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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
enlarged heart	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
hydrocephaly	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal brain morphology	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal heart morphology	Tmem63c^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal liver 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

Download data as: TSV XLS

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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.

Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

21 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 (569 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	Hydrocephalus, Choroid plexus papilloma	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
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Elevated circulating aspartate aminotransferase concent...	OMIM:607091
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Edinburgh Malformation Syndrome	Hydrocephalus, Jaundice	OMIM:129850
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	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hydrocephalus, C...	ORPHA:858
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Endocardial fibroelastosis, Communicating hydrocephalus	OMIM:600559
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif...	OMIM:607361
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly	ORPHA:2185
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, CSF lymphoc...	OMIM:610333
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
1Q21.1 Microduplication Syndrome	Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Hepatomegaly	OMIM:300884
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:83473
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly	ORPHA:615
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Coach Syndrome 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Congenit...	OMIM:619111
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis, Hepatomegaly, Splenomegaly	ORPHA:163596
Infantile Sialic Acid Storage Disease	Hydrocephalus, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:269920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis	OMIM:615599
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Bile duct prol...	OMIM:611134
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Hydrocephalus, Cholestasis, Splenomegaly, Ventriculomegaly, Hepatic fibrosis, Ventr...	OMIM:615630
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Nephronophthisis 18	Hydrocephalus, Cholestasis, Portal fibrosis	OMIM:615862
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath...	OMIM:212140
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased CSF lactate, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Ventri...	OMIM:619051
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology	OMIM:276950
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Gaucher Disease, Type Iiic	Hepatomegaly, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic va...	OMIM:231005
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Mitral valve prolapse	ORPHA:2183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Fried Syndrome	Hydrocephalus	ORPHA:85335
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Mulibrey Nanism	Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Ventriculomegaly	OMIM:253250
Long-Olsen-Distelmaier Syndrome	Subependymal cysts, Elevated circulating alanine aminotransferase concentration, Secundum atrial ...	OMIM:620609
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Pulmonic stenosis, Tetralogy of ...	OMIM:220210
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:602501
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Neonatal Lupus Erythematosus	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Abnormal he...	ORPHA:398124
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Cardiomyopathy	OMIM:613155
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial...	OMIM:306955
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly, Dilated cardiomyopathy	ORPHA:272
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect	OMIM:147800
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Aortic valve stenosis	OMIM:220220
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Meningocele, Hydrocephalus, Holoprosencephaly, Abno...	ORPHA:3376
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Anencephaly	OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Left ventricular hypertrophy	OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly...	ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, ...	OMIM:614576
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome...	OMIM:201475
Pentalogy Of Cantrell	Anencephaly, Encephalocele, Hydrocephalus, Abnormal pericardium morphology, Tetralogy of Fallot, ...	ORPHA:1335
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran...	ORPHA:244
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Atrial septal defect	ORPHA:93274
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma	OMIM:249400
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus	ORPHA:2184
2,4-Dienoyl-Coa Reductase Deficiency	Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul...	OMIM:616034
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Hec Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Communicating hydrocephalus	ORPHA:2119
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Diabetic Embryopathy	Transposition of the great arteries, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Ventr...	ORPHA:1926
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:2701
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Bile duct proliferation, Cystic liver diseas...	OMIM:612284
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Neuraminidase Deficiency	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:256550
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Abnormal heart morphology	OMIM:175700
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Dandy-Walke...	ORPHA:79332
