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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 (1381 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, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology...	ORPHA:467166
Congenital Fibrosis Of Extraocular Muscles	Polymicrogyria, Optic nerve hypoplasia	ORPHA:45358
Dysequilibrium Syndrome		ORPHA:1766

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

Disease	Matching phenotypes	Source
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co...	ORPHA:171703
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Lissencephaly 4	Simplified gyral pattern, Wide nasal bridge, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, ...	OMIM:614019
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Microcephaly, Gray mat...	OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Microcephaly 17, Primary, Autosomal Recessive	Bulbous nose, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebell...	OMIM:617090
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Anteverted nares, Absent septum pellucidum, Prominent nose, Microcephaly, Bulbous nose, Simplifie...	OMIM:618492
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ...	OMIM:617542
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Macrocephaly, Acquired, With Impaired Intellectual Development	Narrow nasal bridge, Probst bundles, Anteverted nares, Agenesis of corpus callosum, Thin corpus c...	OMIM:618286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H...	OMIM:613153
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Schizophrenia 15	Hyperactivity	OMIM:613950
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o...	OMIM:620200
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o...	OMIM:619466
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Neonatal respiratory distress, Apnea, Microcephaly, Wide nasal bridge, Neuron...	ORPHA:168486
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Molar tooth sign on MRI, Agene...	OMIM:617127
Developmental And Epileptic Encephalopathy 88	Depressed nasal bridge, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Inferior...	OMIM:618959
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum...	ORPHA:85179
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:616570
Microlissencephaly	Cerebellar atrophy, Thick cerebral cortex, Subcortical heterotopia, Pneumonia, Cerebral dysmyelin...	ORPHA:1083
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Anteverted nares, Microcephaly, Periventricular heterotopia, Bulbous nose, Pa...	OMIM:616212
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Prominent nose, Hypoplasia of the pons, Microcephaly, Partial agenesis of the...	OMIM:616171
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, H...	OMIM:618730
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Wide nasal bridge, Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, ...	ORPHA:166024
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Periventricular heterotopia, Periventricular cysts, Hypoplasia of t...	ORPHA:255138
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Prominent nasal bridge, Choanal atresia, Reduced cerebral white matter volume...	OMIM:615095
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Depressed nasal bridge, Microcephaly, Hypoplasia of the pons, Hypop...	OMIM:618325
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Periventricular leukomalacia, Agenesis of corpus callosum, Respiratory insuff...	OMIM:618324
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Respiratory distress, Wide nose, Cerebral calcification, 4-layered lissenceph...	ORPHA:89844
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo...	OMIM:304100
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Perisylvi...	OMIM:600118
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum, Anteverted nares, Wide nasal bridge	ORPHA:1621
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Microhydranencephaly	Prominent nasal bridge, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrane...	OMIM:605013
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Peho-Like Syndrome	Cerebellar atrophy, Progressive microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, S...	OMIM:617507
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Apneic episodes in infancy, Molar tooth sign on MRI,...	OMIM:619111
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Optic ne...	ORPHA:370959
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Neonatal respiratory distress, Microcephaly, Partial agenesis of th...	ORPHA:79243
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum...	OMIM:164180
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Depressed nasal bridge, Microcephaly, Bulbous nose, Parietal cortical atrophy, Frontal cortical a...	OMIM:618766
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Microcephaly, Flared nostrils, Wide nasal bridge, Cerebral atrophy, Apneic epis...	OMIM:312170
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Hydrocephalus, Wide nasal bridge, Hypoplasia of the corpus callosum, Short nose...	OMIM:618577
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Respiratory...	OMIM:618276
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callosum, ...	OMIM:616342
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Hypoplasia of the ...	OMIM:615249
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Prominent nasal bridge, Reduced cerebral white matter volume, Prominent nose, Dysplastic corpus c...	OMIM:620317
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Lissencephaly, X-Linked, 2	Prominent nasal bridge, Wide nasal bridge, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300215
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia...	OMIM:225790
Spinocerebellar Ataxia 23	Cerebellar atrophy, Agenesis of corpus callosum	OMIM:610245
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy, Chia...	OMIM:207950
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Depressed nasal bridge, Ventriculomegaly, Microcephaly	OMIM:615286
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebel...	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	Respiratory distress, Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Hypop...	OMIM:617977
Joubert Syndrome 3	Central apnea, Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypopl...	OMIM:608629
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Abnormal cerebral white matte...	OMIM:613443
Glutathionuria	Gray matter heterotopia, Asthma, Agenesis of corpus callosum	OMIM:231950
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Wide nasal bridge, Lissencephaly, Cerebellar hypoplasia, Pachygy...	OMIM:620316
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha...	OMIM:614833
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Prominent nose, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	OMIM:604804
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Apnea, Hyd...	ORPHA:220497
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o...	OMIM:617669
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Episodic tachypnea...	ORPHA:163961
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum, Wide nasal ridge	OMIM:618786
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge	ORPHA:380
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614583
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa...	ORPHA:521308
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal den...	OMIM:619517
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Microcephaly, Dyspnea, Depressed nasal ridge, Respiratory...	ORPHA:1832
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Wide nasal bridge...	OMIM:610015
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:618603
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Apnea, Abnormal cortical gyration, Dysplastic corpus callosum, Hypo...	ORPHA:2524
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Patent ductus arteriosus, Chiari type I malformation, Hypoplasia of the corpus cal...	OMIM:218350
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Bulbous nose, Cerebellar hypoplasia, Hypoplasia of the corp...	OMIM:617695
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Dworschak-Punetha Neurodevelopmental Syndrome	Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpu...	OMIM:619955
Foxg1 Syndrome	Abnormal respiratory system physiology, Hypoplasia of the corpus callosum, Pachygyria, Agenesis o...	ORPHA:561854
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Apnea, Hyd...	ORPHA:220493
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly, Microcephaly	ORPHA:251056
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of...	OMIM:616602
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Hypoplasia of the corpus callosum, Pulmonary arterial hypertension, Short nose, Age...	OMIM:300887
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Prominent nose, Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy...	OMIM:619244
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Bulbous nose, Hydrocephalus, Simplified gyral pattern,...	OMIM:615219
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Chiari type I malformation, Hypoplasia of the corpus callosum, Short nose, Agen...	OMIM:613735
Joubert Syndrome 23	Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia	OMIM:616490
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S...	ORPHA:500144
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Agyria, Subcortical heterotopia, Optic nerve hypoplasia, Type II lissencephaly, Pa...	OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Anteverted nares, P...	OMIM:617751
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Prominent nasal bridge, Prominent nose, Microcephal...	OMIM:214150
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosu...	OMIM:616900
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Apnea, Tachypnea, Gray matter heterotopia, Molar tooth sign...	OMIM:617622
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Wide nasal...	OMIM:619179
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Frontonasal Dysplasia 1	Pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Anterior basal encephalocele, Wide nasal b...	OMIM:136760
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Microcephaly, Wide nasal bridge, Lateral ventricle dilatation, Short nose, Thin ...	OMIM:615716
Al-Gazali-Bakalinova Syndrome	Depressed nasal bridge, Wide nasal bridge, Hypoplasia of the corpus callosum, Molar tooth sign on...	OMIM:607131
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Wide nasal bridge, Restrictive ventilatory defect, Short nose...	OMIM:218000
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Depressed nasal bridge, Progressive microcephaly, Short nose, Dandy-Walker ma...	ORPHA:438178
Baraitser-Winter Syndrome 1	Anteverted nares, Microcephaly, Patent ductus arteriosus, Wide nasal bridge, Lissencephaly, Short...	OMIM:243310
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Anteverted nares, Absent septum pellucidum, Proboscis, Micr...	OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar ...	OMIM:613150
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Microcephaly, Periventricular heterotopia, Bulbous nose...	OMIM:614105
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia involving the nose, Absent nares, Holoprosencephaly, Apl...	ORPHA:990
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Respiratory insufficienc...	OMIM:253800
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Anteverted nares, Partial agenesis of the corpus callosum, Aplasia/...	OMIM:616819
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Even-Plus Syndrome	Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Short nose, Agenesis of corpu...	OMIM:616854
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly	OMIM:615433
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Patent ductus arteriosus, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Acromelic Frontonasal Dysplasia	Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Upper airway obstruction, Hypoplasi...	ORPHA:1827
