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Gene: Gas8 MGI:1202386

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

growth arrest specific 8

Synonyms:

Gas11

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Gas8 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 Gas8 (2 diseases)
Human diseases predicted to be associated with Gas8 (508 diseases)

The table below shows human diseases associated to Gas8 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 33		Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia	OMIM:616726
Primary Ciliary Dyskinesia		Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Situs i...	ORPHA:244

The table below shows human diseases predicted to be associated to Gas8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro...	OMIM:614017
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Absent outer dyn...	OMIM:614874
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restri...	OMIM:611884
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot...	OMIM:613193
Ciliary Dyskinesia, Primary, 28	Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Situs inversus tota...	OMIM:615505
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:615481
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	OMIM:615451
Ciliary Dyskinesia, Primary, 32	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:616481
Ciliary Dyskinesia, Primary, 14	Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Wheezing, Recurr...	OMIM:613807
Ciliary Dyskinesia, Primary, 26	Neonatal respiratory distress, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, ...	OMIM:615500
Ciliary Dyskinesia, Primary, 3	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas...	OMIM:608644
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronc...	OMIM:612444
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Abnormal resp...	OMIM:612518
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Immo...	OMIM:614935
Ciliary Dyskinesia, Primary, 6	Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci...	OMIM:610852
Ciliary Dyskinesia, Primary, 27	Neonatal respiratory distress, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxi...	OMIM:615504
Ciliary Dyskinesia, Primary, 17	Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Bronchiectasis, Chronic rh...	OMIM:614679
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Reduced forced expiratory volume in one second, Reduced respiratory ciliary beati...	OMIM:618300
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Situs inversus totalis, Absent outer dynein arms, Asthma, Bronchiectasis, Respir...	OMIM:616037
Ciliary Dyskinesia, Primary, 12	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:612650
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Bronchiectasis, Decrease...	OMIM:618063
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decreased...	OMIM:615444
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Wheezing, Recurrent pneum...	OMIM:613808
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent ...	OMIM:606763
Ciliary Dyskinesia, Primary, 11	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Abnormal central mic...	OMIM:612649
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic co...	OMIM:620197
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, Bron...	OMIM:608647
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini...	OMIM:242670
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology	OMIM:215520
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr...	OMIM:617091
Ciliary Dyskinesia, Primary, 25	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Chronic pulmonary obstru...	OMIM:615482
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:615294
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis	OMIM:615872
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Absent outer dyn...	OMIM:244400
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia	OMIM:616726
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology	OMIM:225050
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Productive cough, Situs inversus totalis, Absent outer dynein arms, Recurr...	OMIM:615067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Ciliary dyskinesia	ORPHA:1882
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Bronchiectasis, Noncommunicating hydrocephalus, ...	OMIM:618699
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A...	OMIM:276950
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
1Q21.1 Microduplication Syndrome	Hydrocephalus, Gastroesophageal reflux	ORPHA:250994
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Fried Syndrome	Hydrocephalus, High palate	ORPHA:85335
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dysphagia, Mecke...	ORPHA:163961
Corpus Callosum, Partial Agenesis Of, X-Linked	High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Neonatal death, Anal atr...	OMIM:314390
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, Respiratory insufficiency, CSF lymphocytic pleiocytosis	OMIM:610333
