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Gene: Tmem63c MGI:2444386

Gene Summary

Name:

transmembrane protein 63c

Synonyms:

9330187M14Rik

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	Allele	Zyg	Life Stage	P Value
hydrocephaly	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal brain morphology	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal liver morphology	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
enlarged heart	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal heart morphology	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
increased total body fat amount	Tmem63c^{em1(IMPC)Rbrc}	HOM	Early adult	3.43×10^-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

21 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tmem63c 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 Tmem63c (1 diseases)
Human diseases predicted to be associated with Tmem63c (562 diseases)

The table below shows human diseases associated to Tmem63c by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spastic Paraplegia 87, Autosomal Recessive			OMIM:619966

The table below shows human diseases predicted to be associated to Tmem63c by phenotypic similarity.

Disease	Matching phenotypes	Source
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor...	OMIM:607091
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Edinburgh Malformation Syndrome	Jaundice, Hydrocephalus	OMIM:129850
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Cardiomegaly	OMIM:300886
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Ventriculomegaly	ORPHA:858
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B...	OMIM:607361
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology	ORPHA:2185
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF...	OMIM:610333
1Q21.1 Microduplication Syndrome	Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus	OMIM:300884
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis	ORPHA:615
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepat...	OMIM:619111
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus	ORPHA:163596
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly	OMIM:269920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibros...	OMIM:615630
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol...	OMIM:611134
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Nephronophthisis 18	Hydrocephalus, Portal fibrosis, Cholestasis	OMIM:615862
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology	OMIM:276950
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Mitral valve prolapse	ORPHA:2183
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Hypertrophic cardiomyopathy, Ventri...	OMIM:619051
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Fried Syndrome	Hydrocephalus	ORPHA:85335
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy,...	ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ventriculomegaly	OMIM:253250
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ...	OMIM:220210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:602501
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi...	OMIM:235200
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly	ORPHA:272
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Hydrocephalus	OMIM:613155
Aase-Smith Syndrome I	Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Triploidy	Hepatomegaly, Abnormality of the pancreas, Hydrocephalus, Abnormality of the gallbladder, Meningo...	ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop...	OMIM:201475
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephal...	OMIM:614576
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Abnormal heart morphology	OMIM:175700
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculomegaly	ORPHA:93274
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Hydrocepha...	ORPHA:244
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis	ORPHA:2119
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Spinal dysraphism, Transpo...	ORPHA:1926
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Cystic liver disease, Bi...	OMIM:612284
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea...	ORPHA:42
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Neuraminidase Deficiency	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:218350
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
3C Syndrome	Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn...	ORPHA:7
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abnormal heart mo...	ORPHA:1666
Genitopalatocardiac Syndrome	Hydrocephalus, Abnormal mesentery morphology, Abnormal cardiac septum morphology, Abnormality of ...	ORPHA:2075
Beck-Fahrner Syndrome	Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventriculomegaly, Cardio...	OMIM:618798
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Refsum Disease, Classic	Cardiomyopathy, Increased CSF protein concentration, Cardiomegaly	OMIM:266500
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Griscelli Syndrome	Encephalocele, Hepatomegaly, Splenomegaly, Jaundice, Hydrocephalus, Hepatitis	ORPHA:381
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Hydrocephalus, Atrial septal defect, Cholelithiasis, Double outlet...	OMIM:614886
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:603387
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Thanatophoric Dysplasia	Atrial septal defect, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Abnormal myocar...	ORPHA:228308
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy...	ORPHA:465508
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,...	OMIM:615219
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper...	OMIM:617713
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:219730
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect, ...	OMIM:314390
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Portal hypertension, Spleno...	ORPHA:1454
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly	ORPHA:370959
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Adams-Oliver Syndrome	Encephalocele, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibro...	ORPHA:974
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Tetrasomy 15Q26	Atrial septal defect, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Increased CSF lactate, Cardiomegaly	ORPHA:391428
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Elevated circulating aspartate ami...	OMIM:608836
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis	OMIM:603903