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Broad nasal tip, Bifid ...	OMIM:603671
Hogue-Janssen Syndrome 2	Anteverted nares, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of cor...	OMIM:616362
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo...	ORPHA:99742
Weiss-Kruszka Syndrome	Anteverted nares, Colpocephaly, Hypoplasia of the corpus callosum, Short nose, Agenesis of corpus...	OMIM:618619
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp...	OMIM:614815
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Hydrocephalus, Bulbous nose, Chiari type I m...	OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly	OMIM:175700
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Po...	ORPHA:899
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Primary microcephaly, Agenesis of c...	ORPHA:466688
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Depressed nasal bridge, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:238750
Adenylosuccinate Lyase Deficiency	Short nose, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microcephaly	ORPHA:46
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency, Abnormal corpus striatum morphology	ORPHA:238329
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Microcephaly, Patent ductus arteriosus, Lissencephaly, Hypoplasia of the ...	OMIM:618142
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Short columella, Agenesis of corpus callosum, Microcephaly	OMIM:619989
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Anteverted nares, Optic nerve hypoplasia, Hypoplasia of the corpus...	ORPHA:228384
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Cerebral white matter atrophy, Neonatal respiratory distress, Secondary mic...	OMIM:615042
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Vici Syndrome	Hypoplasia of the pons, Depressed nasal tip, Gray matter heterotopia, Cerebellar hypoplasia, Agen...	ORPHA:1493
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, S...	OMIM:619775
17Q21.31 Microduplication Syndrome	Short nose, Anteverted nares, Microcephaly	ORPHA:217340
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Microcephaly, Recurrent pneumonia, Hypoplasia of the corpus callosum, Short nose, Ventriculomegaly	ORPHA:1495
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, V...	OMIM:619074
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Short nose	ORPHA:217385
Miller-Dieker Syndrome	Anteverted nares, Lissencephaly, Hypoplasia of the corpus callosum, Short nose, Cerebral cortical...	ORPHA:531
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Depressed nasal bridge, Microcephaly	ORPHA:261519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Congenital Hydrocephalus	Colpocephaly, Hydrocephalus, Ventriculomegaly	ORPHA:2185
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Recurrent upper respiratory tract infections, Lateral ven...	ORPHA:3078
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus...	ORPHA:314679
Desmosterolosis	Depressed nasal bridge, Absent septum pellucidum, Abnormal cortical gyration, Abnormality of the ...	ORPHA:35107
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Microcephaly 13, Primary, Autosomal Recessive	Prominent nose, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	OMIM:616051
Intellectual Developmental Disorder, Autosomal Dominant 65	Anteverted nares, Bulbous nose, Noncommunicating hydrocephalus, Wide nasal bridge, Agenesis of co...	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencepha...	OMIM:615181
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted nares, Underdeve...	ORPHA:228390
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Aplasia/Hypoplasia of ...	OMIM:617822
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Microcephaly, Wide nasal bridge, Cerebellar hypo...	OMIM:616258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissencephaly,...	OMIM:236670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Holoprosencephaly, Tracheomalacia, Agenesis of corpus callosum	OMIM:202650
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Abnormality of neuronal migration, Holopr...	ORPHA:261236
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618379
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Respiratory distress, Neuronal loss in basal ganglia, Depressed nasal bridge,...	OMIM:604377
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalu...	ORPHA:157
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p...	ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Fg Syndrome 3	Chiari type I malformation, Agenesis of corpus callosum	OMIM:300406
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum, Wide nasal bridge	ORPHA:93267
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Depressed nasal bridge, Microcephaly	OMIM:618346
Temtamy Syndrome	Thick corpus callosum, Agenesis of corpus callosum, Convex nasal ridge, Ventriculomegaly	OMIM:218340
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Microcephaly, Dysplastic ...	OMIM:620001
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Mi...	OMIM:217980
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Perching Syndrome	Respiratory distress, Depressed nasal bridge	OMIM:617055
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae...	OMIM:619720
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Microcephaly	OMIM:245349
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Patent ductus arteriosus, Cerebral atrop...	ORPHA:171839
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Respiratory distress, Cerebellar vermis hypoplasia, Anteverted nares, Wide n...	OMIM:619383
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Probst bundles, Anteverted nares, Hydrocephalus, Patent ductus arteriosus, ...	OMIM:612863
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Colpo...	OMIM:620113
Trisomy 1Q	Wide nose, Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Cerebellar hypoplasia...	ORPHA:261344
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Microcephaly, Periventricular heterotopia, Hydrocephalus, Colpocephaly, S...	OMIM:619833
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares	ORPHA:2015
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Depressed nasal bridge, Microcephaly, Focal polymicrogyria, Dysplastic corpus...	OMIM:619103
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca...	OMIM:620352
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Patent ductus arteriosus, Respiratory insufficiency, Colpocephaly, Hypoplasia of th...	OMIM:617260
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300934
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Respiratory ...	ORPHA:1895
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:85277
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Wide nasal bridge, Sec...	OMIM:620073
Stromme Syndrome	Cerebellar vermis hypoplasia, Prominent nasal bridge, Optic nerve hypoplasia, Microcephaly, Hydro...	OMIM:243605
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Bulbous nose, Pleural effusion, Wide nasal base, Agenesis...	ORPHA:1446
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Microcephaly, Bulbous nose, Short nose, Agenesis of corpus callosum	ORPHA:261144
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Depressed nasal bridge, Hydrocephalus, Agenesis of corpus callosum,...	ORPHA:459061
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Toriello-Carey Syndrome	Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus callosum, Patent duct...	ORPHA:3338
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Depressed nasal bridge, Microcephaly, Cer...	OMIM:615802
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Short nose, Agenesis...	ORPHA:1812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Neonatal respiratory distress, Apnea, Microcephaly,...	OMIM:608836
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Anteverted nares, Choanal atresia, Microcephaly, Hypoplasia of the ...	OMIM:616975
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Asthma, ...	ORPHA:280200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Chiari type I malformation, Occipital m...	OMIM:601707
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal ...	OMIM:616430
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Rhiny	Short nose, Anteverted nares	OMIM:180360
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Fumarase Deficiency	Depressed nasal bridge, Anteverted nares, Microcephaly, Cerebral atrophy, Hypoplasia of the brain...	OMIM:606812
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Agenesis of corpus callosum, Anosmia, Choanal atresia	OMIM:147950
Non-Distal Duplication 10Q	Short nose, Depressed nasal bridge, Convex nasal ridge, Microcephaly	ORPHA:1695
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy...	OMIM:619272
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal ...	OMIM:123790
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Marden-Walker Syndrome	Anteverted nares, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cere...	OMIM:248700
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Bulbous nose, Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of ...	ORPHA:481152
Basel-Vanagaite-Smirin-Yosef Syndrome	Anteverted nares, Microcephaly, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hyperte...	OMIM:616449
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:602398
Hydrolethalus	Absent septum pellucidum, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis...	ORPHA:2189
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Mild fetal ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosu...	OMIM:619435
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Chiari malformation...	OMIM:609053
Bohring-Opitz Syndrome	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Microcephaly, Wide nasal...	OMIM:605039
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Hypodysplasia of the corpu...	OMIM:257300
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Radio-Tartaglia Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, Bulbous nose, Wid...	OMIM:619312
Peho Syndrome	Cerebellar atrophy, Hypoplasia of the corpus callosum, Short nose, Pachygyria, Polymicrogyria, Pr...	OMIM:260565
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Bulbous nose, Patent ductus arteriosus, Cerebellar hypop...	ORPHA:284169
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Anteverted nares, Wide nasal bridge, Microcephaly	OMIM:619980
Emanuel Syndrome	Microcephaly, Hydrocephalus, Patent ductus arteriosus, Cerebral atrophy, Abnormal cerebral white ...	ORPHA:96170
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Short nose, Anteverted nares, Microcephaly	OMIM:618506
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral ...	ORPHA:96147
Holoprosencephaly 7	Flat nasal alae, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus callosum,...	OMIM:610828
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Absent septum pellucidum, Hydrocephalus, Respiratory ins...	ORPHA:87
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Polymicrogyria	OMIM:616974
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Intermittent hyperventilation, Prominent nasal bridge, Optic nerve hypo...	OMIM:300749
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Primary microcephaly	OMIM:245570
Coffin-Siris Syndrome 11	Agenesis of corpus callosum, Bulbous nose, Depressed nasal bridge	OMIM:618779
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus, Myelomeningocele, Respi...	ORPHA:1914
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, Short nose	OMIM:300558
Cutis Laxa, Autosomal Recessive, Type Iib	Narrow nasal ridge, Microcephaly, Bulbous nose, Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:238769
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short nose, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Wide nasal bridge	OMIM:620250
Chromosome 5P13 Duplication Syndrome	Bulbous nose, Agenesis of corpus callosum, Wide nasal bridge, Low hanging columella	OMIM:613174