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Situs i...	ORPHA:244
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced fo...	OMIM:613686
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Pyloric stenos...	OMIM:310400
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Inspiratory stridor	OMIM:207950
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Situs inversus totalis, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spi...	ORPHA:1908
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Respiratory insufficiency	OMIM:613153
Vitamin K Antagonist Embryofetopathy	Macroglossia, Myelomeningocele, Hydrocephalus, Respiratory insufficiency	ORPHA:1914
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Joubert Syndrome	Encephalocele, Apnea, Episodic tachypnea, Aganglionic megacolon, Situs inversus totalis, Hydrocep...	ORPHA:475
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly	ORPHA:2770
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Hydrocephalus, Ventriculomegaly	OMIM:218350
Rhombencephalosynapsis	Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis...	ORPHA:59315
Renpenning Syndrome	Heterotaxy, Cleft palate, High, narrow palate, Anal atresia	ORPHA:3242
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Coach Syndrome 2	Hydrocephalus, Apneic episodes in infancy	OMIM:619111
Houge-Janssens Syndrome 1	Pyloric stenosis, Hydrocephalus, Ventriculomegaly	OMIM:616355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Hydrocephalus	OMIM:613155
Bresek Syndrome	Neonatal death, Hydrocephalus, Aganglionic megacolon, Cleft palate	ORPHA:85284
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Hydrolethalus	Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Bifid uvula, Tracheal atresia	ORPHA:2189
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, High palate	OMIM:300558
Infantile Sialic Acid Storage Disease	Hydrocephalus, High palate	OMIM:269920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Esophageal atresia, Tracheoesophageal fistula	ORPHA:77298
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal reflux, Abnormal in...	ORPHA:1834
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Crouzon Syndrome	Narrow palate, Hydrocephalus, Respiratory insufficiency	ORPHA:207
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:175700
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Microglossia, Cleft palate	OMIM:241800
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Edinburgh Malformation Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:1895
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:93262
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly, Respiratory insufficiency	ORPHA:2655
Metatropic Dysplasia	Hydrocephalus, Cleft palate	ORPHA:2635
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H...	ORPHA:93259
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia	ORPHA:3016
Dextrocardia	Intestinal malrotation, Situs inversus totalis, Hydrocephalus, Abnormality of abdominal situs, Me...	ORPHA:1666
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Arachnoiditis	Hydrocephalus	ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Temple Syndrome	Hydrocephalus, Bifid uvula	ORPHA:254516
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Ventriculomegaly	OMIM:620156
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Temple Syndrome	Hydrocephalus, High palate, Bifid uvula, Cleft palate	OMIM:616222
Emanuel Syndrome	Ventriculomegaly, Intestinal malrotation, Hydrocephalus, Cleft palate, High palate, Gastroesophag...	OMIM:609029
Fanconi Anemia, Complementation Group B	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Ventriculomegaly, Duodenal atresia	OMIM:300514
Triploidy	Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Holoprosencephaly	ORPHA:3376
Czeizel-Losonci Syndrome	Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, High palate, Spina bifi...	ORPHA:2437
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, High palate, Ventriculomegaly	OMIM:609757
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Emanuel Syndrome	Hydrocephalus, Cleft palate, Dysphagia, Ectopic anus, High palate, Gastroesophageal reflux, Cough...	ORPHA:96170
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Ritscher-Schinzel Syndrome 1	Cleft palate, Hydrocephalus, Anal atresia, Dandy-Walker malformation	OMIM:220210
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
3C Syndrome	Intestinal malrotation, High, narrow palate, Hydrocephalus, Cleft palate, Ectopic anus, Gastroeso...	ORPHA:7
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Joubert Syndrome With Renal Defect	Encephalocele, Apnea, Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal pattern of res...	ORPHA:220497
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Gastroesophageal reflux,...	OMIM:616482
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Colpocephaly, High palate, Gastroesophageal reflux, Ventriculomegaly	OMIM:619833
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Macroglossia, Ventriculomegaly	ORPHA:370959
