	OMIM:218600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Depressed nasal bridge, Stillbirth	OMIM:151210
Ring Chromosome 13 Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Agenesis of corpus callosum, Microce...	ORPHA:96176
Cardiofaciocutaneous Syndrome 1	Cerebral cortical atrophy, Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Bul...	OMIM:115150
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea	ORPHA:142
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Cerebral calcification, Neonatal death, Microcephaly, Ch...	OMIM:259775
Mgat2-Cdg	Respiratory distress, Progressive microcephaly, Convex nasal ridge, Low hanging columella, Patent...	ORPHA:79329
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Depressed nasal bridge, Optic nerve hypoplasia, Abnormal cerebellum morphology, Agenesis of corpu...	ORPHA:226307
Ruvalcaba Syndrome	Microcephaly, Convex nasal ridge, Short nose	ORPHA:3121
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Tetrasomy 12P	Anteverted nares, Short nose	ORPHA:884
Odontochondrodysplasia 1	Respiratory distress	OMIM:184260
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Short nose	OMIM:614732
Fetal Hydantoin Syndrome	Microcephaly, Depressed nasal ridge, Short nose	ORPHA:1912
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Temple Syndrome	Hydrocephalus	OMIM:616222
Rubinstein-Taybi Syndrome 1	Wide nasal bridge, Recurrent upper respiratory tract infections, Respiratory distress, Prominent ...	OMIM:180849
Microgastria-Limb Reduction Defect Syndrome	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2538
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death	OMIM:300219
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Dyspnea	ORPHA:36238
Gabriele-De Vries Syndrome	Ventriculomegaly, Bulbous nose, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, A...	ORPHA:506358
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Microcephaly, Abnormal nasal bridge ...	ORPHA:363659
Kniest Dysplasia	Respiratory distress, Depressed nasal bridge	OMIM:156550
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea	ORPHA:1302
Bartsocas-Papas Syndrome	Microcephaly, Underdeveloped nasal alae, Short nose	ORPHA:1234
Acrocallosal Syndrome	Wide nasal bridge, Agenesis of corpus callosum, Short nose, Aplasia/Hypoplasia of the corpus call...	OMIM:200990
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Cerebral cortical atrophy, Underdeveloped nasal alae, Hydrocephalus, Shor...	OMIM:616007
Femoral-Facial Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Encephalocele, Agenesis of corpus callosum, Spina bi...	OMIM:134780
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Bulbous nose, Inferior cerebellar vermis hypoplasia, Short nose	OMIM:618571
Chromosome 1P36 Deletion Syndrome, Distal	Leukoencephalopathy, Cerebral cortical atrophy, Depressed nasal ridge, Wide nasal bridge, Depress...	OMIM:607872
Congenital Enterovirus Infection	Respiratory distress, Ventriculomegaly	ORPHA:292
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Global brain atrophy, Hypopnea, Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Apnea...	OMIM:618426
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Underdeveloped nasal alae, Anteverted nares, Microcephaly, Short nose	OMIM:613026
Fibrochondrogenesis 2	Anteverted nares, Short nose	OMIM:614524
Molybdenum Cofactor Deficiency, Type A	Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Short nose	OMIM:252150
Yunis-Varon Syndrome	Anteverted nares, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Cerebellar hypopl...	ORPHA:3472
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Prominent nasal tip, Prominent nose, Short nose	ORPHA:439822
Monosomy 9Q22.3	Ventriculomegaly, Chiari malformation, Calcification of falx cerebri, Hydrocephalus, Short nose	ORPHA:77301
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Wide nasal bridge, Short nose, Leukoencephalopathy	OMIM:620369
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Ventriculomegaly, Bulbous nose, Anteverted nares, Hypoplasia of the corpu...	ORPHA:508533
Structural Heart Defects And Renal Anomalies Syndrome	Microcephaly, Partial agenesis of the corpus callosum	OMIM:617478
Simpson-Golabi-Behmel Syndrome	Wide nasal bridge, Anteverted nares, Agenesis of corpus callosum, Short nose, Dandy-Walker malfor...	ORPHA:373
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Anteverted nares, Short nose	OMIM:617877
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:603387
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short nose	ORPHA:2835
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, Mi...	OMIM:244450
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Underdeveloped nasal alae, Secondary microcephaly, Anteverted nares, Prom...	OMIM:300912
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Cerebellar atrophy, Cerebral atrophy, Anteverted nares, Patent ductus art...	OMIM:614080