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:218350
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hydrocephalus, Dandy-Walker m...	ORPHA:7
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Increased CSF protein concentration	OMIM:266500
Beck-Fahrner Syndrome	Cardiomegaly, Ventriculomegaly, Ventricular septal defect, Extra-axial cerebrospinal fluid accumu...	OMIM:618798
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Dextrocardia	Situs inversus totalis, Dextrocardia, Hydrocephalus, Pancreatic hypoplasia, Abnormality of abdomi...	ORPHA:1666
Genitopalatocardiac Syndrome	Hydrocephalus, Abnormality of the gallbladder, Abnormal mesentery morphology, Abnormal cardiac se...	ORPHA:2075
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Griscelli Syndrome	Jaundice, Hepatomegaly, Encephalocele, Hydrocephalus, Splenomegaly, Hepatitis	ORPHA:381
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hydrocephalus, Double ou...	OMIM:614886
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis	OMIM:307000
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri...	ORPHA:57777
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Ventricular septal defect	OMIM:603387
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Ventriculomeg...	OMIM:615219
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Ventri...	ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly, Atrial septal defect	ORPHA:2655
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Left ventr...	OMIM:617713
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta...	ORPHA:465508
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:219730
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:1454
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia...	OMIM:314390
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Dilated fourth ventricle, Ventriculomegaly	ORPHA:370959
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Multiple Sulfatase Deficiency	Hepatomegaly, Hydrocephalus, Increased CSF protein concentration, Splenomegaly, Ventriculomegaly	OMIM:272200
Hsd10 Disease, Infantile Type	Cardiomegaly, Increased CSF lactate, Hypertrophic cardiomyopathy	ORPHA:391428
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Atrial septal defect	OMIM:614846
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Adams-Oliver Syndrome	Cirrhosis, Encephalocele, Hydrocephalus, Portal hypertension, Congenital hepatic fibrosis, Tetral...	ORPHA:974
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly	OMIM:603903
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma...	OMIM:619895
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic tra...	OMIM:608836
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventriculomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Emanuel Syndrome	Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, Aortic valve stenosis, Pulmonic ste...	OMIM:609029
Neurodegeneration And Seizures Due To Copper Transport Defect	Increased CSF lactate, Ventriculomegaly, Decreased CSF copper concentration, Cardiomegaly	OMIM:620306
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Hydrocephalus, Dysplastic pulmonary valve, Dysplastic tricuspid valve, Mitr...	OMIM:612863
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Abnormal cardiac septum morphology	ORPHA:238769
Congenital Sialidosis Type 2	Hydrocephalus, Hepatomegaly, Hepatosplenomegaly, Abnormal heart morphology	ORPHA:93400
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Patent foramen ovale, Tetralogy of Fallot, Atrial septa...	OMIM:612582
Osteootohepatoenteric Syndrome	Portal fibrosis, Hydrocephalus, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal...	OMIM:619377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic...	OMIM:253800
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:612938
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal d...	OMIM:264480
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:613686
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Ventricular septal defect, Holoprosencephaly	ORPHA:77298
Glutaric Acidemia I	Hydrocephalus, Hepatomegaly, Lateral ventricle dilatation	OMIM:231670
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida	ORPHA:2437
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Hydrocephalus, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly	OMIM:309900
Temple Syndrome	Hydrocephalus	ORPHA:254516
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Abnormality of the liver	ORPHA:2169
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele	OMIM:241800
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Abnormal heart morphology	OMIM:601499
Isotretinoin-Like Syndrome	Hydrocephalus, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Bicuspid aortic valv...	ORPHA:2306
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Left ventricular hypertrophy	ORPHA:90065
Emanuel Syndrome	Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, Aortic valve stenosis, Pulmonic ste...	ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ...	OMIM:613154
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Houge-Janssens Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Hydrocephalus, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion...	OMIM:261740
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Aortic valve stenosis	ORPHA:459061
Thoracoabdominal Syndrome	Hydrocephalus, Ectopia cordis, Transposition of the great arteries, Anencephaly	OMIM:313850
Joubert Syndrome 14	Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect	OMIM:614424
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Elevated circulating hepatic transaminase concentration	OMIM:310400
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly	OMIM:225790
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Lowry-Maclean Syndrome	Hydrocephalus, Atrioventricular canal defect, Abnormality of the abdominal organs	ORPHA:2409
Multiple Sulfatase Deficiency	Hydrocephalus, Hepatomegaly, Splenomegaly	ORPHA:585
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Ventricular septal defect, Subval...	OMIM:613001