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Tenorio Syndrome	Apnea, Hydrocephalus, Recurrent pneumonia, Macroglossia, Gastroesophageal reflux, Ventriculomegaly	OMIM:616260
Griscelli Syndrome	Encephalocele, Pyloric stenosis, Hydrocephalus	ORPHA:381
Fg Syndrome Type 1	Anal atresia, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Hydroc...	ORPHA:93932
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Tachypnea	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Esophageal varix, Ventriculomegaly, Inflammation of the large intestine	OMIM:614576
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Anteriorly...	OMIM:612863
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
1Q44 Microdeletion Syndrome	Hydrocephalus, High palate, Intestinal malrotation, Ventriculomegaly	ORPHA:238769
Joubert Syndrome With Ocular Defect	Encephalocele, Apnea, Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal pattern of res...	ORPHA:220493
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, High palate	ORPHA:2180
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Double Outlet Right Ventricle	Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Heterotaxy	ORPHA:3426
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Thanatophoric Dysplasia, Type I	Neonatal death, Neonatal respiratory distress, Hydrocephalus	OMIM:187600
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Lowry-Maclean Syndrome	Midgut malrotation, High, narrow palate, Hydrocephalus, Pyloric stenosis, Cleft palate	ORPHA:2409
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Tetraamelia-Multiple Malformations Syndrome	Tracheal stenosis, Hydrocephalus, Anal atresia	ORPHA:3301
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Hydrocephalus, Cleft palate, Bifid uvula, Dandy-Walker malformation	OMIM:612938
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly	OMIM:617866
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, High palate, Pleural effusion, Dandy-Walker malformation	OMIM:617822
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Asthma, Recurrent pneumonia, Hydrocephalus, Macroglossia, Tracheob...	OMIM:309900
Apert Syndrome	Esophageal atresia, Hydrocephalus, Respiratory insufficiency, Narrow palate, Cleft palate, Ectopi...	ORPHA:87
Muenke Syndrome	High, narrow palate, Hydrocephalus	ORPHA:53271
Chromosome 6Pter-P24 Deletion Syndrome	Anal atresia, Hydrocephalus, High palate, Dandy-Walker malformation	OMIM:612582
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Respiratory insufficiency	ORPHA:1237
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ...	ORPHA:3412
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Diabetic Embryopathy	Hydrocephalus, Cleft palate, Spinal dysraphism	ORPHA:1926
Pontocerebellar Hypoplasia, Type 7	High palate, Hydrocephalus, Apnea, Ventriculomegaly	OMIM:614969
Whipple Disease	Gastrointestinal hemorrhage, Malabsorption, Hydrocephalus, Respiratory insufficiency, Cough	ORPHA:3452
Hec Syndrome	Communicating hydrocephalus, Respiratory insufficiency	ORPHA:2119
Trisomy 1Q	Cleft palate, Hydrocephalus, Anal atresia, Ventriculomegaly	ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Asthma, Hydrocephalus	OMIM:619377
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Stillbirth, Duodenal atresia	OMIM:243605
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Cleft palate, Dandy-Walker malformation	OMIM:614424
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Respiratory insufficiency	ORPHA:1860
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Joubert Syndrome 2	Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus...	OMIM:608091
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Hydrocephalus, Esophageal varix, Pulmonary arterial h...	ORPHA:974
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Cleft palate, Anteriorly placed anus, Abnormal rectum morph...	OMIM:239300
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Hydrocephalus	OMIM:615249
Fanconi Anemia, Complementation Group R	Hydrocephalus, Anal atresia	OMIM:617244
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Tracheal atresia	OMIM:617667
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Asthma, Hydrocephalus, Gastroesophageal reflux, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, High palate	ORPHA:3309
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus, High palate, Respiratory insufficiency	OMIM:620351
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus	ORPHA:1555
Short-Rib Thoracic Dysplasia 12	Intestinal malrotation, Hamartoma of tongue, Hydrocephalus, Anencephaly, Respiratory insufficienc...	OMIM:269860
Walker-Warburg Syndrome	Hydrocephalus, Submucous cleft hard palate, Cleft palate, Dandy-Walker malformation, Bifid uvula,...	ORPHA:899
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus, Ventriculomegaly	OMIM:616538
Trisomy 17P	Macroglossia, Hydrocephalus, High palate, Cleft palate	ORPHA:261290
Icf Syndrome	Communicating hydrocephalus, Macroglossia, Malabsorption, Protruding tongue	ORPHA:2268