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Neonatal death, Tachypnea, Exertional dyspnea, Dyspnea	OMIM:610921
16P12.1P12.3 Triplication Syndrome	Bulbous nose, Short nose	ORPHA:485405
Cryptococcosis	Cerebral cortical atrophy, Respiratory distress, Hydrocephalus, Dyspnea, Cerebral edema	ORPHA:1546
Mietens Syndrome	Wide nasal bridge, Microcephaly, Short nose, Wide nose	ORPHA:2557
1P36 Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Cerebral cortical atrophy, Depressed nasal bridge, Vent...	ORPHA:1606
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Trisomy 18	Choanal atresia, Chiari malformation, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Sp...	ORPHA:3380
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Mandibulofacial Dysostosis-Microcephaly Syndrome	Secondary microcephaly, Short nose	ORPHA:79113
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:280
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Microcephaly, Patent ductus arteriosus, Short nose	ORPHA:251071
Avian Influenza	Respiratory distress, Tachypnea, Dyspnea	ORPHA:454836
Trisomy 10P	Depressed nasal bridge, Abnormality of the nose, Anteverted nares, Periventricular white matter h...	ORPHA:171929
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Ventriculomegaly, Periventricular cysts, Absent septum pellucidum, Agenesis of...	OMIM:194190
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Exertional dyspnea, Leukoencephalopathy	OMIM:220110
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
C Syndrome	Wide nasal bridge, Anteverted nares, Microcephaly, Patent ductus arteriosus, Short nose	OMIM:211750
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:950
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short nose	ORPHA:2983
Degcags Syndrome	Ventriculomegaly, Prominent nose, Anteverted nares, Prominent nasal bridge, Agenesis of corpus ca...	OMIM:619488
Oromandibular Dystonia	Respiratory distress, Abnormality of the nose	ORPHA:93958
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Micro...	OMIM:616835
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Wide nasal bridge, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Tachypnea, Parti...	OMIM:220111
Desbuquois Dysplasia 1	Concave nasal ridge, Depressed nasal bridge, Short nose	OMIM:251450
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Short nose	ORPHA:93328
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Respiratory distress, Anteverted nares, Hydrocephalus, Short nose	ORPHA:536467
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
16P11.2P12.2 Microdeletion Syndrome	Bulbous nose, Anteverted nares, Absent nasal bridge, Long nose, Short nose	ORPHA:261211
Prolidase Deficiency	Concave nasal ridge, Depressed nasal bridge, Short nose	OMIM:170100
Pettigrew Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Ring Chromosome 7 Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Narrow naris, Anteverted nares, P...	ORPHA:1449
Witteveen-Kolk Syndrome	Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Ventriculomegaly, Underdeveloped nasa...	OMIM:613406
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:93329
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Hydrocephalus	OMIM:614576
Fetal Alcohol Syndrome	Microcephaly, Anteverted nares, Short nose	ORPHA:1915
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Cerebral calcification, Anteverted nares, Short nose	ORPHA:560
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Leukoencephalopathy, Cerebral atrophy, Respiratory distress, Periventricular white matter hyperin...	ORPHA:79282
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dan...	ORPHA:93271
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hydrocephalus	ORPHA:2169
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus	OMIM:272200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:60040
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Microcephaly, Short nose, Dandy-Walker malformation	ORPHA:2719
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Basal ganglia calcification, Narrow nose, Narrow nasal bridge, Antever...	OMIM:164200
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal corpus callosum morphology, Wide nasal bridge, Cerebellar vermis hypoplasia, Lateral ven...	ORPHA:261537
Schinzel-Giedion Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Broad nasal tip, Respiratory distress, Hypoplasia of...	ORPHA:798
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Myelomeningocele, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Sh...	ORPHA:90652
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:145420
Emanuel Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:609029
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus	ORPHA:1926
Joubert Syndrome 14	Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation	OMIM:614424