Nizon-Isidor Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Bulbous nose, Hypoplasia of the...	OMIM:618872
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections...	ORPHA:60032
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge, Microcephaly	OMIM:200130
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Abnormal pattern of respiration, Microcephaly	ORPHA:833
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Apnea, Hyd...	ORPHA:2318
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Wide nasal bridge, Depressed nasal...	OMIM:612651
Smith-Kingsmore Syndrome	Depressed nasal bridge, Reduced cerebral white matter volume, Megalencephaly, Perisylvian polymic...	OMIM:616638
Nabais Sa-De Vries Syndrome, Type 1	Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypopl...	OMIM:618828
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Cerebellar atrophy, Respiratory distress, Microcephaly, Hypoplasia of the co...	ORPHA:544503
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Intellectual Developmental Disorder, Autosomal Recessive 65	Prominent nasal bridge, Bulbous nose, Partial agenesis of the corpus callosum, Hypoplasia of the ...	OMIM:618109
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Depressed nasal bridge, Patent ductus arteriosus, Pontocerebellar atrophy, ...	OMIM:608799
Pallister-Hall-Like Syndrome	Occipital encephalocele, Depressed nasal bridge, Microcephaly, Hydrocephalus, Chiari type I malfo...	OMIM:241800
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Prominent nasal bridge, Agenesis of corpus callosum, Choanal atresia	ORPHA:52055
Halperin-Birk Syndrome	Colpocephaly, Aspiration, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly	OMIM:618651
Fried Syndrome	Hydrocephalus	ORPHA:85335
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly	ORPHA:26792
Periventricular Nodular Heterotopia 7	Anteverted nares, Periventricular nodular heterotopia, Cortical dysplasia, Gray matter heterotopi...	OMIM:617201
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral atrophy, Hypoplasi...	OMIM:616420
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Wide nose, Microcephaly, Cerebral atrophy, Progressive microcephaly, Secondar...	OMIM:615851
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Microcephaly, Patent ductus arteriosu...	ORPHA:363528
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Ventriculomegaly, Depressed nasal bridge, Choanal atresia, Abnormal cortica...	OMIM:300968
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Dan...	OMIM:612582
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Frontotemporal cerebral atrophy, Apnea, Respiratory distress	ORPHA:79097
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Polymicrogy...	OMIM:264480
Intellectual Developmental Disorder, Autosomal Dominant 22	Long nose, Agenesis of corpus callosum, Depressed nasal bridge, Microcephaly	OMIM:612337
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilata...	ORPHA:1692
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Absent septum pellucidum, Dysplastic corpus callosum, Gray matter hete...	OMIM:618820
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Partial agenesis of the corpus callosum, Aplasia/Hypopla...	OMIM:222448
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Birk-Landau-Perez Syndrome	Neonatal respiratory distress, Pachygyria, Agenesis of corpus callosum, Microcephaly	OMIM:617595
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Recurrent pneumonia, Agenesis ...	OMIM:300472
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Pierpont Syndrome	Wide nose, Microcephaly, Broad nasal tip, Chiari malformation, Short nose	OMIM:602342
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent nasal bridge, Microcephaly, Bulbous nose, Spina bifida occulta, Wide nasal bridge, Smal...	OMIM:617360
Pontocerebellar Hypoplasia, Type 10	Reduced cerebral white matter volume, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Wide...	OMIM:615803
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Short nose, Depressed nasal bridge	ORPHA:261120
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum, Depressed nasal bridge, Periventricular heterotopia	OMIM:618929
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Peho Syndrome	Cerebellar atrophy, Anteverted nares, Microcephaly, Hydrocephalus, Porencephalic cyst, Atrophy/De...	ORPHA:2836
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Microcephaly, Co...	ORPHA:356961
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology...	ORPHA:467166
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventr...	OMIM:617296
Pfeiffer Syndrome Type 2	Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus...	ORPHA:93259
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, G...	OMIM:301056
Stuve-Wiedemann Syndrome 2	Respiratory distress, Pulmonary arterial hypertension, Stillbirth, Neonatal death	OMIM:619751
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Lissencephaly, Cerebellar hypoplasia, Secondary microcephaly, Short nose	ORPHA:50810
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Bulbous nose, Wide nasal bridge, Microcephaly	ORPHA:261304
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Anosmia, Aplasia/Hypopla...	ORPHA:3157
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Anteverted nares, Hydrocephalus, Wide nasal bridge, Ce...	ORPHA:3309
Joubert Syndrome 7	Central apnea, Encephalocele, Brainstem dysplasia, Episodic tachypnea, Tachypnea, Hypoplasia of t...	OMIM:611560
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Short nose, Cerebral cor...	OMIM:234050
Joubert Syndrome 31	Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:617761
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Monosomy 13Q34	Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Microcephaly, Agenesis of cor...	ORPHA:96168
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Hypoplasia of the cor...	OMIM:617802
Genitopatellar Syndrome	Wide nose, Apnea, Prominent nasal bridge, Microcephaly, Prominent nose, Agenesis of corpus callosum	ORPHA:85201
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypopla...	ORPHA:457284
Aicardi Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Microcephaly, Pachygyria, Partial a...	OMIM:304050
Marshall-Smith Syndrome	Apnea, Choanal stenosis, Aspiration pneumonia, Pachygyria, Agenesis of corpus callosum, Recurrent...	OMIM:602535
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Tachypnea, Molar tooth sign on MRI,...	ORPHA:397715
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Depressed nasal bridge, Holopr...	ORPHA:563612
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Coffin-Siris Syndrome	Dandy-Walker malformation, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephal...	ORPHA:1465
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Agenesis of corpus callosum, Hydrocephalus, Septo-optic dy...	ORPHA:3301
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Choanal atresia, Microcephaly, Patent ductus arteriosus, Anencephaly, Wide nasal b...	OMIM:619148
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Kleefstra Syndrome	Anteverted nares, Microcephaly, Dyspnea, Tracheomalacia, Short nose, Agenesis of corpus callosum,...	ORPHA:261494
Basel-Vanagaite-Smirin-Yosef Syndrome	Anteverted nares, Microcephaly, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hyperte...	ORPHA:464738
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Narrow nasal ridge, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Bulbous nose, Part...	OMIM:619512
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cardiorespiratory arrest, Respiratory insufficiency, Cerebellar hypoplasia, Pachygyria, Agenesis ...	ORPHA:93317
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Microcephaly, Patent ductus arteriosus, Wide nasal bridge, Hypoplasia of ...	OMIM:613457
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Wi...	OMIM:300000
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Short nose, Low hanging columella	OMIM:617752
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial...	OMIM:620305
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Leigh Syndrome	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ...	ORPHA:506
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Broad nasal tip, Porencephalic cyst, Molar tooth sign on MRI, Occip...	OMIM:277170
Plaa-Associated Neurodevelopmental Disorder	Cerebral white matter atrophy, Apnea, Abnormal cortical gyration, Microcephaly, Leukoencephalopat...	ORPHA:521426
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Depressed nasal bridge, Megalencephaly, Hydrocephalus, Respi...	OMIM:616482
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Secondary microcephaly, Frontal cortical atrophy, Hypoplasia...	OMIM:618437
Cadds	Cerebellar atrophy, Abnormal cerebral white matter morphology, Short nose, Ventriculomegaly	ORPHA:369942
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antev...	ORPHA:59315
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Alobar holoprosencephaly, Patent duc...	OMIM:301043
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Short nose, Polymicrogyria	OMIM:618774
Sotos Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Partial agenesis of the corpus callosu...	OMIM:117550
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Cerebral white matter atrophy, Cerebellar hypoplasia, Abnormal periventricu...	ORPHA:329178
Coffin-Siris Syndrome 4	Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Microcephaly, Patent du...	OMIM:614609
Odontochondrodysplasia	Patent ductus arteriosus, Short nose, Depressed nasal bridge, Respiratory distress	ORPHA:166272
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Prominent nasal bridge, Long nose, Agenesis of corpus callosum, Narrow nose	OMIM:309520
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur...	OMIM:263000
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary micr...	ORPHA:289266
Succinic Acidemia	Respiratory distress	OMIM:600335
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum, Bulbous nose, Anteverted nares	ORPHA:1780
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Hydrocephalu...	OMIM:618590
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Cerebellar gliosis, Tachypnea, Periventricular cysts, Increased ca...	ORPHA:3008
Joubert Syndrome 2	Central apnea, Enlarged fossa interpeduncularis, Neonatal breathing dysregulation, Agenesis of ce...	OMIM:608091
Jaberi-Elahi Syndrome	Depressed nasal bridge, Microcephaly, Globus pallidus hypointensity on susceptibility-weighted im...	OMIM:617988
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Stt3B-Cdg	Cerebellar atrophy, Respiratory distress, Microcephaly	ORPHA:370924
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Tetrasomy 18P	Short nose, Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Respiratory distress, Microcephaly	OMIM:615597
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Cerebral calcification, Prominent nose, Microcephaly, Dysplastic co...	OMIM:617281
1Q21.1 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Agenesis ...	ORPHA:250989
Micro Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Abnormal cerebellum morphology, Wid...	ORPHA:2510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Depressed nasal bridge, Wide nasal bridge, Hypoplasia of the corpus callosum	OMIM:617102
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventriculomegaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Promine...	OMIM:618454
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Periventricular heterotopia, Bulbous nose, Partial agenes...	ORPHA:434179
Opitz Gbbb Syndrome	Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Patent ductus arteri...	ORPHA:2745
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal external nose morphology, Hypoxemia, Holoprosencephaly, Agenesis of corpus callosum, Sem...	ORPHA:556955
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Wide nasal bridge, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Wa...	ORPHA:96092
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough, Microcephaly	ORPHA:86812