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cleft palate, Hydrocephalus, Respiratory insufficiency	ORPHA:1865
Achondroplasia	Hypoxemia, Restrictive ventilatory defect, Hydrocephalus	ORPHA:15
Cutis Laxa, Autosomal Recessive, Type Iib	Gastroesophageal reflux, Hydrocephalus, High palate	OMIM:612940
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Mirage Syndrome	Hydrocephalus, Esophageal stricture, Gastroesophageal reflux, Aspiration pneumonia, Achalasia	OMIM:617053
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cleft palate, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Partial Atrioventricular Septal Defect	Heterotaxy, Exertional dyspnea	ORPHA:1330
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Bifid uv...	OMIM:123790
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hydrocephalus	OMIM:601499
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia	ORPHA:2839
Desmosterolosis	Intestinal malrotation, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvula, Ve...	ORPHA:35107
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Hydrocephalus	OMIM:259710
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Cole-Carpenter Syndrome 2	Hydrocephalus, High palate	OMIM:616294
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Thakker-Donnai Syndrome	Communicating hydrocephalus, Rectovaginal fistula, Tracheoesophageal fistula, Anal atresia	ORPHA:1780
47,Xyy Syndrome	Asthma, Hydrocephalus	ORPHA:8
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Opitz-Kaveggia Syndrome	Anal stenosis, Intestinal malrotation, Pyloric stenosis, Hydrocephalus, Narrow palate, Cleft pala...	OMIM:305450
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Apnea, Hydrocephalus, Neoplasm of the liver, Abnormal pattern of respira...	ORPHA:1454
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Anal atresia, Median cleft lip and palate	OMIM:264480
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Malabsorption, Hydrocephalus, Cough	ORPHA:579
Rabin-Pappas Syndrome	Tracheomalacia, Hypoventilation, Hydrocephalus	OMIM:620155
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Tracheoesophageal fistula	ORPHA:268249
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Cleft palate	OMIM:224400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly, Respiratory insufficiency	OMIM:253800
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cleft palate, Hydrocephalus, Ventriculomegaly	ORPHA:1812
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Apnea, Intestinal malrotation, Hydrocephalus, Cleft palate, High palate, Gastroeso...	OMIM:300373
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Gracile Bone Dysplasia	Hydrocephalus, Ankyloglossia	OMIM:602361
Dubowitz Syndrome	Anal stenosis, Malabsorption, Rectal prolapse, Asthma, Hydrocephalus, Submucous cleft hard palate...	ORPHA:235
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, High palate, High, narrow palate	OMIM:616914
Pfeiffer Syndrome	Hydrocephalus, High palate	OMIM:101600
Apert Syndrome	Esophageal atresia, Hydrocephalus, Pyloric stenosis, Cleft palate, Narrow palate, Ectopic anus, B...	OMIM:101200
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth, Hydrocephalus, Ventriculomegaly	OMIM:259720
Mohr Syndrome	Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue	OMIM:252100
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Anal atresia	OMIM:614083
Marshall-Smith Syndrome	Apnea, Pyloric stenosis, Hydrocephalus, Stridor, Anteriorly placed anus, Glossoptosis, High palat...	OMIM:602535
Congenital Sialidosis Type 2	Hydrocephalus, Protruding tongue	ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Ventriculomegaly	OMIM:613150
Crouzon Syndrome	Hydrocephalus, High palate	OMIM:123500
Genitopalatocardiac Syndrome	Hydrocephalus, Cleft palate	ORPHA:2075
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Apnea, Ventriculomegaly	ORPHA:395
15Q Overgrowth Syndrome	High, narrow palate, Hydrocephalus, High palate, Pulmonary arterial hypertension, Bifid uvula, Da...	ORPHA:314585
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect...	ORPHA:538
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Cleft palate, Dandy-Walker malformation, Ventriculomegaly, Duodenal atresia	OMIM:257300
Distal Triplication 15Q	Hydrocephalus, High palate, Dandy-Walker malformation	ORPHA:314588
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Asthma, High palate, Allergic rhinitis	OMIM:618162
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Right atrial isomerism, Aqueductal stenosis, Posteriorly placed anus, Myelo...	OMIM:306955
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, High palate, Cleft palate	OMIM:130720
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Heterotaxy, Visceral, 7, Autosomal	Situs inversus totalis, Heterotaxy, Intestinal malrotation	OMIM:616749
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, High palate, Dysphagia	ORPHA:58
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, High palate	ORPHA:2720