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Oculodentodigital Dysplasia	Abnormality of the nose, Underdeveloped nasal alae, Broad columella, Cerebral calcification, Narr...	ORPHA:2710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Leukoencephalopathy, Cerebral atrophy, Respiratory distress, Apnea, Microcephaly, Patent ductus a...	ORPHA:17
Toluene Embryopathy	Microcephaly, Short nose	ORPHA:1920
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Rodrigues Blindness	Narrow nasal bridge, Nasal flaring	OMIM:268320
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:242860
Combined Pituitary Hormone Deficiencies, Genetic Forms	Depressed nasal ridge, Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, ...	ORPHA:95494
Trisomy 12P	Wide nasal bridge, Short nose	ORPHA:1699
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Ventriculomegaly, Cerebellar atrophy, Anteverted nares, Hypoplasia of the corpus callosum, Partia...	ORPHA:280633
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Cerebral cortical atrophy, Anteverted nares, Hydrocephalus, Short nose	ORPHA:1340
Johanson-Blizzard Syndrome	Microcephaly, Underdeveloped nasal alae, Abnormal nostril morphology, Short nose	ORPHA:2315
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Concave nasal ridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613038
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea	OMIM:610978
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Abnormal nostril morphology, Short nose	ORPHA:1295
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Dyspnea, Convex nasal ridge	ORPHA:3015
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Wiedemann-Rautenstrauch Syndrome	Depressed nasal bridge, Chiari malformation, Narrow nose, Anteverted nares, Agenesis of corpus ca...	OMIM:264090
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:618529
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Prominent nasal bridge, Microcephaly, Convex nasal ridge, Short nose, Wide nose	ORPHA:251028
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Choanal stenosis, Patent ductus arteriosus, Short nose	ORPHA:1790
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Microcephaly, Short nose	ORPHA:1786
Lathosterolosis	Chiari type II malformation, Anteverted nares, Microcephaly, Prominent nasal tip, Short nose	OMIM:607330
Focal Dermal Hypoplasia	Broad nasal tip, Chiari malformation, Myelomeningocele, Narrow nasal bridge, Cleft ala nasi, Agen...	OMIM:305600
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Hydrocephalus, Holoprosencephaly, Short nose	OMIM:147791
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Exertional dyspnea, Hypoventilation	ORPHA:98915
Aarskog-Scott Syndrome	Wide nasal bridge, Anteverted nares, Short nose	OMIM:305400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Microcephaly, Patent ductus arteriosus, Short nose	OMIM:618005
Fontaine Progeroid Syndrome	Depressed nasal bridge, Cerebellar vermis hypoplasia, Periventricular heterotopia, Hypoplasia of ...	OMIM:612289
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea	ORPHA:26793
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Hypoplasia of the corpus callosum, Microcephaly, Short nose, Patent ductu...	ORPHA:457395
Diamond-Blackfan Anemia 10	Respiratory distress, Choanal atresia, Patent ductus arteriosus	OMIM:613309
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus	ORPHA:1860
Doors Syndrome	Wide nasal base, Wide nasal bridge, Broad nasal tip, Polymicrogyria, Respiratory distress, Bulbou...	ORPHA:79500
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Myelomeningocele, Cerebellar hypoplasia, Hydrocephalus, Aqueductal stenosis...	OMIM:306955
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Short nose	OMIM:206920
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
3Q29 Microdeletion Syndrome	Microcephaly, Prominent nasal bridge, Patent ductus arteriosus, Short nose	ORPHA:65286
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Bulbous nose, Nasal...	ORPHA:466943
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Anteverted nares, Hypoplasia of the corpus callosum, Recurrent sinusitis, Micr...	OMIM:213980
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea, Myelopathy	ORPHA:79241
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Mowat-Wilson Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Focal cortical dysplasia, Broa...	ORPHA:2152
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Underdeveloped nasal alae, Bulbous nose, Short columella, Prominent nasal bridge, Microcephaly, S...	ORPHA:364577
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Short nose, Stillbirth	OMIM:228520
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cerebral cortical atrophy, Choanal atresia, Absent septum pellucidum, Agenesis of corpus callosum...	ORPHA:2273
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress	ORPHA:367
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Ogden Syndrome	Wide nasal bridge, Flared nostrils, Bifid nasal tip, Depressed nasal bridge, Ventriculomegaly, Ce...	OMIM:300855