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Ventriculomegaly, Hepatic failure	OMIM:608013
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Whipple Disease	Myocarditis, Hepatomegaly, Hydrocephalus, Pericarditis, Splenomegaly	ORPHA:3452
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Increased CSF protein concentration	OMIM:105210
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Atrial septal defect	ORPHA:1860
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:619833
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hydrocephalus, Cardiomyopathy, Hepatic calcification, Hepatic failure	ORPHA:157
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Pericardial effusion	OMIM:617822
Trisomy 17P	Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart	ORPHA:261290
Temple Syndrome	Hydrocephalus	OMIM:616222
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Trisomy 1Q	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	ORPHA:261344
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Hepatomegaly, Splenomegaly	OMIM:259700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Arachnoiditis	Hydrocephalus	ORPHA:137817
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:308552
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Abnormality of the liver, Abnormality of the spleen	ORPHA:1834
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Abnormal heart morphology	ORPHA:314588
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Hepatosplenomegaly	OMIM:259710
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Hurler Syndrome	Hepatomegaly, Hydrocephalus, Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Endocardial fibroe...	OMIM:607014
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:300514
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Abnormal heart morphology, Encephalocele	ORPHA:1865
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Hurler Syndrome	Hepatomegaly, Hydrocephalus, Abnormal heart valve morphology, Cardiomyopathy, Splenomegaly, Endoc...	ORPHA:93473
Mucopolysaccharidosis Type 1	Abnormal aortic valve morphology, Hydrocephalus, Abnormal heart valve morphology, Hypertrophic ca...	ORPHA:579
Joubert Syndrome	Hydrocephalus, Situs inversus totalis, Encephalocele	ORPHA:475
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect	ORPHA:79330
Meckel Syndrome	Situs inversus totalis, Anencephaly, Encephalocele, Accessory spleen, Hydrocephalus, Dandy-Walker...	ORPHA:564
Joubert Syndrome With Ocular Defect	Hydrocephalus, Dextrocardia, Encephalocele	ORPHA:220493
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Cardiomegaly, Hydrocephalus, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypert...	OMIM:245600
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Hydrocephalus, Abnormal heart valve morphology, Cardiomyopathy, Splenomegaly	OMIM:253220
Proteus-Like Syndrome	Hydrocephalus, Splenomegaly, Communicating hydrocephalus	ORPHA:2969
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Pancreatic hypoplasia, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral ...	OMIM:602782
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,...	OMIM:618278
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Asplenia, Communicating hydrocephalus	OMIM:244400
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Anencephaly, Periportal fibrosis, Hydrocephalus, Patent foramen ovale, Holoprosence...	OMIM:269860
Gracile Bone Dysplasia	Hydrocephalus, Hypoplastic spleen, Asplenia	OMIM:602361
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Secundum atrial septal defect	OMIM:619951
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Abnormal heart morphology	OMIM:239300
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Limb Body Wall Complex	Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele...	ORPHA:2369
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis	OMIM:304340
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Hydranencephaly, Hydrocephalus, Splenic cyst, Patent foramen ovale, Dilated third v...	OMIM:620371
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Fg Syndrome Type 1	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Mitral valve prolapse	ORPHA:93932
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Monosomy 18Q	Pulmonary valve defects, Hydrocephalus, Dysplastic pulmonary valve, Absence of the pulmonary valv...	ORPHA:1600
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Hydrocephalus, Abnormal mitral valve morphology, ...	ORPHA:581
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return, Splenomegaly	ORPHA:35107
Congenital Syphilis	Myocarditis, Pancreatitis, Hydrocephalus, CSF pleocytosis, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Atrial septal defect, Annular pancreas	OMIM:618162
Lateral Meningocele Syndrome	Hydrocephalus, Bicuspid aortic valve, Ventricular septal defect, Meningocele	OMIM:130720
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Hydrocephalus, Hepatosplenomegaly, Splenomegaly, Ventriculomegaly, Hepatic failure	OMIM:259720
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Hepatomegaly, Splenomegaly, Lateral ventricle dilatation	OMIM:612301
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry, Mitral valve prolapse	OMIM:616914
Gaucher Disease	Cirrhosis, Hepatomegaly, Cholelithiasis, Hydrocephalus, Abnormal heart valve morphology, Splenic ...	ORPHA:355
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Hydrocephalus, Patent foramen ovale, Hypertrophic cardiomyopathy, Abnormal heart...	ORPHA:505248
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Coccidioidomycosis	Pancreatitis, Hydrocephalus, CSF lymphocytic pleiocytosis, CSF pleocytosis, Increased CSF protein...	ORPHA:228123
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Atrial septal defect	OMIM:207410
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Occipital meningocele, Ventriculomegaly, Atrial septal defect	OMIM:616546
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Ventriculomegaly, Atrial septal defect	OMIM:257300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Thakker-Donnai Syndrome	Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Communicatin...	ORPHA:1780