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Upper airway obstruction	OMIM:207410
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Hydrocephalus, High palate, Spina bifida	OMIM:613776
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Neonatal respiratory distress, Hydrocephalus, Ventriculomegaly	ORPHA:228308
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, High palate	OMIM:618590
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:613603
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Holoprosencephaly, Anal atresia	ORPHA:2166
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Hydrocephalus, Stridor, Macroglossia, Recurrent gastroenteritis, Pulmonary ...	ORPHA:505248
Mucopolysaccharidosis, Type Vii	Macroglossia, Hydrocephalus, Airway obstruction	OMIM:253220
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital meningocele, Ventriculom...	OMIM:616546
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
H Syndrome	Hydrocephalus, Bronchiectasis, Chronic rhinitis, Malabsorption	ORPHA:168569
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Meckel Syndrome	Encephalocele, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Hydrocephalus, Anencepha...	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal atresia, Dandy-W...	OMIM:236670
Achondroplasia	Respiratory distress, Hydrocephalus, Upper airway obstruction	OMIM:100800
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Holoprosencephaly	Encephalocele, Median cleft lip and palate, Hydrocephalus, Respiratory insufficiency, Spinal dysr...	ORPHA:2162
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle...	OMIM:610828
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Coccidioidomycosis	Respiratory distress, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Pl...	ORPHA:228123
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, High palate, Dandy-Walker malformation...	OMIM:605627
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Tracheal stenosis, Cleft palate, Hydrocephalus, Respiratory insufficiency	ORPHA:163979
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion	ORPHA:1546
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict...	ORPHA:536467
Sturge-Weber Syndrome	Hydrocephalus, Dysphagia, Pulmonary embolism	ORPHA:3205
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Cleft palate, Anteriorly placed anus, Colpocephaly, Colonic atresia, Anal atresia	OMIM:309801
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Median cleft palate, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Raine Syndrome	Protruding tongue, Hydrocephalus, Cleft palate, High palate, Neonatal death	OMIM:259775
Marden-Walker Syndrome	Situs inversus totalis, Pyloric stenosis, Hydrocephalus, Submucous cleft hard palate, Cleft palat...	ORPHA:2461
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia	ORPHA:25
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, Hydrocephalus, Submucous cleft hard palate, High palate	OMIM:115150
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Hydrocephalus, Submucous cleft hard palate, Functional...	ORPHA:1340
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Gastroesophageal reflux, Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate	ORPHA:300570
Semilobar Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Neural tube defect, Bifid uvula, High palate, Gastroe...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Neural tube defect, Bifid uvula, High palate, Gastroe...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Neural tube defect, Bifid uvula, High palate, Gastroe...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Neural tube defect, Bifid uvula, High palate, Gastroe...	ORPHA:93924
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated third ven...	OMIM:619575
Mucopolysaccharidosis Type 3	Malabsorption, Hydrocephalus, Upper airway obstruction, Macroglossia, Aspiration pneumonia, Dysph...	ORPHA:581
Mucopolysaccharidosis, Type Vi	Pneumonia, Hydrocephalus, Restrictive ventilatory defect, Cervical myelopathy, Macroglossia, Pulm...	OMIM:253200
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Pyloric stenosis	ORPHA:1571
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Achalasia	OMIM:616007
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Hydrocephalus	ORPHA:157
Shprintzen-Goldberg Craniosynostosis Syndrome	Gastroesophageal reflux, Hydrocephalus, High palate, Narrow palate	OMIM:182212
Medulloblastoma	Hydrocephalus, Adenomatous colonic polyposis	ORPHA:616
Desmosterolosis	Cleft palate, Hydrocephalus, Ventriculomegaly	OMIM:602398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Hurler Syndrome	Macroglossia, Hydrocephalus	OMIM:607014
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus, Cleft palate, Glossoptosis	ORPHA:90652
Monosomy 18Q	Hydrocephalus, High palate	ORPHA:1600
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Hydrocephalus, Macroglossia, Pleural effusion	OMIM:261740
Fanconi Anemia	Ventriculomegaly, Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydroceph...	ORPHA:84