Au-Kline Syndrome	Bifid nasal tip, Ventriculomegaly, Underdeveloped nasal alae, Prominent nasal bridge, Wide nasal ...	OMIM:616580
Premature Aging Syndrome, Penttinen Type	Narrow nose, Prominent nasal bridge, Aplasia of the nasal bone, Convex nasal ridge, Retrocerebell...	OMIM:601812
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Central apnea, Hyperventilation, Hemiballismus, Short nose	ORPHA:522077
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Microcephaly, Short nose	OMIM:616723
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Microcephaly, Hydrocephalus, Convex nasal ridge, Cerebellar cortical atrophy, Short nose, Optic n...	OMIM:619321
Schinzel-Giedion Midface Retraction Syndrome	Depressed nasal bridge, Ventriculomegaly, Cerebral atrophy, Anteverted nares, Hypoplasia of the c...	OMIM:269150
Antley-Bixler Syndrome	Choanal atresia, Anteverted nares, Short nose	ORPHA:83
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Short nose	ORPHA:3342
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Wiedemann-Rautenstrauch Syndrome	Abnormal corpus striatum morphology, Polymicrogyria, Anteverted nares, Wide nasal ridge, Agenesis...	ORPHA:3455
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Lujo Hemorrhagic Fever	Respiratory distress, Cerebral edema, Rhinitis	ORPHA:319213
Schneckenbecken Dysplasia	Short nose, Stillbirth	OMIM:269250
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Lateral ventricle dilatation, Anteverted na...	OMIM:615873
Osteoglophonic Dysplasia	Choanal atresia, Depressed nasal bridge, Nasal congestion, Respiratory distress, Anteverted nares...	OMIM:166250
Musculocontractural Ehlers-Danlos Syndrome	Ventriculomegaly, Prominent nasolabial fold, Short nose	ORPHA:2953
Distal Duplication 5Q	Microcephaly, Prominent nasal bridge, Short nose	ORPHA:96097
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Farber Disease	Respiratory distress, Recurrent upper respiratory tract infections	ORPHA:333
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Hydrocephalus	OMIM:614969
Cenani-Lenz Syndrome	Convex nasal ridge, Short nose	ORPHA:3258
Tenorio Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:616260
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Choanal Atresia	Respiratory distress, Nasal congestion	ORPHA:137914
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Microcephaly, Short nose, Bulbous nose	OMIM:614114
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cerebral atrophy, Depressed nasal bridge, Hypoplasia of the corpus callosum, Short nose	OMIM:601353
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Poikiloderma With Neutropenia	Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae, Short nose	OMIM:604173
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal cerebral cortex morphology, Abnormal medulla oblongata mor...	ORPHA:68
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Cerebellar atrophy, Cerebral atrophy, Microcephaly, Spina bifida occulta,...	OMIM:301030
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Chops Syndrome	Microcephaly, Anteverted nares, Patent ductus arteriosus, Short nose	OMIM:616368
Trisomy 17P	Hydrocephalus	ORPHA:261290
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hydrocephalus	ORPHA:500055
Coffin-Siris Syndrome 1	Choanal atresia, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the corpus callosum, Micr...	OMIM:135900
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Stillbirth, Short nose	OMIM:200600
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Depressed nasal bridge, Cerebellar vermis hypoplasia, Anteverted nares, Agenes...	OMIM:312870
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Cerebral atrophy, Anteverted nares, Microcephaly, Short nose	OMIM:301040
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Pallister-Hall Syndrome	Depressed nasal bridge, Choanal atresia, Anteverted nares, Neonatal death, Holoprosencephaly, Pat...	OMIM:146510
Alg9-Cdg	Depressed nasal bridge, Cerebellar atrophy, Cerebral atrophy, Underdeveloped nasal alae, Progress...	ORPHA:79328
Trisomy 20P	Anteverted nares, Spina bifida, Short nose	ORPHA:261318
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Cervical myelopathy	OMIM:183900
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal...	ORPHA:63259
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cerebral cortical atrophy, Ventriculomegaly, Broad nasal tip, Underdeveloped nasal alae, Hypoplas...	ORPHA:268261
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Hydrocephalus	OMIM:261740
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Short nose	OMIM:605309
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Short nose	OMIM:311300
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Campomelic Dysplasia	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Spin...	OMIM:114290
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, Chiari malformation, Bulbous nose, Choanal stenosis, Hyd...	ORPHA:95699