Joubert Syndrome 9	Encephalocele, Apnea, Episodic tachypnea, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, H...	ORPHA:1791
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Microcephaly	ORPHA:2598
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Bainbridge-Ropers Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa...	OMIM:615485
Chromosome 6Q11-Q14 Deletion Syndrome	Prominent nasal bridge, Microcephaly, Broad nasal tip, Primary microcephaly, Short nose	OMIM:613544
Pfeiffer Syndrome Type 3	Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Chiari malfor...	ORPHA:93260
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	ORPHA:391408
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Fryns Syndrome	Anteverted nares, Wide nasal bridge, Dandy-Walker malformation, Agenesis of corpus callosum, Cere...	ORPHA:2059
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Orofaciodigital Syndrome I	Abnormal cortical gyration, Underdeveloped nasal alae, Microcephaly, Hydrocephalus, Porencephalic...	OMIM:311200
Warburg Micro Syndrome 3	Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Short nose, Polymicrogyr...	OMIM:614222
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia	OMIM:245590
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose	ORPHA:2370
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Acrocephalopolydactyly	Short nose, Depressed nasal ridge	ORPHA:221054
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Choanal atresia, Dyspnea, Wide nasal bridge, Respiratory failure	ORPHA:2759
Bohring-Opitz Syndrome	Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Apnea, Microcephaly, Wide nasal bridg...	ORPHA:97297
Malaria	Respiratory distress	ORPHA:673
Distal Deletion 10Q	Prominent nasal bridge, Prominent nose, Microcephaly, Patent ductus arteriosus, Wide nasal bridge...	ORPHA:96148
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus...	OMIM:618961
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Globus pallidus calcification, Wide nasal bridge, Short nose	OMIM:620292
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Progressive leukoencephalopathy, Apnea, Abnormal cortical gyration, Cessation of head growth, Res...	OMIM:617527
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum, Bifid nose	ORPHA:268249
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge, Microcephaly	OMIM:616910
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
3C Syndrome	Ventriculomegaly, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Abnormality of neuron...	ORPHA:7
Microcephaly-Capillary Malformation Syndrome	Wide nose, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus callosum, Short n...	OMIM:614261
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Patent ductus arteriosus, Bulbous nose, Pachygyria, Polymicrogyria	ORPHA:2328
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Absent septum pellucidum, Megalencephaly, Hydrocephalus,...	OMIM:101200
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Microcephaly, Wide nasal bridge, Pleural effusion, Cerebellar hypoplasia, Short...	OMIM:616897
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose	ORPHA:1529
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilat...	OMIM:619479
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Anteverted nares, Hydrocephalus	ORPHA:2701
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Thick cerebral cortex, Anteverted nares, Broad nasal tip, Emphysema, Prominent nasolabial fold, P...	ORPHA:357074
Diaphanospondylodysostosis	Respiratory distress, Depressed nasal bridge, Depressed nasal ridge, Respiratory insufficiency, T...	OMIM:608022
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus...	ORPHA:261552
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Chitayat Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella, Tracheomalacia	OMIM:617180
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corp...	OMIM:614866
Immunodeficiency 49	Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplas...	OMIM:618500
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, P...	ORPHA:209905
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Depressed nasal bridge, Microcephaly, Short nose, Global brain atrophy	OMIM:608776
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Short nose, Ventriculomegaly	ORPHA:2083
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Xp21 Deletion Syndrome	Apneic episodes in infancy, Agenesis of corpus callosum	ORPHA:261476
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum	OMIM:302950
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Cerebellar hypoplasia, Short nose, Depressed nasal ridge, Hydrocephalus	ORPHA:163966
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Microcephaly, Hypoplasia of olfactory tract, Agenesi...	ORPHA:314621
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Short nose, Microcephaly	OMIM:615419
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Meningocele, Respiratory insufficiency, Short nose, ...	ORPHA:2031
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Cerebral cortical atrophy, Respiratory distress, Microcephaly	ORPHA:254913
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal periventricular white matter morphology, Respiratory insufficiency	ORPHA:1145
Alexander Disease	Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Respiratory insuffici...	ORPHA:58
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Anteverted nares, Cerebellar vermis hypoplasia, Abnormal cortical ...	OMIM:210710
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
15Q Overgrowth Syndrome	Hydrocephalus, Wide nasal bridge, Pulmonary arterial hypertension, Agenesis of corpus callosum, D...	ORPHA:314585
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Microcephaly, Depressed nasal ridge, Short nose	OMIM:613885
Achondroplasia	Respiratory distress, Depressed nasal bridge, Megalencephaly, Hydrocephalus, Upper airway obstruc...	OMIM:100800
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Gaucher Disease, Perinatal Lethal	Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Microcephaly, Neonatal dea...	OMIM:608013
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Recurrent...	ORPHA:314655
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Alobar Holoprosencephaly	Central apnea, Proboscis, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Depressed n...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Proboscis, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Depressed n...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Proboscis, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Depressed n...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Proboscis, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Depressed n...	ORPHA:220386
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Microcephaly	OMIM:611936
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Respiratory distress, Anteverted nares, Broad nasal tip, Prominent nose, Mic...	ORPHA:177907
Moebius Syndrome	Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Hypoplasia of the ...	OMIM:157900
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Still...	OMIM:236680
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Periventricular heterotopia,...	OMIM:615948
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Apnea, Gray matter heterotopia, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617563
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Short nose, Anteverted nares, Absent septum pellucidum	ORPHA:3339
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Breathi...	OMIM:610688
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Femoral-Facial Syndrome	Short nose, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1988
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia...	OMIM:601853
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Ventriculomegaly	OMIM:620166
Trigonocephaly 1	Short nose, Wide nasal bridge, Microcephaly	OMIM:190440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Respiratory distress, Pneumothorax, Cerebral atrophy, Ventriculomegaly	OMIM:620306
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Cavum septum pellucidum,...	ORPHA:457279
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Chung-Jansen Syndrome	Short nose, Anteverted nares	OMIM:617991
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Smith-Magenis Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Wide nasal bridge, Aplasia/Hypoplasia of ...	ORPHA:819
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Cerebellar hypoplasia, Cerebellar vermis atrophy, Microcephaly	OMIM:618087
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Perlman Syndrome	Short nose, Anteverted nares, Wide nasal bridge	ORPHA:2849
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Anteverted nares, Spina bifida, Microcephaly, Short nose	ORPHA:1327
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Depressed nasal bridge, Anteverted nares, Prominent nose, Patent ductus arteriosus, Wide nasal br...	OMIM:618316
Lowry-Maclean Syndrome	Choanal atresia, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Short no...	ORPHA:2409
Mosaic Trisomy 8	Agenesis of corpus callosum, Wide nose, Anteverted nares, Broad nasal tip	ORPHA:96061
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus,...	OMIM:249000
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Harel-Yoon Syndrome	Cerebellar atrophy, Short nose	OMIM:617183
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Respiratory distress, Depressed nasal bridge, Anteverted nares, Pate...	OMIM:618188
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Wide nasal bridge, Depressed nasal tip, H...	OMIM:619306
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Depressed nasal bridge, Microcephaly, Wide nasal bridge, Hypoplasia of the corpus callosum, Agene...	OMIM:619418
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Cerebellar hypoplasia, Short nose, Ventriculomegaly	ORPHA:561
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Anteverted nares	ORPHA:420794
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cough, Pleural effusion	ORPHA:3392
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Microcephaly, Short nose, Pachygyria, Polymicrogyria, Dandy-Walker malformation	OMIM:219200
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasolabial fold, Pulmona...	ORPHA:391372
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Malan Syndrome	Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:614753
Jacobsen Syndrome	Anteverted nares, Spina bifida, Wide nasal bridge, Cerebral atrophy, Short nose, Pachygyria, Agen...	ORPHA:2308
Lenz-Majewski Hyperostotic Dwarfism	Choanal atresia, Microcephaly, Dysplastic corpus callosum, Choanal stenosis, Spina bifida occulta...	OMIM:151050
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Chiari malformation, Choanal stenosis, Sh...	OMIM:101600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Holoprosencephaly 9	Depressed nasal bridge, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial...	OMIM:610829
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal cerebellum mor...	OMIM:211530
Neu-Laxova Syndrome 1	Wide nose, Spina bifida, Patent ductus arteriosus, Depressed nasal ridge, Stillbirth, Lissencepha...	OMIM:256520
Joubert Syndrome 1	Central apnea, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Anteverted nares, ...	OMIM:213300
Verheij Syndrome	Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Microcephaly, Wide nasal bridge, Cereb...	OMIM:615583
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose	OMIM:613604
Donnai-Barrow Syndrome	Short nose, Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2143
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Miller-Dieker Lissencephaly Syndrome	Anteverted nares, Microcephaly, Wide nasal bridge, Gray matter heterotopia, Lissencephaly, Hypopl...	OMIM:247200
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Holoprosencephaly 1	Proboscis, Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Aplasia of the nose, Et...	OMIM:236100