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Microglossia, Cleft palate	OMIM:260660
Jacobsen Syndrome	Pyloric stenosis, Hydrocephalus, Holoprosencephaly	OMIM:147791
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus, Cleft palate	OMIM:245600
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, High palate	OMIM:104350
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula	OMIM:227646
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Hydrocephalus, Pulmonary arterial hypertension, Glossitis	ORPHA:79282
Basal Cell Nevus Syndrome 1	Cleft palate, Hydrocephalus, Hamartomatous stomach polyps, Spina bifida	OMIM:109400
Hurler Syndrome	Macroglossia, Hydrocephalus, Rhinitis	ORPHA:93473
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Apnea, High, narrow palate, Gastroesophageal reflux, Ventriculomegaly	ORPHA:2462
Hypoplasminogenemia	Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation	ORPHA:722
7Q11.23 Microduplication Syndrome	Tracheomalacia, Hydrocephalus, High palate, Ventriculomegaly	ORPHA:96121
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Submucou...	OMIM:114290
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Ankyloglossia, High palate	ORPHA:250989
Orofaciodigital Syndrome I	Hamartoma of tongue, Myelomeningocele, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated ton...	OMIM:311200
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Spina bifida, Asthma,...	ORPHA:567
Neurooculorenal Syndrome	Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Anteriorly placed anus, Ventriculomegaly	OMIM:620305
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Intestinal malrotation, Hydr...	OMIM:249000
Isotretinoin-Like Syndrome	Hydrocephalus, Gastroesophageal reflux, Cleft palate	ORPHA:2306
Costello Syndrome	Pyloric stenosis, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Macroglossia, Respirato...	OMIM:218040
Oeis Complex	Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis...	OMIM:258040
Histiocytoid Cardiomyopathy	Hydrocephalus, Tachypnea, Cleft palate, Cough	ORPHA:137675
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Hydrocephalus, Gastrointestinal ...	OMIM:270400
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation	OMIM:612301
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus, High palate	OMIM:619512
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Hydrocephalus, Anteriorly placed anus, Stillbirth, Gastroesophageal reflux	ORPHA:95699
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus, Epistaxis	ORPHA:137667
Fontaine Progeroid Syndrome	Protruding tongue, High, narrow palate, Hydrocephalus, Pneumothorax, Respiratory insufficiency, A...	OMIM:612289
Trisomy 8P	Hydrocephalus, Malrotation of small bowel, Cleft palate, Bifid uvula, Dandy-Walker malformation	ORPHA:264450
Aymé-Gripp Syndrome	Cleft palate, Hydrocephalus, Ventriculomegaly	ORPHA:1272
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Cleft palate, Abnormal...	ORPHA:2369
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Hydrocephalus, Esophageal varix, Gastric ulcer, Pulmonary arter...	ORPHA:2072
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Velopharyngeal insufficiency, Cleft pa...	OMIM:154400
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Kabuki Syndrome 1	Anal stenosis, Intestinal malrotation, Malabsorption, Hydrocephalus, Cleft palate, Lateral ventri...	OMIM:147920
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Abnormal rectum morphology, Ab...	ORPHA:2556
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Kabuki Syndrome	Cleft palate, Hydrocephalus, High palate, Ventriculomegaly	ORPHA:2322
Hajdu-Cheney Syndrome	Hydrocephalus, High palate, Intestinal malrotation	OMIM:102500
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
Mend Syndrome	Cleft palate, Hydrocephalus, High palate, Dandy-Walker malformation	ORPHA:401973
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Hajdu-Cheney Syndrome	Hydrocephalus, Intestinal malrotation, Cleft palate	ORPHA:955
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Hydrocephalus, Short uvula, High palate, Ankyloglossia, Decreased CSF 5-meth...	OMIM:619475
Gaucher Disease	Hydrocephalus, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Ventriculom...	ORPHA:355
Holoprosencephaly 9	Hydrocephalus, Cleft palate, Bilateral cleft lip and palate, Holoprosencephaly, Short hard palate	OMIM:610829
Meningioma	Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi...	ORPHA:2495
Koolen-De Vries Syndrome Due To A Point Mutation	Tracheomalacia, Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Tracheomalacia, Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363958
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:2658
Osteogenesis Imperfecta	Neonatal respiratory distress, Intestinal obstruction, Hydrocephalus, Noncommunicating hydrocepha...	ORPHA:666
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Diets-Jongmans Syndrome	Heterotaxy, Duodenal atresia	OMIM:618846