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Narrow nose	OMIM:617602
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hydrocephalus	OMIM:300514
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Cerebral atrophy, Bulbous nose, Hypopl...	OMIM:309590
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Respiratory distress, Rhinitis, Short nose	OMIM:305100
Joubert Syndrome	Hydrocephalus, Encephalocele	ORPHA:475
Stuve-Wiedemann Syndrome 1	Wide nasal base, Anteverted nares, Apnea, Low hanging columella, Short nose	OMIM:601559
Primary Ciliary Dyskinesia	Ventriculomegaly, Hydrocephalus	ORPHA:244
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Calcification of falx cerebri, Short nose	OMIM:154780
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Congenital Myasthenic Syndrome	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira...	ORPHA:98914
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Ventriculomegaly, Short nose	OMIM:230740
Fg Syndrome Type 1	Ventriculomegaly, Hydrocephalus	ORPHA:93932
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Triosephosphate Isomerase Deficiency	Respiratory distress, Cerebral atrophy	OMIM:615512
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Secondary microcephaly, Primary microcephaly, Short nose	ORPHA:476126
Arboleda-Tham Syndrome	Bifid nasal tip, Broad nasal tip, Respiratory distress, Prominent nasal bridge, Microcephaly, Pri...	OMIM:616268
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Distal Deletion 9P	Wide nasal bridge, Short nose	ORPHA:1642
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Multifocal hyperintensity of cerebral white matter on MRI	ORPHA:308552
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Encephalocele	ORPHA:1865
Bacterial Toxic-Shock Syndrome	Respiratory distress, Tachypnea	ORPHA:36234
Achondroplasia	Hydrocephalus	ORPHA:15
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:616331
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Microcephaly, Patent ductus arteriosus, Short nose	ORPHA:2282
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Secondary microcephaly, Anteverted nares, Short nose	OMIM:608156
Opsismodysplasia	Depressed nasal bridge, Short nose	ORPHA:2746
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Trichothiodystrophy 1, Photosensitive	Microcephaly, Short nose	OMIM:601675
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Mitochondrial Dna-Associated Leigh Syndrome	Focal T2 hyperintense basal ganglia lesion, Apnea, Episodic respiratory distress, Dyspnea, Hyperv...	ORPHA:255210
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
8Q24.3 Microdeletion Syndrome	Wide nasal bridge, Broad nasal tip, Global brain atrophy, Respiratory distress, Secondary microce...	ORPHA:508488
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Histidinemia	Hyperactivity	ORPHA:2157
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Low insertion of columella, ...	OMIM:619005
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Short nose	OMIM:608612
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea	OMIM:610913
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Atelosteogenesis, Type I	Depressed nasal bridge, Encephalocele, Neonatal death, Stillbirth, Short nose	OMIM:108720
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Short nose	OMIM:616894
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele	ORPHA:2356
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Chiari type I malformation, Patent ductus arteriosus,...	OMIM:609942
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Microcephaly, Anteverted nares	OMIM:615273
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Absent mesencephalon, Cerebellar dysplasia, Poorly formed metencephalon	OMIM:601374
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Chiari malformation, Bulbous nose, Anteverted nares, Short nose	OMIM:271510
Temtamy Preaxial Brachydactyly Syndrome	Short nose	ORPHA:363417
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus	OMIM:620371
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Wiedemann-Steiner Syndrome	Abnormal corpus callosum morphology, Microcephaly, Short nose, Wide nasal bridge	ORPHA:319182
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose	OMIM:277450
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Semilobar holoprosencephaly, Narrow nose, Anteverted nares, Hypoplasia of the co...	OMIM:301044
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Peters Plus Syndrome	Cerebral cortical atrophy, Depressed nasal bridge, Ventriculomegaly, Aplasia/Hypoplasia of the co...	ORPHA:709
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele	ORPHA:1335
Ethylene Glycol Poisoning	Cerebral edema, Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress	ORPHA:31826
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Periventricular leukom...	OMIM:613458