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Ventriculomegaly, Cardiomegaly	OMIM:616897
Emanuel Syndrome	Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic stenosis...	OMIM:609029
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Neurodegeneration And Seizures Due To Copper Transport Defect	Decreased CSF copper concentration, Increased CSF lactate, Ventriculomegaly, Cardiomegaly	OMIM:620306
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, L...	OMIM:612863
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H...	OMIM:264480
1Q44 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:238769
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal heart morphology, Hydrocephalus, Hepatosplenomegaly	ORPHA:93400
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Hydrocephalus, Atrial septal defect, Tetralogy of Fallot, Patent foram...	OMIM:612582
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g...	OMIM:253800
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Ventricular septal defect, Holoprosencephaly	ORPHA:77298
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Portal fibrosis, Hepatic fibrosis, ...	OMIM:619377
Glutaric Acidemia I	Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta	ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, L...	OMIM:613154
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Temple Syndrome	Hydrocephalus	ORPHA:254516
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Abnormal heart morphology	OMIM:601499
Methylcobalamin Deficiency Type Cble	Abnormality of the liver, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Emanuel Syndrome	Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic stenosis...	ORPHA:96170
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Spondylocostal Dysostosis 4, Autosomal Recessive	Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningocele, Spina bifida occulta	OMIM:613686
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Thoracoabdominal Syndrome	Hydrocephalus, Ectopia cordis, Anencephaly, Transposition of the great arteries	OMIM:313850
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Lowry-Maclean Syndrome	Abnormality of the abdominal organs, Atrioventricular canal defect, Hydrocephalus	ORPHA:2409
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Hepatosplenomegaly	OMIM:309900
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Dand...	OMIM:613001
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ...	ORPHA:2306
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure, Ventriculomegaly	OMIM:608013
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Thanatophoric Dysplasia Type 1	Atrial septal defect, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Whipple Disease	Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Hydrocephalus	ORPHA:3452
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Hydrocephalus	ORPHA:585
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Hepatic failure	ORPHA:157
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Increased CSF protein concentration, Cardiomegaly	OMIM:105210
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Hepatomegaly, Hydrocephalus	OMIM:259700
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Temple Syndrome	Hydrocephalus	OMIM:616222
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus	ORPHA:261290
Trisomy 1Q	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	ORPHA:261344
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Arachnoiditis	Hydrocephalus	ORPHA:137817
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Hepatosplenomegaly	OMIM:259710
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven...	ORPHA:308552
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Abnormality of the liver, Hydrocephalus	ORPHA:1834
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Distal Triplication 15Q	Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology	ORPHA:314588
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Hurler Syndrome	Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Cardiomyopathy, Endocardial fibroe...	OMIM:607014
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:300514
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Abnormal heart morphology	ORPHA:1865
Joubert Syndrome	Situs inversus totalis, Encephalocele, Hydrocephalus	ORPHA:475
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy, Endoc...	ORPHA:93473
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Dextrocardia	ORPHA:220493
Meckel Syndrome	Accessory spleen, Encephalocele, Pancreatic fibrosis, Situs inversus totalis, Congenital hepatic ...	ORPHA:564
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple...	OMIM:618278
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Proteus-Like Syndrome	Communicating hydrocephalus, Splenomegaly, Hydrocephalus	ORPHA:2969
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Anencephaly, Periportal fib...	OMIM:269860
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy	OMIM:253220
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, He...	OMIM:602782
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Communicating hydrocephalus, Asplenia	OMIM:244400
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hydrocephalus	OMIM:602361
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Atrial septal defect, ...	OMIM:245600
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Abnormal heart morphology	OMIM:239300
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Abnormal aortic valve morphology, H...	ORPHA:579
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Fg Syndrome Type 1	Atrial septal defect, Hydrocephalus, Ventriculomegaly, Mitral valve prolapse	ORPHA:93932
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Hydrocephalus	OMIM:619951
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Hydrocephalus, Pulmonary valve def...	ORPHA:1600
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Desmosterolosis	Splenomegaly, Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return	ORPHA:35107
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Hepatic failure, Ventriculomegaly	OMIM:259720
Lateral Meningocele Syndrome	Ventricular septal defect, Meningocele, Bicuspid aortic valve, Hydrocephalus	OMIM:130720
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas, Hydrocephalus	OMIM:618162
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse	OMIM:616914
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly, Atrial septal defect, Hypertrophic ...	ORPHA:505248
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m...	ORPHA:355