Distal 22Q11.2 Microduplication Syndrome	Macroglossia, Hydrocephalus, High palate, Anal atresia	ORPHA:261337
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Isomerism, High palate, Intestinal malrotation	OMIM:619657
Hydrolethalus Syndrome 1	Anencephaly, Cleft palate, Stillbirth, Severe hydrocephalus, Tracheal stenosis, Dandy-Walker malf...	OMIM:236680
Mend Syndrome	Hydrocephalus, High palate, Dandy-Walker malformation	OMIM:300960
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Macroglossia, Pneumonia, Recurrent gastroenteritis	ORPHA:309282
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Respiratory insufficiency, Colpocephaly, Stillbirth, Lateral ventricle dilatation,...	OMIM:210710
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Hydrocephalus, Tracheoesophageal fistula, Gastroesophageal ...	OMIM:107480
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Hydrocephalus, Cleft palate, Stillbirth, High palate	OMIM:208150
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Hydrocephalus, Apnea, Chronic rhinitis	ORPHA:667
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Dysphagia	ORPHA:637
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Myelomeningocele, Hydrocephalus, Cleft palate...	OMIM:219000
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, High palate, Ventriculomegaly	OMIM:617011
Baller-Gerold Syndrome	Hydrocephalus, Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High...	OMIM:218600
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Hydrocephalus, Cleft soft palate	OMIM:619321
Tetraamelia Syndrome 1	Anal atresia, Hydrocephalus, Cleft palate	OMIM:273395
Microphthalmia With Limb Anomalies	Hydrocephalus, High palate, Cleft palate	ORPHA:1106
Yunis-Varon Syndrome	Pyloric stenosis, Hydrocephalus, High, narrow palate, Glossoptosis, Pulmonary arterial hypertension	ORPHA:3472
Biliary, Renal, Neurologic, And Skeletal Syndrome	Situs inversus totalis, Aqueductal stenosis, Asthma, Hydrocephalus, Esophageal varix, Lateral ven...	OMIM:619534
Focal Dermal Hypoplasia	Intestinal malrotation, Hiatus hernia, Hydrocephalus, Myelomeningocele, Cleft palate, Anteriorly ...	OMIM:305600
Loeys-Dietz Syndrome 1	Cleft palate, Hydrocephalus, Bifid uvula, Eosinophilic infiltration of the esophagus	OMIM:609192
Tetrasomy 9P	Hydrocephalus, Cleft palate, High palate, Pulmonary arterial hypertension, Bifid uvula, Dandy-Wal...	ORPHA:3310
Pseudoaminopterin Syndrome	Hydrocephalus, High palate	ORPHA:221120
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Respiratory insufficiency, Cleft palate, Respiratory failure, Stillb...	OMIM:304120
Wolf-Hirschhorn Syndrome	Hydrocephalus, Malrotation of small bowel, Cleft palate, Gastroesophageal reflux, Ventriculomegaly	OMIM:194190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, High palate, Ventriculomegaly	ORPHA:457359
Mucopolysaccharidosis Type 2	Abnormal nasal mucus secretion, Macroglossia, Communicating hydrocephalus, Upper airway obstruction	ORPHA:580
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Neonatal respiratory distress, Intestinal malrotation, Hydrocep...	OMIM:312870
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Submucous cleft hard palate, Lateral ventricle dilatation, High palate, Gastroesop...	OMIM:607872
Peters Plus Syndrome	Intestinal fistula, Hydrocephalus, Cleft palate, Anal atresia, Spina bifida occulta, Ventriculome...	ORPHA:709
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Epistaxis, Asthma, Mild fetal ventriculomegaly, Ankyloglossia	OMIM:619841
Loeys-Dietz Syndrome 2	Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Hydrocephalus, Cleft palate...	OMIM:610168
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Pneumonia, Dandy-Walker malformation, Dysphagia	OMIM:264090
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Anal atresia	ORPHA:322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Neurofibromatosis Type 1	Neoplasm of the gastrointestinal tract, Hydrocephalus	ORPHA:636
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommunicating hydro...	OMIM:619325
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Sinusitis, High palate	ORPHA:363700
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Heterotaxy, Apneic epis...	ORPHA:99125
Peters-Plus Syndrome	Anteriorly placed anus, Cleft palate, Hydrocephalus, Ventriculomegaly	OMIM:261540
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Wiedemann-Rautenstrauch Syndrome	Submucous cleft soft palate, Hydrocephalus	ORPHA:3455
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Cleft palate, Stillbirth, High palate	OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Cleft palate	OMIM:164210

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 Gas8

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 Gas8.

No publications found that use IMPC mice or data for Gas8.

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MGI Allele	Allele Type	Produced
Gas8^em1(IMPC)Bay	Exon Deletion	Mice

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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