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:258480
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus	OMIM:130720
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Peters-Plus Syndrome	Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Pat...	OMIM:261540
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Short nose, Narrow naris	OMIM:122880
Nicolaides-Baraitser Syndrome	Wide nasal base, Bulbous nose, Narrow nasal bridge, Anteverted nares, Microcephaly, Low hanging c...	OMIM:601358
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Diffuse leukoencephalopathy	OMIM:256810
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Bilateral choanal atresia, Anteverted ...	OMIM:616462
Cocaine Intoxication	Respiratory distress, Hyperventilation, Tachypnea, Ischemic stroke	ORPHA:90068
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Whipple Disease	Hydrocephalus	ORPHA:3452
Coffin-Lowry Syndrome	Ventriculomegaly, Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Microc...	OMIM:303600
Tuberous Sclerosis Complex	Respiratory distress, Cortical dysplasia, Cortical tubers, Noncommunicating hydrocephalus	ORPHA:805
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Cerebral atrophy, Chiari type I malformation, Short nose	OMIM:601088
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Ctcf-Related Neurodevelopmental Disorder	Ventriculomegaly, Broad nasal tip, Anteverted nares, Short columella, Microcephaly, Patent ductus...	ORPHA:363611
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Respiratory distress, Diffuse cerebral atrophy, Mic...	ORPHA:83617
Osteogenesis Imperfecta, Type X	Respiratory distress	OMIM:613848
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Hydrocephalus	ORPHA:395
Neuroblastoma	Respiratory distress	ORPHA:635
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea	ORPHA:2131
Esophageal Atresia	Respiratory distress, Choanal atresia, Episodic respiratory distress	ORPHA:1199
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules	ORPHA:25
Mirage Syndrome	Hydrocephalus	OMIM:617053
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Short nose	ORPHA:1225
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, Ventriculomegaly, Bulbous nose, Depressed nasal tip, Anteverted nares, Microce...	OMIM:619475
Dend Syndrome	Anteverted nares, Short nose	ORPHA:79134
Oculopharyngodistal Myopathy 1	Respiratory distress, Abnormal cerebral white matter morphology	OMIM:164310
Coccidioidomycosis	Respiratory distress, Hydrocephalus	ORPHA:228123
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Patent ductus arteriosus	ORPHA:210122
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Meier-Gorlin Syndrome 1	Respiratory distress, Microcephaly	OMIM:224690
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Ventriculomegaly, Respiratory distress, Cerebellar dysplasia, Abnormal septum pellucidum morpholo...	ORPHA:99646
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Bannayan-Riley-Ruvalcaba Syndrome	Anteverted nares, Short nose, Wide nose	ORPHA:109
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress	ORPHA:37042
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea	ORPHA:100050
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Sepsis In Premature Infants	Dyspnea, Nasal flaring	ORPHA:90051
Orofaciodigital Syndrome Type 4	Cerebral cortical atrophy, Choanal atresia, Depressed nasal ridge, Microcephaly, Cerebral cortica...	ORPHA:2753
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Ear-Patella-Short Stature Syndrome	Respiratory distress, Microcephaly, Dyspnea	ORPHA:2554
Hurler Syndrome	Hydrocephalus	OMIM:607014
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Short nose	ORPHA:870
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Cleidocranial Dysplasia 1	Respiratory distress, Depressed nasal bridge, Wide nasal bridge	OMIM:119600
Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Anteverted nares, Agenesis of pineal gland, Short nose, Optic nerve hypop...	ORPHA:536471
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hydrocephalus	OMIM:259720
Short-Rib Thoracic Dysplasia 12	Holoprosencephaly, Anencephaly, Hydrocephalus	OMIM:269860
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Hypoplasia of the corpus callosum, Hypoplasia of ...	OMIM:216340
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Congenital Tracheomalacia	Recurrent upper respiratory tract infections, Intercostal retractions, Apnea, Dyspnea, Patent duc...	ORPHA:95430
Q Fever	Respiratory distress	ORPHA:781
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Congenital Syphilis	Hydrocephalus, CSF pleocytosis	ORPHA:499009
Listeriosis	Respiratory distress, Abnormal brainstem MRI signal intensity	ORPHA:533
Cornelia De Lange Syndrome 6	Microcephaly, Anteverted nares, Hypoplasia of the corpus callosum, Short nose	OMIM:620568
Townes-Brocks Syndrome	Chiari malformation, Patent ductus arteriosus, Agenesis of corpus callosum	ORPHA:857