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Splenomegaly, Communicating hydrocephalus	OMIM:616084
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:618476
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Mitral valve prolapse	OMIM:104350
Histiocytoid Cardiomyopathy	Hydrocephalus, Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Hydrocephalus, Dandy-Walker malformation, D...	ORPHA:264450
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Dandy-Walker malformation, Cardiomegaly, Ventriculomegaly, Abno...	ORPHA:97297
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Splenomegaly, Atrial septal defect	OMIM:115150
Neurooculorenal Syndrome	Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Hydrocephalus, Pa...	OMIM:620305
Cardiofaciocutaneous Syndrome	Hydrocephalus, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, A...	ORPHA:1340
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Histiocytoid cardiomyopathy, Colpocephaly, Overriding aorta, Atrial septal defect,...	OMIM:309801
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hepatomegaly, Hydrocephalus, Cardiomyopathy, Mitral stenosis, Splenomegaly	OMIM:253200
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Abnormal heart valve morphology, Myelomeningocele, Abnormal cardiac...	ORPHA:90652
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620376
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Ventriculomegaly, Dilated third ventricle	ORPHA:500055
Pelvis-Shoulder Dysplasia	Hydrocephalus, Spina bifida, Hydranencephaly	ORPHA:2839
Orofaciodigital Syndrome I	Hydrocephalus, Myelomeningocele, Abnormal heart morphology, Hepatic cysts, Hepatic fibrosis, Panc...	OMIM:311200
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Jacobsen Syndrome	Annular pancreas, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventricular septal defect	OMIM:147791
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Biliary hyperpl...	OMIM:619991
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Dandy-Walker malformation, Cardiomyopathy, Pancreati...	OMIM:130650
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele	ORPHA:2318
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly, H...	ORPHA:14
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Abnormality of the pancreas	ORPHA:1555
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele	ORPHA:220497
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Ventricular septal defect, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Holoprosencephaly	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Abnormality of the sp...	ORPHA:2162
Meckel Syndrome, Type 1	Occipital encephalocele, Anencephaly, Accessory spleen, Hydrocephalus, Dandy-Walker malformation,...	OMIM:249000
Functioning Gonadotropic Adenoma	Hydrocephalus, Enlarged polycystic ovaries	ORPHA:91348
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele, Abnormal cardiac septum morphology	ORPHA:2166
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Total anomalous pulmonary venous return	OMIM:602398
Knobloch Syndrome	Hydrocephalus, Occipital encephalocele, Dextrocardia	ORPHA:1571
Iniencephaly	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif...	ORPHA:63259
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Myelopathy	OMIM:252500
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:250989
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic CSF lymphocytosis, Hypertrophic ...	ORPHA:51
Fucosidosis	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:230000
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Ventriculomegaly, Enlarged kidney, Holoprosencephaly	OMIM:612651
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Hydrocephalus, Bacterial endocarditis, Mitral valve calcification, Hepatosplenome...	ORPHA:2072
Achondroplasia	Hydrocephalus	ORPHA:15
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormal heart morphology	ORPHA:137667
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Jaundice, Hepatosplenomegaly, Communicating hydrocephalus	ORPHA:168577
Mirage Syndrome	Hydrocephalus, Hypoplastic spleen	OMIM:617053
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Joubert Syndrome 2	Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele	OMIM:608091
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni...	ORPHA:3384
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Jaundice, Macrovesicular hepat...	OMIM:300855
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele	OMIM:614643
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele	ORPHA:2356
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
H Syndrome	Hydrocephalus, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Dilated cardiomyopathy, Jaundice, Abnormal heart morphology	ORPHA:79282
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Atrial septal defect, Ventricular septal defect, Absent gallbladder	ORPHA:163979
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Overriding aorta	OMIM:101200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Hyperparathyroidism, Transient Neonatal	Ventriculomegaly, Enlarged kidney, Splenic cyst, Communicating hydrocephalus	OMIM:618188
Fanconi Anemia	Abnormal aortic valve morphology, Hydrocephalus, Hypertrophic cardiomyopathy, Spina bifida, Tetra...	ORPHA:84
7Q11.23 Microduplication Syndrome	Hydrocephalus, Aortic valve stenosis, Ventriculomegaly, Atrial septal defect, Ventricular septal ...	ORPHA:96121
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Encephalocele	OMIM:613150
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Mitral valve prolapse	OMIM:182212
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ventricular septal defect	ORPHA:268249
Opitz-Kaveggia Syndrome	Hydrocephalus, Abnormal heart morphology	OMIM:305450
Basal Cell Nevus Syndrome 1	Hydrocephalus, Cardiac rhabdomyoma, Cardiac fibroma, Spina bifida	OMIM:109400
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Annular pancreas, Abnormal heart morphology	OMIM:227646
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Hydrocephalus, Ven...	ORPHA:2461