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Depressed nasal bridge, Neonatal death, Hepatic periportal necrosis, Pachyg...	OMIM:231680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal...	OMIM:613154
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Hydrocephalus	OMIM:614219
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Histiocytoid Cardiomyopathy	Hydrocephalus, Tachypnea, Cough, Cerebellar malformation, Agenesis of corpus callosum	ORPHA:137675
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Short nose, Cerebral atrophy	OMIM:256600
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Bulbous nose, Anteverted nares, Microcephaly	ORPHA:261323
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D...	OMIM:610921
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Opitz-Kaveggia Syndrome	Choanal atresia, Prominent nose, Hydrocephalus, Partial agenesis of the corpus callosum, Gray mat...	OMIM:305450
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Vici Syndrome	Wide nose, Cerebellar vermis hypoplasia, Depressed nasal bridge, Schizencephaly, Microcephaly, Gr...	OMIM:242840
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Microcephaly	DECIPHER:52
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Microcephaly, Short nose, Progressive mi...	OMIM:610536
Warburg Micro Syndrome 2	Prominent nasal bridge, Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, ...	OMIM:614225
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal ...	OMIM:605627
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Tachypnea, Pulmonary arterial hypertension, ...	OMIM:613320
Trisomy 8P	Depressed nasal bridge, Anteverted nares, Microcephaly, Hydrocephalus, Recurrent upper respirator...	ORPHA:264450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Anteverted nares, Microcephaly, Underdeveloped nasal alae, Broad nasal tip,...	ORPHA:438216
Cerebrofaciothoracic Dysplasia	Wide nose, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Short nose, Cerebral ...	ORPHA:1394
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Microcephaly	OMIM:619356
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Depressed nasal ridge, Hydrocephalus	OMIM:300863
Japanese Encephalitis	Respiratory distress, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnorma...	ORPHA:79139
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Cerebral ...	OMIM:615398
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency	OMIM:614299
Episodic Ataxia Type 1	Cerebellar atrophy, Respiratory distress	ORPHA:37612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta	ORPHA:1514
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys...	ORPHA:141083
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In...	ORPHA:330021
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Hydrocephalus, Anencephaly, Hypoplasia of t...	OMIM:616546
Craniofrontonasal Syndrome	Bifid nasal tip, Wide nasal bridge, Hypoplastic nasal tip, Hypoplasia of the corpus callosum, Age...	OMIM:304110
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Inspiratory stridor	OMIM:618618
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Trichothiodystrophy	Periventricular leukomalacia, Cerebral dysmyelination, Microcephaly, Partial agenesis of the corp...	ORPHA:33364
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Underdeveloped nasal alae, Microcephaly, Wide nasal bridge, Hypoplasia of the...	OMIM:193700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Respiratory distress, Microcephaly, Bulbous nose, Recurrent pneumonia, Cerebr...	OMIM:616271
Pterygium Colli, Isolated	Short nose	OMIM:177990
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Anteverted nares, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Sho...	ORPHA:1358
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anteverted nares, Microcephaly, Depressed nasal ridge, Agenesis of corpus callosum, Cerebral cort...	ORPHA:847
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Microcephaly, Wide nasal bridge, Lobar holoprosencephaly, Short nose, Ventricul...	OMIM:614701
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Microcephaly, Colpo...	OMIM:618460
Spinocerebellar Ataxia-Dysmorphism Syndrome	Aplasia/Hypoplasia of the cerebellum, Short nose, Spina bifida occulta, Anteverted nares	ORPHA:1185
Adenylosuccinase Deficiency	Cerebellar atrophy, Anteverted nares, Microcephaly, Cerebral atrophy, Short nose	OMIM:103050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus	ORPHA:1555
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Underdeveloped nasal alae	ORPHA:264200
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Osteopathia Striata With Cranial Sclerosis	Apnea, Patent ductus arteriosus, Hydrocephalus, Partial agenesis of the corpus callosum, Wide nas...	OMIM:300373
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Neon...	OMIM:252160
Hartsfield Syndrome	Wide nose, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Agenesis of corpus ca...	OMIM:615465
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Hydr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Hydr...	ORPHA:363958
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus callosum, ...	ORPHA:2519
Fetal Trimethadione Syndrome	Short nose, Depressed nasal bridge, Microcephaly	ORPHA:1913
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Microcephaly	ORPHA:927
Distal Duplication 18Q	Short nose, Prominent nasal bridge, Anteverted nares, Choanal atresia	ORPHA:1716
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Microcephaly, Wide nasal bridge, Hypoplasia of the corpus callosum, Short nose, ...	OMIM:614207
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Megalencephaly, Microcephaly, Hydrocephalus, Wide nasal bridge, Short columella, Short nose, Vent...	OMIM:613603
Genitopatellar Syndrome	Wide nose, Prominent nasal bridge, Prominent nose, Microcephaly, Periventricular heterotopia, Wid...	OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Respiratory distress, Ventriculomegaly, Cerebellar vermis hypoplasia, D...	ORPHA:480880
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Craniofaciofrontodigital Syndrome	Respiratory distress, Depressed nasal bridge, Dyspnea, Patent ductus arteriosus, Hyperintensity o...	ORPHA:363705
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Underdeveloped nasal alae, Wide nasal bridge, Bifid nose, Cranium bifidum oc...	ORPHA:306542
Al-Raqad Syndrome	Short nose, Microcephaly	OMIM:616459
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Wide nose, Patent ductus arteriosus, Recurrent upper respiratory tract infe...	OMIM:607143
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Wide nose, Cerebral calcification, Microcephaly, Patent ductus arteriosus, ...	OMIM:617303
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Patent ductus arteriosus, Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Wide nose, Neonatal asphyxia, Cerebral atrophy, Respiratory insufficiency, Hy...	OMIM:608779
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Simplified gyral pattern, Cerebellar hemisphere hypoplasia, Emphysema, Depressed nasal bridge, Wi...	ORPHA:500150
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Short nose, Optic nerve hypoplasia	ORPHA:496790
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Wide nasal ...	ORPHA:444072
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Microcephaly, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, ...	OMIM:617061
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Wide nasal brid...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Wide nasal brid...	ORPHA:352665
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Depressed nasal...	OMIM:619841
Perlman Syndrome	Agenesis of corpus callosum, Depressed nasal bridge, Wide nasal bridge	OMIM:267000
Teebi Hypertelorism Syndrome 2	Short nose, Depressed nasal bridge, Broad nasal tip	OMIM:619736
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Microcephaly, Broad nasal tip, Wide nasal bridge, Short nose, Ventriculomegaly	OMIM:614749
Zttk Syndrome	Depressed nasal bridge, Dysplastic corpus callosum, Patent ductus arteriosus, Wide nasal bridge, ...	OMIM:617140
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Wide nasal bridge, Hypoplasia of the corpus c...	ORPHA:508498
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Depressed nasal bridge, Anteverted nares, Microceph...	OMIM:270400
Fanconi Anemia, Complementation Group D2	Microcephaly, Patent ductus arteriosus, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesi...	OMIM:227646
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Achondrogenesis	Short nose, Anteverted nares	ORPHA:932
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Wide nose, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephalus, ...	ORPHA:2556
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Cerebral atrophy	OMIM:615539
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Broad nasal tip, Hydrocephalus, Wide nasal bridge, Short nose, Cerebral cortical atrophy	OMIM:239300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Depressed nasal bridge	OMIM:617895
Ramos-Arroyo Syndrome	Respiratory distress, Anteverted nares, Depressed nasal bridge, Patent ductus arteriosus, Concave...	ORPHA:1051
Melas	Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c...	ORPHA:550
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Cerebral calcification, Patent ductus arteriosus, Hydrocephalus, Stridor, P...	ORPHA:505248
Myotonic Dystrophy 1	Respiratory distress, Cerebral atrophy	OMIM:160900
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Short nose	ORPHA:369891
Fryns Syndrome	Anteverted nares, Hypoplasia of the optic tract, Wide nasal bridge, Stillbirth, Hypoplasia of olf...	OMIM:229850
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Glutaric Acidemia I	Lateral ventricle dilatation, Hydrocephalus	OMIM:231670
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Neonatal death, Shor...	OMIM:619859
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Achondrogenesis Type 1B	Short nose, Anteverted nares	ORPHA:93298
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:2707
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares	OMIM:619854
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Microcephaly, Short nose, Agenesis of ...	ORPHA:261112
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge	ORPHA:226313
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Corpus callosum atrophy, Chiari...	ORPHA:357001
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Cerebral cortical atrophy, Short nose, Broad columella, Progressive micro...	OMIM:617865
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Short nose, Depressed nasal bridge	ORPHA:93258
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Microcephaly	OMIM:174300
Achondrogenesis Type 1A	Short nose, Anteverted nares	ORPHA:93299
Temple Syndrome	Hydrocephalus	ORPHA:254516
Prolidase Deficiency	Depressed nasal bridge, Asthma, Recurrent pneumonia, Concave nasal ridge, Short nose, Chronic lun...	OMIM:170100
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Aggressive behavior	ORPHA:85327
Craniosynostosis, Herrmann-Opitz Type	Short nose, Convex nasal ridge	ORPHA:2145
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum, Cerebellar cyst	OMIM:613091
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Short nose	ORPHA:2547
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Wide nasal bridge	OMIM:614078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Non-Distal Duplication 13Q	Short nose, Microcephaly	ORPHA:1702
Choanal Atresia	Respiratory distress, Upper airway obstruction, Nasal congestion, Tracheomalacia, Chronic sinusit...	ORPHA:137914
Mgat2-Cdg	Respiratory distress, Patent ductus arteriosus, Cerebellar hypoplasia, Recurrent upper and lower ...	ORPHA:79329
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Bulbous nose, Holoprosencephaly, Hypoplasia of the corpus callosum, Age...	OMIM:613884
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Microcephaly, Sho...	OMIM:615866