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Exertional dyspnea, Orthopnea	ORPHA:365
Holoprosencephaly	Spinal dysraphism, Encephalocele, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	ORPHA:2162
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Convex nasal ridge, Short nose	OMIM:300661
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress	OMIM:620278
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Narrow naris, Anteverted nares, Micro...	OMIM:617157
Dextrocardia	Hydrocephalus	ORPHA:1666
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Epistaxis, Dyspnea	ORPHA:340
Cornelia De Lange Syndrome	Choanal atresia, Cerebral cortical atrophy, Depressed nasal bridge, Ventriculomegaly, Anteverted ...	ORPHA:199
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Craniofacial Microsomia 1	Occipital encephalocele, Chiari malformation, Agenesis of corpus callosum, Hydrocephalus, Patent ...	OMIM:164210
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Autosomal Recessive Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:1507
Medulloblastoma	Hydrocephalus	ORPHA:616
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Short nose	ORPHA:90154
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Hypoplasi...	ORPHA:2729
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:96121
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Dyspnea	ORPHA:3260
H Syndrome	Hydrocephalus	ORPHA:168569
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2166
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Frontofacionasal Dysplasia	Cranium bifidum occultum, Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Shor...	OMIM:229400
Toxic Epidermal Necrolysis	Respiratory distress	ORPHA:537
Mucopolysaccharidosis Type 3	Ventriculomegaly, Hydrocephalus	ORPHA:581
Dubowitz Syndrome	Spina bifida occulta, Hydrocephalus	ORPHA:235
Pallister-Hall Syndrome	Abnormal corpus callosum morphology, Choanal atresia, Depressed nasal ridge, Anteverted nares, Ce...	ORPHA:672
Scimitar Syndrome	Respiratory distress, Patent ductus arteriosus	ORPHA:185
Robinow Syndrome, Autosomal Recessive 1	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:268310
Autosomal Dominant Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose, Wide nose	ORPHA:3107
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Microcephaly, Short nose	OMIM:609945
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Microcephaly, Anteverted nares, Patent ductus arteriosus, Short nose	ORPHA:444077
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea, Patent ductus arteriosus	ORPHA:2299
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Depressed nasal bridge, Ventriculomegaly, Prominent nose, Apnea, Ischemic stroke, Periventricular...	OMIM:619503
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:50945
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Cerebellar vermis hypoplasia, Broad nasal tip, Microcephaly, Prominent nasal t...	OMIM:620330
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Ventriculomegaly, Short columella, Short nose	OMIM:601776
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions	ORPHA:1329
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Robinow Syndrome	Flared nostrils, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Short nose	ORPHA:97360
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Deeah Syndrome	Prominent nasal tip, Short nose	OMIM:619004
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Short nose	ORPHA:1974
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Depressed nasal bridge, Patent ductus arteriosus	OMIM:617088
Gitelman Syndrome	Respiratory distress, Cerebral calcification	ORPHA:358
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
C Syndrome	Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Anteverted nares, Microcephaly...	ORPHA:1308
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Short nose	OMIM:227330
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Short nose	OMIM:268400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Broad nasal tip, Bulbous nose, Anteverted nares, Microcephaly, Long nose, Pate...	OMIM:619522
Kasabach-Merritt Phenomenon	Respiratory distress, Hypopnea	ORPHA:2330
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:2462
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Bartsocas-Papas Syndrome 1	Underdeveloped nasal alae, Short nose	OMIM:263650
Spondylocarpotarsal Synostosis Syndrome	Anteverted nares, Broad nasal tip, Short nose	OMIM:272460
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress	OMIM:617156
Phocomelia, Schinzel Type	Meningocele, Short nose	ORPHA:2879
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Unde...	OMIM:618332
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Microcephaly, Prominent nose	OMIM:614748
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea, Patent ductus arteriosus	ORPHA:141127
Geleophysic Dysplasia 1	Wide nasal bridge, Anteverted nares, Short nose	OMIM:231050