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Abnormal aortic valve morphology, Abnorm...	ORPHA:581
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Ventriculomegaly	OMIM:616546
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula...	OMIM:619534
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Thakker-Donnai Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the...	ORPHA:1780
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Dandy-Walker malformation	OMIM:257300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy, Communicating hydrocephalus	OMIM:616084
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus	OMIM:207410
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Coccidioidomycosis	Pericarditis, Abnormality of the spleen, Peritonitis, Hydrocephalus, CSF pleocytosis, CSF lymphoc...	ORPHA:228123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Mitral valve prolapse	OMIM:104350
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Trisomy 8P	Abnormal atrioventricular connection, Hydrocephalus, Abnormal left ventricle morphology, Aplasia/...	ORPHA:264450
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:115150
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, H...	OMIM:309801
Bohring-Opitz Syndrome	Ventriculomegaly, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancr...	ORPHA:97297
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Abnormal cardiac...	ORPHA:90652
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertro...	ORPHA:1340
Histiocytoid Cardiomyopathy	Hepatomegaly, Hydrocephalus, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Neurooculorenal Syndrome	Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitral valve prolapse, Tetralogy of Fallot with...	OMIM:620305
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Jacobsen Syndrome	Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Annular pancreas	OMIM:147791
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Splenomegaly, Hydrocephalus, Cardiomyopathy, Cervical myelopathy, Mitral stenosis	OMIM:253200
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan...	OMIM:619991
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Malformati...	OMIM:249000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Orofaciodigital Syndrome I	Pancreatic cysts, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Hepatic fibrosis, H...	OMIM:311200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the...	ORPHA:2162
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Hydrocephalus	ORPHA:1555
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Functioning Gonadotropic Adenoma	Enlarged polycystic ovaries, Hydrocephalus	ORPHA:91348
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic s...	ORPHA:14
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, Dandy-Walker ...	OMIM:130650
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencephaly	ORPHA:2166
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Desmosterolosis	Hydrocephalus, Total anomalous pulmonary venous return, Ventriculomegaly	OMIM:602398
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation	OMIM:619575
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Splenomegaly, Aortic valve calcification, Abnormality of the spleen, ...	ORPHA:2072
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Cardiomegaly, Chronic CSF lymphocytosis, Hepatosplenomegaly, Incre...	ORPHA:51
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Enlarged kidney	OMIM:612651
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Dextrocardia	ORPHA:1571
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:250989
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Achondroplasia	Hydrocephalus	ORPHA:15
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Jaundice, Hypoglycorrhachia, Hepatosplenomegaly	ORPHA:168577
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormal heart morphology	ORPHA:137667
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Myelopathy, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Dilated cardiomyopathy, Hydrocephalus, Abnormal heart morphology	ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Mirage Syndrome	Hypoplastic spleen, Hydrocephalus	OMIM:617053
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	OMIM:608091
Ogden Syndrome	Ventriculomegaly, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Card...	OMIM:300855
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Absent gallbladder, Hydrocephalus, Ventricular septal defect	ORPHA:163979
H Syndrome	Hydrocephalus, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Apert Syndrome	Hydrocephalus, Overriding aorta, Ventricular septal defect, Ventriculomegaly	OMIM:101200
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Ventriculo...	ORPHA:96121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ventricular septal defect	ORPHA:268249
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly, Enlarged kidney, Splenic cyst	OMIM:618188
Opitz-Kaveggia Syndrome	Hydrocephalus, Abnormal heart morphology	OMIM:305450
Fanconi Anemia	Spina bifida, Hydrocephalus, Abnormality of the liver, Abnormal cardiac septum morphology, Abnorm...	ORPHA:84
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Fanconi Anemia, Complementation Group D2	Annular pancreas, Hydrocephalus, Abnormal heart morphology	OMIM:227646
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic...	ORPHA:2461
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Splenomegaly, Hydro...	ORPHA:567
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Mitral valve prolapse	OMIM:182212
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma	OMIM:109400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Medulloblastoma	Elevated hepatic transaminase, Hydrocephalus	ORPHA:616
Monosomy 9Q22.3	Hydrocephalus, Cardiac fibroma, Ventriculomegaly	ORPHA:77301
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology	ORPHA:401973
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Abnormal aortic valve morphology, Ventriculomegaly, Mitral valve pro...	ORPHA:2462
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestatic liver disease, ...	OMIM:270400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis, Hydrocephalus, Ventriculomegaly	ORPHA:1272
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Marshall-Smith Syndrome	Ventricular septal defect, Hydrocephalus, Atrial septal defect, Ventriculomegaly, Dysplastic aort...	OMIM:602535
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va...	ORPHA:580
Hajdu-Cheney Syndrome	Hepatomegaly, Mitral stenosis, Ventricular septal defect, Splenomegaly, Hydrocephalus, Aortic val...	ORPHA:955