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Intellectual Developmental Disorder, Autosomal Dominant 1	Cerebellar vermis hypoplasia, Prominent nose, Microcephaly, Bulbous nose, Depressed nasal ridge, ...	OMIM:156200
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Infantile Krabbe Disease	Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Re...	ORPHA:206436
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge	ORPHA:210548
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Mogs-Cdg	Respiratory distress, Hypoventilation, Wide nose, Apnea, Hypoplasia of the corpus callosum	ORPHA:79330
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:401935
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Restrictive Dermopathy 2	Respiratory distress, Convex nasal ridge	OMIM:619793
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Holoprosencephaly 2	Aplasia of the nasal bone, Proboscis, Microcephaly, Alobar holoprosencephaly, Absent nasal septal...	OMIM:157170
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic...	ORPHA:1546
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614613
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose	ORPHA:1458
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum, Convex nasal ridge, Underdeveloped nasal alae	OMIM:618419
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus callosum...	OMIM:206900
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Adnp Syndrome	Respiratory distress, Depressed nasal bridge, Microcephaly, Recurrent upper respiratory tract inf...	ORPHA:404448
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Bronchiectasis, Short nose	OMIM:242860
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida, Broad nasal tip, Partial agenesis of the corpus callosum, Patent ductus arteriosus,...	OMIM:619480
Arachnoiditis	Hydrocephalus	ORPHA:137817
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology	OMIM:251000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Apnea, Microcephaly, Cer...	OMIM:618426
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Stickler Syndrome Type 1	Short nose	ORPHA:90653
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Wide nasal bridge, Hypoplasia of the corpus callosum, Broad nasal tip	OMIM:619194
Orofaciodigital Syndrome Type 1	Choanal atresia, Underdeveloped nasal alae, Wide nasal bridge, Agenesis of corpus callosum, Dandy...	ORPHA:2750
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Leukoencephalopathy, Resp...	OMIM:220110
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Patent ductus arteriosus, Wide nas...	OMIM:235730
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:249620
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ...	OMIM:619426
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Bulbous nose, Depressed nasal bridge, Short nose	OMIM:618430
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal pyramidal tract mor...	ORPHA:206448
Meier-Gorlin Syndrome 6	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microcephaly, Tracheobroncho...	OMIM:616835
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Microcephaly, Hypoplasia...	OMIM:244450
Lathosterolosis	Cerebral calcification, Anteverted nares, Microcephaly, Bulbous nose, Meningocele, Chiari malform...	ORPHA:46059
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Dyspnea, Respiratory failure, Chylothorax, Pleural ...	ORPHA:3015
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum, Choanal atresia	ORPHA:2658
Waardenburg Syndrome Type 1	Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Short nose	ORPHA:894
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Porencephalic cyst, Anteverted nares, Ventriculomegaly	OMIM:612394
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Aymé-Gripp Syndrome	Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Chiari type I malformation, Hypo...	ORPHA:1272
Degcags Syndrome	Chronic lung disease, Anteverted nares, Prominent nasal bridge, Pneumonia, Prominent nose, Microc...	OMIM:619488
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Repeated pneumothoraces, Hydrocep...	ORPHA:536467
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Yunis-Varon Syndrome	Narrow nasal base, Anteverted nares, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the fron...	ORPHA:3472
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion, Ventriculomegaly	ORPHA:292
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:163649
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Bulbous nose, Hydrocephalus, Aplasia/Hypoplasia of the ...	OMIM:115150
Baller-Gerold Syndrome	Prominent nasal bridge, Optic nerve hypoplasia, Underdeveloped nasal alae, Hydrocephalus, Spina b...	OMIM:218600
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Ring Chromosome 13 Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Anencephaly, Wide nasal bridge, Agenesis ...	ORPHA:96176
Kniest Dysplasia	Respiratory distress, Depressed nasal bridge, Tracheomalacia	OMIM:156550
Desbuquois Dysplasia 1	Neonatal respiratory distress, Short nose, Concave nasal ridge, Depressed nasal bridge	OMIM:251450
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Depressed nasal bridge	OMIM:151210
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Apnea	ORPHA:1129
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Respiratory insufficiency, Cerebellar hypoplasia, Dandy-Walker...	ORPHA:93271
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Monosomy 22Q13.3	Bulbous nose, Agenesis of corpus callosum, Wide nasal bridge, Cerebellar cortical atrophy	ORPHA:48652
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Ruvalcaba Syndrome	Short nose, Convex nasal ridge, Microcephaly	ORPHA:3121
Temple Syndrome	Hydrocephalus	OMIM:616222
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge, Microcephaly	ORPHA:1912
Tetrasomy 12P	Short nose, Anteverted nares	ORPHA:884
Acrodysostosis	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Short nose	ORPHA:950
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Long nose, Bulbous nose, Recurrent pneumo...	ORPHA:508533
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge	OMIM:614732
Gabriele-De Vries Syndrome	Bulbous nose, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Agene...	ORPHA:506358
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death	OMIM:300219
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Acrocallosal Syndrome	Short nose, Agenesis of corpus callosum, Wide nasal bridge, Aplasia/Hypoplasia of the corpus call...	OMIM:200990
Rubinstein-Taybi Syndrome 1	Respiratory distress, Spina bifida, Prominent nose, Microcephaly, Patent ductus arteriosus, Recur...	OMIM:180849
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Agenesis of corpus callosum, Depressed nasal bridge, Abnormal cerebellum ...	ORPHA:226307
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted...	ORPHA:308552
20Q11.2 Microduplication Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Wide nasal bridge, Abnormal nasal bridge ...	ORPHA:363659
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal bridge, Microcephaly, Hydrocephalus, Polymicrogyria, Depressed nasal ridge, Wide ...	OMIM:607872
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Wide nasal bridge, Leukoencephalopathy, Pleural effusion, Short nose	OMIM:620369
Odontochondrodysplasia 1	Respiratory distress	OMIM:184260
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Microcephaly, Pulmonary embolism, Hydrocephalus, Leukoencephalopathy, Cereb...	ORPHA:79282
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Microcephaly, Underdeveloped nasal alae, Wide nasal bridge, Short nose	OMIM:613026
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Anteverted nares, Partial absence of cerebellar vermis, Patent ductus arterio...	ORPHA:280633
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Short nose, Cerebral cortical a...	OMIM:616007
Raine Syndrome	Cerebral calcification, Depressed nasal bridge, Choanal atresia, Microcephaly, Hydrocephalus, Cho...	OMIM:259775
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Inferior cerebellar vermis hypoplasia, Bulbous nose, Wide nasal bridge, Short nose	OMIM:618571
Bartsocas-Papas Syndrome	Short nose, Microcephaly, Underdeveloped nasal alae	ORPHA:1234
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Pde4D Haploinsufficiency Syndrome	Prominent nasal tip, Short nose, Depressed nasal bridge, Prominent nose	ORPHA:439822
Monosomy 9Q22.3	Hydrocephalus, Chiari malformation, Calcification of falx cerebri, Short nose, Ventriculomegaly	ORPHA:77301
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Molybdenum Cofactor Deficiency, Complementation Group A	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Ventriculomegaly	OMIM:252150
Simpson-Golabi-Behmel Syndrome	Anteverted nares, Wide nasal bridge, Short nose, Agenesis of corpus callosum, Dandy-Walker malfor...	ORPHA:373
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Depressed nasal bridge, Microcephaly, Periventricular heterotopia, ...	OMIM:612289
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Fibrochondrogenesis 2	Short nose, Anteverted nares	OMIM:614524
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Spina bifida occulta, Anteverted nares	OMIM:617877
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Sinusitis, Abnormal midbrain morpholo...	ORPHA:68
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ...	OMIM:243910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Cerebral ...	OMIM:614080
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose, Microcephaly	ORPHA:2557
Oromandibular Dystonia	Respiratory distress, Abnormality of the nose	ORPHA:93958
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Trisomy 18	Choanal atresia, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callos...	ORPHA:3380
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Secondary microcephaly	ORPHA:79113
Trisomy 10P	Depressed nasal bridge, Anteverted nares, Periventricular white matter hypodensities, Abnormality...	ORPHA:171929
16P12.1P12.3 Triplication Syndrome	Bulbous nose, Short nose	ORPHA:485405
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Wide nasal bridge, Periventricular cysts, ...	OMIM:194190
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Chops Syndrome	Anteverted nares, Microcephaly, Patent ductus arteriosus, Aspiration pneumonia, Tracheomalacia, S...	OMIM:616368
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Patent ductus arteriosus, Wide nasal bridge, Short nose	ORPHA:251071
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Spina bifida occulta	ORPHA:2983
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
C Syndrome	Anteverted nares, Microcephaly, Patent ductus arteriosus, Wide nasal bridge, Short nose	OMIM:211750
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge	ORPHA:93328
1P36 Deletion Syndrome	Depressed nasal bridge, Microcephaly, Patent ductus arteriosus, Depressed nasal ridge, Wide nasal...	ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Partial agenesis of the corpus call...	OMIM:220111
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Wide nasal bridge, Microcephaly	ORPHA:280
16P11.2P12.2 Microdeletion Syndrome	Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short nose	ORPHA:261211
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Microcephaly, Abnormal cerebellum morphology, Wide nasa...	ORPHA:1449
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Patent ductus arteriosus, Pulmonary arterial hypertension, ...	ORPHA:65286
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Fetal Alcohol Syndrome	Short nose, Anteverted nares, Microcephaly	ORPHA:1915
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Marshall Syndrome	Cerebral calcification, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	ORPHA:560
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Schinzel-Giedion Syndrome	Respiratory distress, Broad nasal tip, Recurrent pneumonia, Chiari type I malformation, Neural tu...	ORPHA:798
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Wiedemann-Rautenstrauch Syndrome	Depressed nasal bridge, Anteverted nares, Narrow nasal ridge, Pneumonia, Hydrocephalus, Chiari ma...	OMIM:264090