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Depressed nasal bridge, Enlarged naris, Calcification of falx cerebri, Con...	OMIM:271665
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Dyspnea	ORPHA:79404
Acrocephalopolydactylous Dysplasia	Short nose	OMIM:200995
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Kabuki Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2322
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Prominent nasal bridge, Patent ductus arteriosus, Short nose	ORPHA:1519
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly	ORPHA:2369
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Sponastrime Dysplasia	Depressed nasal bridge, Chiari malformation, Anteverted nares, Aplasia of the nasal bone, Hypopla...	ORPHA:93357
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Fanconi Anemia	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:84
Nocardiosis	Respiratory distress, Dyspnea	ORPHA:31204
Williams Syndrome	Wide nasal bridge, Cerebral cortical atrophy, Chiari malformation, Microcephaly, Spina bifida occ...	ORPHA:904
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Pallister-Killian Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Secondary microcephaly, Anteverted n...	OMIM:601803
Geleophysic Dysplasia 2	Short nose	OMIM:614185
22Q11.2 Deletion Syndrome	Hydrocephalus, Meningocele, Spina bifida	ORPHA:567
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose	ORPHA:293948
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Depressed nasal bridge, Recurrent upper respiratory tract infection...	ORPHA:293987
Osteogenesis Imperfecta	Ventriculomegaly, Hydrocephalus, Noncommunicating hydrocephalus	ORPHA:666
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea	ORPHA:3206
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Robinow Syndrome, Autosomal Dominant 1	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:180700
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Short nose	OMIM:258315
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Stickler Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:828
Eisenmenger Syndrome	Respiratory distress, Exertional dyspnea, Patent ductus arteriosus	ORPHA:97214
Meningioma	Hydrocephalus	ORPHA:2495
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Patent ductus arteriosus	ORPHA:2255
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Ulbright-Hodes Syndrome	Respiratory distress, Depressed nasal bridge, Convex nasal ridge	ORPHA:3404
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2072
Fraser Syndrome 1	Myelomeningocele, Hydrocephalus, Encephalocele	OMIM:219000
Gaucher Disease	Ventriculomegaly, Hydrocephalus	ORPHA:355
Costello Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:218040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:457359
Williams-Beuren Syndrome	Depressed nasal bridge, Broad nasal tip, Anteverted nares, Cerebellar hypoplasia, Chiari type I m...	OMIM:194050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Rhinitis	ORPHA:95455
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus	OMIM:253280
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cerebral calcification, Encephalomalacia	ORPHA:51608
Lipodystrophy, Familial Partial, Type 7	Narrow nasal ridge, Short nose	OMIM:606721
Pmm2-Cdg	Cerebellar vermis hypoplasia, Respiratory distress, Prominent nose, Prominent nasal bridge, Antev...	ORPHA:79318
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Apneic episodes in infancy, Exertional dyspnea, Patent ...	ORPHA:99125
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation	OMIM:619534
Plague	Respiratory distress	ORPHA:707
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Leptospirosis	Respiratory distress	ORPHA:509
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus	OMIM:619325
Penile Agenesis	Depressed nasal bridge, Short nose	ORPHA:49
Aspartylglucosaminuria	Wide nasal bridge, Short nose	ORPHA:93
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Townes-Brocks Syndrome 1	Holoprosencephaly, Hydrocephalus	OMIM:107480
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele	OMIM:268300
Alström Syndrome	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent sinusitis	ORPHA:64
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Polymicrogyria	ORPHA:45358
Dysequilibrium Syndrome		ORPHA:1766

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tubb2b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tubb2b.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mouse oocytes develop in cysts with the help of nurse cells.	Cell (May 2022)	Tubb2b^em1(IMPC)J	35623357

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tubb2b^em1(IMPC)J	Exon Deletion	Mice
Tubb2b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tubb2b^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Tubb2b^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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