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hepatomegaly, Hydrocephalus, Abnormal pulmonary valve morphology	ORPHA:667
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor...	ORPHA:363958
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Hydrocephalus, Aqueductal stenosis	OMIM:619512
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu...	OMIM:236670
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven...	ORPHA:365
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Hydrocephalus, Spina bifida occulta, Ventricular septal defect	OMIM:300373
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Tetrasomy 9P	Absent gallbladder, Pericarditis, Dextrocardia, Jaundice, Hydrocephalus, Biliary atresia, Abnorma...	ORPHA:3310
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Cryptococcosis	Peritonitis, Hydrocephalus, Cirrhosis	ORPHA:1546
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Stromme Syndrome	Accessory spleen, Hydrocephalus	OMIM:243605
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Mitral valve prolapse	ORPHA:536467
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Kabuki Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:2322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Achondroplasia	Hydrocephalus	OMIM:100800
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Mohr Syndrome	Hydrocephalus	OMIM:252100
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, Jaundice, Hydroc...	OMIM:619475
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo...	ORPHA:363700
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep...	OMIM:609192
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,...	ORPHA:2556
Costello Syndrome	Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Pulmonic stenosis, Atrial septal...	OMIM:218040
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Lateral ventricle d...	OMIM:210710
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Pseudoaminopterin Syndrome	Asplenia, Hydrocephalus, Patent foramen ovale	ORPHA:221120
Hajdu-Cheney Syndrome	Hydrocephalus, Ventricular septal defect	OMIM:102500
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Raine Syndrome	Hydrocephalus	OMIM:259775
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Hypertrop...	ORPHA:116
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Campomelic Dysplasia	Hydrocephalus, Spinal dysraphism, Spina bifida, Abnormal heart morphology	OMIM:114290
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Atrial septal defect, Tet...	ORPHA:3472
Lymphangioleiomyomatosis	Hydrocephalus, Chylopericardium	ORPHA:538
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, Hydrocephalus, Cardiomyopa...	OMIM:312870
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal heart morphology, Left ventr...	OMIM:612289
Osteogenesis Imperfecta	Abnormal endocardium morphology, Hydrocephalus, Noncommunicating hydrocephalus, Mitral valve prol...	ORPHA:666
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hydrocephalus, Biliary tract abnormality, Atrial sep...	OMIM:194190
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Enlarged polycystic ovaries, Hydrocephalus	ORPHA:95699
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Di...	OMIM:607872
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Hydrocephalus, Abnormal heart morphology	OMIM:219000
Cockayne Syndrome A	Splenomegaly, Hepatomegaly, Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:93924
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Hepatosplenomegaly	ORPHA:309282
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Hepatic cysts, Cardiac rhabdomyoma, Subependymal nodules	ORPHA:805
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly	OMIM:256040
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Anomalous splenoportal venous system, Abnormal heart morphology	OMIM:218600
Peters Plus Syndrome	Hydrocephalus, Bicuspid pulmonary valve, Abnormal cardiac septum morphology, Hypoplastic left hea...	ORPHA:709
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,...	OMIM:236680
Cockayne Syndrome B	Splenomegaly, Hepatomegaly, Normal pressure hydrocephalus	OMIM:133540
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Hepatic steatosis	OMIM:619321
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Peters-Plus Syndrome	Ventricular septal defect, Bilobate gallbladder, Hydrocephalus, Biliary tract abnormality, Pulmon...	OMIM:261540
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep...	OMIM:610168
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly	OMIM:610829
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus	OMIM:273395
Kabuki Syndrome 1	Atrial septal defect, Hydrocephalus, Ventricular septal defect, Lateral ventricle dilatation	OMIM:147920
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Abnormal heart morphology	ORPHA:322
Meningioma	Hydrocephalus	ORPHA:2495
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Congenital malformation of the left heart, Pulmonic stenosis, Hepatic steatosis, D...	ORPHA:3455
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Hydrocephalus, Dandy-Walker malformation	OMIM:264090
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca...	ORPHA:51608
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly, Patent foramen ovale	OMIM:619841
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydroc...	OMIM:619325
Townes-Brocks Syndrome 1	Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Tetralogy of F...	OMIM:107480
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hydrocephalus, Frontal encephalocele, Biliary tract ...	OMIM:268300
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:305600
Otopalatodigital Syndrome, Type Ii	Atrial septal defect, Hydrocephalus, Spina bifida	OMIM:304120
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect	OMIM:164210
Spastic Paraplegia 87, Autosomal Recessive		OMIM:619966

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 Tmem63c

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 Tmem63c.

No publications found that use IMPC mice or data for Tmem63c.

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MGI Allele	Allele Type	Produced
Tmem63c^{tm44334(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tmem63c^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tmem63c^{em1(IMPC)Rbrc}	Exon Deletion	Mice

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Gene: Tmem63c MGI:2444386

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

Human diseases caused by Tmem63c mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data