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:93329
Witteveen-Kolk Syndrome	Wide nose, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdeveloped nasal...	OMIM:613406
Otopalatodigital Syndrome Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia, Sh...	ORPHA:90652
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency...	OMIM:615512
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Microcephaly, Short nose, Dandy-Walker malformation	ORPHA:2719
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Respiratory distress, Apnea, Microcephaly, Patent du...	ORPHA:17
Oculodentodigital Dysplasia	Narrow nasal bridge, Cerebral calcification, Anteverted nares, Abnormality of the nose, Underdeve...	ORPHA:2710
Rodrigues Blindness	Narrow nasal bridge, Nasal flaring	OMIM:268320
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Toluene Embryopathy	Short nose, Microcephaly	ORPHA:1920
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Teebi Hypertelorism Syndrome 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:145420
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Microcephaly, Basal ganglia cal...	OMIM:164200
Trisomy 12P	Short nose, Wide nasal bridge	ORPHA:1699
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Microcephaly, Underdeveloped nasal alae	ORPHA:2315
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Cerebral edema	ORPHA:319213
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Short nose	ORPHA:3342
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short nose, Cerebral cortical atrophy	ORPHA:1340
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Opsismodysplasia	Short nose, Depressed nasal bridge, Respiratory insufficiency	ORPHA:2746
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Prominent nasal bridge, Microcephaly, Short nose, Convex nasal ridge	ORPHA:251028
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose	OMIM:613038
Focal Dermal Hypoplasia	Narrow nasal bridge, Cleft ala nasi, Broad nasal tip, Microcephaly, Hydrocephalus, Myelomeningoce...	OMIM:305600
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Asthma, Nasal flaring, Wide nasal bridge, ...	ORPHA:466943
Acrofacial Dysostosis, Catania Type	Short nose, Spina bifida occulta, Microcephaly	ORPHA:1786
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Hydrocephalus, Holoprosencephaly, Short nose	OMIM:147791
Ogden Syndrome	Depressed nasal bridge, Apnea, Underdeveloped nasal alae, Bifid nasal tip, Microcephaly, Patent d...	OMIM:300855
Doors Syndrome	Respiratory distress, Small cerebellar cortex, Anteverted nares, Broad nasal tip, Microcephaly, B...	ORPHA:79500
Musculocontractural Ehlers-Danlos Syndrome	Prominent nasolabial fold, Pneumothorax, Ventriculomegaly, Short nose	ORPHA:2953
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Apnea, Spina bifida,...	OMIM:114290
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Microcephaly, Patent ductus arteriosus, Wide nasal bridge, Hypoxemia, Pulmonary...	ORPHA:2282
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Short nose, Wide nasal bridge, Microcephaly	OMIM:618005
Aarskog-Scott Syndrome	Short nose, Anteverted nares, Wide nasal bridge	OMIM:305400
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Farber Disease	Respiratory distress, Recurrent upper respiratory tract infections, Respiratory insufficiency	ORPHA:333
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Recurrent pneumonia, Recurrent sinusitis, Shor...	OMIM:604173
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Microcephaly, Patent ductus arteriosus, Increased size of nasopharyngeal ...	ORPHA:457395
Diamond-Blackfan Anemia 10	Respiratory distress, Patent ductus arteriosus, Choanal atresia	OMIM:613309
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Anteverted nares, Choanal stenosis, Short nose	ORPHA:1790
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Depressed nasal ridge, H...	ORPHA:95494
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Repeated pneumothoraces, Narrow nose	OMIM:617602
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Microcephaly, Patent ductus arteriosus, Wide nasal bridge, Recurrent...	OMIM:213980
Microphthalmia With Limb Anomalies	Short nose, Flared nostrils, Depressed nasal bridge	OMIM:206920
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy	OMIM:183900
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted n...	OMIM:312870
Alg9-Cdg	Cerebellar atrophy, Depressed nasal bridge, Underdeveloped nasal alae, Asthma, Cerebral atrophy, ...	ORPHA:79328
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha...	ORPHA:2152
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Choanal atresia, Microcephaly, Subcortical cerebral atrophy, Cerebellar...	ORPHA:2273
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Short columella, S...	ORPHA:364577
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Myelomeningoc...	OMIM:306955
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Fibrochondrogenesis 1	Depressed nasal bridge, Stillbirth, Anteverted nares, Short nose	OMIM:228520
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Robinow Syndrome, Autosomal Recessive 2	Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip	OMIM:618529
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Hemiballismus, Prominent nasal tip, Short nose, Hyperventilation	ORPHA:522077
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Lipomyelome...	OMIM:616580
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Depressed nasal bridge, Microcephaly	OMIM:616723
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Biotinidase Deficiency	Respiratory distress, Myelopathy, Apnea, Hyperventilation	ORPHA:79241
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Short nose, Convex nasal ridge, Cerebellar c...	OMIM:619321
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Stuve-Wiedemann Syndrome 1	Anteverted nares, Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Wide nasal b...	OMIM:601559
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Prominent nasal bridge, Retrocerebellar cyst, Short nose, Convex nasal...	OMIM:601812
Antley-Bixler Syndrome	Short nose, Anteverted nares, Choanal atresia	ORPHA:83
Pallister-Hall Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Patent ductus arteriosus, Holoprosence...	OMIM:146510
Lathosterolosis	Anteverted nares, Microcephaly, Myelomeningocele, Wide nasal bridge, Cerebral atrophy, Chiari mal...	OMIM:607330
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Trichothiodystrophy 1, Photosensitive	Asthma, Short nose, Microcephaly	OMIM:601675
Distal Duplication 5Q	Short nose, Prominent nasal bridge, Microcephaly	ORPHA:96097
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Cenani-Lenz Syndrome	Short nose, Convex nasal ridge	ORPHA:3258
Schneckenbecken Dysplasia	Short nose, Stillbirth	OMIM:269250
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Cerebral atrophy, Choa...	OMIM:269150
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Broad nasal tip, Wide nasal bridge, Lateral ventricle dilatation, Short nose, V...	OMIM:615873
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Short nose, Depressed nasal bridge, Hypoplasia of the corpus callosum, Cerebral atrophy	OMIM:601353
Wiedemann-Rautenstrauch Syndrome	Anteverted nares, Wide nasal ridge, Hydrocephalus, Chiari type I malformation, Cerebellar hypopla...	ORPHA:3455
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Osteoglophonic Dysplasia	Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal congestion...	OMIM:166250
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Calcification of falx cerebri, Meningeal calcification,...	OMIM:154780
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal ala...	OMIM:619005
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Short nose, Spina bif...	OMIM:301030
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Esophageal Atresia	Respiratory distress, Choanal atresia, Episodic respiratory distress, Chronic pulmonary obstructi...	ORPHA:1199
Mosaic Variegated Aneuploidy Syndrome 2	Bulbous nose, Depressed nasal bridge, Short nose, Microcephaly	OMIM:614114
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Prominent nasal bridge, Broad nasal tip, Bif...	OMIM:616268
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Hydrocephalus, Apnea	OMIM:261740
Trisomy 17P	Hydrocephalus	ORPHA:261290
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Stillbirth, Short nose	OMIM:200600
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
Coffin-Siris Syndrome 1	Depressed nasal bridge, Choanal atresia, Broad nasal tip, Microcephaly, Partial agenesis of the c...	OMIM:135900
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Microcephaly, Cerebral atrophy, Short nose	OMIM:301040
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Ischemic stroke, Cough, Hyperventilation	ORPHA:90068
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Broad nasal tip, Microcephaly, Bulbous nose, Cerebral atrophy, Hypoplasia...	OMIM:309590
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Short nose	ORPHA:870
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hydrocephalus	OMIM:612301
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Trisomy 20P	Short nose, Anteverted nares, Spina bifida	ORPHA:261318
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Opsismodysplasia	Respiratory insufficiency, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:258480
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Otopalatodigital Syndrome, Type I	Short nose, Wide nasal bridge	OMIM:311300
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Macrocephaly/Autism Syndrome	Short nose, Depressed nasal bridge	OMIM:605309
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Hypoplasia of t...	ORPHA:268261
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Short nose	OMIM:305100
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Anteverted nares, Bulbous nose, Laryngotracheomalacia, Chiari malformatio...	OMIM:271510
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Fg Syndrome Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:93932
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Ventriculomegaly, Short nose	OMIM:230740
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, Bulbous nose, Hydrocephalus, Chiari malformation, Choana...	ORPHA:95699
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Secondary microcephaly, Primary microcephaly	ORPHA:476126
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus	OMIM:619575
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis, Abnormal pattern of ...	ORPHA:31826
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Distal Deletion 9P	Short nose, Wide nasal bridge	ORPHA:1642
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Bulbous nose, Tracheobronchomalacia, Wide na...	OMIM:613458
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease	OMIM:613848
Coccidioidomycosis	Respiratory distress, Pneumonia, Hydrocephalus, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Ctcf-Related Neurodevelopmental Disorder	Chronic lung disease, Anteverted nares, Broad nasal tip, Microcephaly, Patent ductus arteriosus, ...	ORPHA:363611
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Diffuse leukoencephalopathy, Hepatocellular necrosis	OMIM:256810
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Secondary microcephaly, Short nose	OMIM:608156
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Achondroplasia	Hydrocephalus	ORPHA:15
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Neonatal respiratory distress, Respiratory distress	OMIM:260400
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Histidinemia	Hyperactivity	ORPHA:2157
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
8Q24.3 Microdeletion Syndrome	Respiratory distress, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Patent ductus ar...	ORPHA:508488
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Narrow nasal ridge	OMIM:608612
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Atelosteogenesis, Type I	Encephalocele, Depressed nasal bridge, Stillbirth, Neonatal death, Short nose	OMIM:108720
Tuberous Sclerosis Complex	Respiratory distress, Cortical dysplasia, Noncommunicating hydrocephalus, Respiratory failure, Co...	ORPHA:805
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Focal T2 hyperintense basal ganglia lesion, Hyperv...	ORPHA:255210
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Robinow Syndrome, Autosomal Dominant 3	Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Wide nasal bridge, Short nose	OMIM:616894
Temtamy Preaxial Brachydactyly Syndrome	Short nose	ORPHA:363417
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Wiedemann-Steiner Syndrome	Short nose, Abnormal corpus callosum morphology, Wide nasal bridge, Microcephaly	ORPHA:319182
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:616331
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:210122
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Respiratory failure, Chylothorax	OMIM:620278
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Anteverted nares, Microcephaly	OMIM:615273
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Microcephaly, Hypoplasia of the corpus callosum, Short nose, N...	OMIM:301044
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Patent ductus arteriosus, Cerebral atrophy, Agenesis of corpus callo...	OMIM:261540
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Patent ductus arteriosus, Chiari type I malformation,...	OMIM:609942
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Respi...	ORPHA:536471
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Whipple Disease	Hydrocephalus	ORPHA:3452
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema, Microcephaly	OMIM:224690
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Microcephaly, Thick nasal septum, Short nose, Thick nasal alae, Broa...	OMIM:303600
Peters Plus Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Hydrocephalus, Patent ductus arteriosus, ...	ORPHA:709
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Microcephaly, Patent ductus arteriosus, Asthma, Aspiration pneumonia, Tracheoma...	ORPHA:444077
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre...	ORPHA:99646
Ayme-Gripp Syndrome	Depressed nasal bridge, Wide nasal bridge, Cerebral atrophy, Chiari type I malformation, Short nose	OMIM:601088
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:2554
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion	ORPHA:3260
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Microcephaly, Bulbous nose, Wide nasal base, Short nose, L...	OMIM:601358
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Baller-Gerold Syndrome	Narrow nasal bridge, Short nose, Prominent nasal bridge	ORPHA:1225
Scimitar Syndrome	Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension	ORPHA:185
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Diffuse cerebral atrophy, Microcephaly, Underdeveloped nasal alae, Wide nas...	ORPHA:83617
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Wide nasal bridge	OMIM:119600
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Microcephaly, Bulbous nose, Hydrocephalus, Wide nasal bridge, Depressed nasal t...	OMIM:619475
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Cerebellar hypoplasia, Hypoplasia o...	OMIM:216340
Mirage Syndrome	Hydrocephalus	OMIM:617053
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Listeriosis	Abnormal brainstem MRI signal intensity, Respiratory failure, Pneumonia, Respiratory distress	ORPHA:533
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough	ORPHA:537
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Short nose	ORPHA:109
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Patent ductus arteriosus, Wheezing, Dyspnea, Upper airwa...	ORPHA:141127
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Hurler Syndrome	Hydrocephalus	OMIM:607014
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido...	ORPHA:79404
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Geleophysic Dysplasia 2	Pulmonary arterial hypertension, Short nose, Respiratory insufficiency	OMIM:614185
Orofaciodigital Syndrome Type 4	Wide nose, Choanal atresia, Microcephaly, Depressed nasal ridge, Subcortical cerebral atrophy, Ce...	ORPHA:2753
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Convex nasal ridge	ORPHA:90154
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Townes-Brocks Syndrome	Patent ductus arteriosus, Chiari malformation, Agenesis of corpus callosum	ORPHA:857
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Dandy-Walker malformation	ORPHA:2162
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Dextrocardia	Hydrocephalus	ORPHA:1666
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Microcephaly, Asthma, Recu...	OMIM:620330
Pallister-Hall Syndrome	Abnormal basal ganglia MRI signal intensity, Anteverted nares, Choanal atresia, Patent ductus art...	ORPHA:672
Mohr Syndrome	Hydrocephalus	OMIM:252100
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephaly, Wide nasal bridge, Narro...	OMIM:617157
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Craniofacial Microsomia 1	Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Chiari malformation, Agenesis o...	OMIM:164210
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Depressed nasal bridge, Convex nasal ridge	OMIM:300661
Autosomal Recessive Robinow Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	ORPHA:1507
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Medulloblastoma	Hydrocephalus	ORPHA:616
Robinow Syndrome, Autosomal Recessive 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:268310
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Prominent nose, Respiratory ac...	OMIM:614748
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Deeah Syndrome	Neonatal respiratory distress, Prominent nasal tip, Short nose	OMIM:619004
7Q11.23 Microduplication Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Neonatal respiratory distress, Depressed nasal bridge, Apnea, Prominent nose, Asthma, Prominent n...	OMIM:619503
Spondylocarpotarsal Synostosis Syndrome	Restrictive ventilatory defect, Short nose, Anteverted nares, Broad nasal tip	OMIM:272460
Cornelia De Lange Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Microcephaly, Aplasia/Hypoplasia of th...	ORPHA:199
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Microcephaly, Wide nasal bri...	ORPHA:2729
H Syndrome	Hydrocephalus	ORPHA:168569
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Recurrent pneumonia, Depressed nasal ridge, Restrictive ventilatory defec...	OMIM:271665
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Short nose, Short columella, Ventriculomegaly	OMIM:601776
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor...	OMIM:229400
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Autosomal Dominant Robinow Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	ORPHA:3107
Aortic Arch Interruption	Respiratory distress, Patent ductus arteriosus, Tachypnea, Exertional dyspnea	ORPHA:2299
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:50945
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	ORPHA:581
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short nose, Wide nasal bridge, Microcephaly	OMIM:609945
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Robinow Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Flared nostrils, Short nose	ORPHA:97360
Gitelman Syndrome	Respiratory distress, Cerebral calcification	ORPHA:358
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Prominent nasal bridge	ORPHA:1974
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Patent ductus arteriosus, Depressed nasal bridge	OMIM:617088
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
C Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Aplasia/Hypoplasia of the corpus callosum...	ORPHA:1308
Rothmund-Thomson Syndrome, Type 2	Short nose, Depressed nasal bridge	OMIM:268400
Faciodigitogenital Syndrome, Autosomal Recessive	Short nose, Anteverted nares, Prominent nasal bridge	OMIM:227330
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Microcephaly, Bulbous nose, Patent ductus arteriosu...	OMIM:619522
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Renal tubula...	ORPHA:95455
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:2462
Sponastrime Dysplasia	Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Recurrent pneumon...	ORPHA:93357
Bartsocas-Papas Syndrome 1	Short nose, Underdeveloped nasal alae	OMIM:263650
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Patent ductus arteriosus...	ORPHA:97214
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress	OMIM:617156
Phocomelia, Schinzel Type	Short nose, Meningocele	ORPHA:2879
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Recurre...	OMIM:618332
Acrocephalopolydactylous Dysplasia	Short nose	OMIM:200995
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Depressed nasal bridge, Anteverted nares, Abnormal midbrain morphology, Central ...	ORPHA:293987
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:1519
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Geleophysic Dysplasia 1	Short nose, Anteverted nares	OMIM:231050
22Q11.2 Deletion Syndrome	Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele	ORPHA:567
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Fanconi Anemia	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:84
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Williams Syndrome	Atrophy/Degeneration involving the corticospinal tracts, Microcephaly, Patent ductus arteriosus, ...	ORPHA:904
Ulbright-Hodes Syndrome	Respiratory distress, Depressed nasal bridge, Pneumothorax, Respiratory failure, Convex nasal ridge	ORPHA:3404
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
1P21.3 Microdeletion Syndrome	Short nose, Broad nasal tip	ORPHA:293948
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly	ORPHA:666
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Narrow nasal ridge, Pulmonary arterial hypertension, Pleural effusion, ...	OMIM:606721
Robinow Syndrome, Autosomal Dominant 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:180700
Pallister-Killian Syndrome	Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Wide nasal bridge, Apneic epi...	OMIM:601803
Stickler Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	ORPHA:828
Omodysplasia 1	Short nose, Depressed nasal bridge, Wide nasal bridge	OMIM:258315
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Meningioma	Hydrocephalus	ORPHA:2495
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Patent ductus arteriosus	ORPHA:2255
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2072
Williams-Beuren Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Chiari type I malformation, Cerebellar...	OMIM:194050
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Hydrocephalus	OMIM:219000
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Kabuki Syndrome 1	Lateral ventricle dilatation, Hydrocephalus	OMIM:147920
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Patent ductus arteriosu...	ORPHA:99125
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cerebral calcification, Encephalomalacia	ORPHA:51608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Leptospirosis	Respiratory distress, Pleural effusion, Cough	ORPHA:509
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Pmm2-Cdg	Respiratory distress, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Pro...	ORPHA:79318
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Femoral-Facial Syndrome	Short nose, Underdeveloped nasal alae	OMIM:134780
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus	OMIM:619534
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus	OMIM:619325
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Aspartylglucosaminuria	Short nose, Wide nasal bridge	ORPHA:93
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	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, Chronic pulmonary obstruction...	ORPHA:64
Congenital Fibrosis Of Extraocular Muscles	Polymicrogyria, Optic nerve hypoplasia	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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