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopath...	ORPHA:580
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly, Cardiac fibroma	ORPHA:77301
Medulloblastoma	Hydrocephalus, Elevated circulating hepatic transaminase concentration	ORPHA:616
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology, Aortic valve stenosis	ORPHA:401973
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Abnormal aortic valve morphology, Mitral valve prolapse, Communicating hydrocep...	ORPHA:2462
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Hajdu-Cheney Syndrome	Hepatomegaly, Hydrocephalus, Aortic valve stenosis, Mitral stenosis, Splenomegaly, Ventricular se...	ORPHA:955
Marshall-Smith Syndrome	Hydrocephalus, Dysplastic aortic valve, Ventriculomegaly, Atrial septal defect, Ventricular septa...	OMIM:602535
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Hyp...	OMIM:270400
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly, Pericardial effusion, Pericarditis	ORPHA:1272
22Q11.2 Deletion Syndrome	Tricuspid atresia, Abnormal aortic valve morphology, Cholelithiasis, Meningocele, Hydrocephalus, ...	ORPHA:567
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hydrocephalus, Aqueductal stenosis, Atrial septal defect	OMIM:619512
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus	ORPHA:25
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Bicusp...	ORPHA:363958
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal pulmonary valve morphology	ORPHA:667
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Ventricu...	OMIM:236670
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Hepatomegaly	OMIM:277400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:365
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Atrial septal defect, Ventricular septal defect, Spina bifida occulta	OMIM:300373
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Spina bifida	ORPHA:3412
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Hydrocephalus, Dandy-Walker malformation, Patent foramen...	ORPHA:3310
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Cryptococcosis	Hydrocephalus, Cirrhosis, Peritonitis	ORPHA:1546
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Gorlin Syndrome	Hydrocephalus, Cardiac fibroma	ORPHA:377
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Mitral valve prolapse	ORPHA:536467
Stromme Syndrome	Hydrocephalus, Accessory spleen	OMIM:243605
Cerebrooculonasal Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele	OMIM:605627
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc...	OMIM:610828
Alexander Disease	Hydrocephalus, Aqueductal stenosis	ORPHA:58
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Aqueductal stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:154400
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly, Abnormal cardiac septum morphology	ORPHA:2322
Achondroplasia	Hydrocephalus	OMIM:100800
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Jaundice, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Bicuspid aortic...	OMIM:619475
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Hydrocephalus, Hypertrophic cardiomyopathy, Mitral valve prolapse, Dila...	ORPHA:2556
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Cousin Syndrome	Hydrocephalus, Hydranencephaly	OMIM:260660
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd...	OMIM:615287
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis	OMIM:300960
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Tricuspid valve prolapse, Ventricular septal defect	ORPHA:261337
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal hea...	ORPHA:363700
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Costello Syndrome	Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Ventriculom...	OMIM:218040
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Muscular ventricular septal defect, Hydrocephalus, Patent foramen ovale, Prolonged neonatal jaund...	OMIM:210710
Raine Syndrome	Hydrocephalus	OMIM:259775
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr...	ORPHA:116
Pseudoaminopterin Syndrome	Hydrocephalus, Patent foramen ovale, Asplenia	ORPHA:221120
Hajdu-Cheney Syndrome	Hydrocephalus, Ventricular septal defect	OMIM:102500
Lymphangioleiomyomatosis	Hydrocephalus, Chylopericardium	ORPHA:538
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Yunis-Varon Syndrome	Hydrocephalus, Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricul...	ORPHA:3472
Campomelic Dysplasia	Hydrocephalus, Spinal dysraphism, Abnormal heart morphology, Spina bifida	OMIM:114290
Osteogenesis Imperfecta	Abnormal endocardium morphology, Hydrocephalus, Mitral valve prolapse, Noncommunicating hydroceph...	ORPHA:666
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hydrocephalus, Ventricular se...	OMIM:312870
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Enlarged polycystic ovaries	ORPHA:95699
Fontaine Progeroid Syndrome	Hydrocephalus, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve, At...	OMIM:612289
Wolf-Hirschhorn Syndrome	Accessory spleen, Hydrocephalus, Biliary tract abnormality, Ventriculomegaly, Atrial septal defec...	OMIM:194190
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Hydrocephalu...	OMIM:616462
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Cockayne Syndrome A	Ventriculomegaly, Hepatomegaly, Normal pressure hydrocephalus, Splenomegaly	OMIM:216400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Hydrocephalus, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein ...	OMIM:607872
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Williams Syndrome	Abnormal endocardium morphology, Cardiomegaly, Cholelithiasis, Spina bifida occulta, Hypertrophic...	ORPHA:904
Semilobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93924
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Communicating hydrocephalus	ORPHA:309282
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:256040
Fraser Syndrome 1	Hydrocephalus, Abnormal heart morphology, Encephalocele, Myelomeningocele	OMIM:219000
Peters Plus Syndrome	Spina bifida occulta, Hydrocephalus, Bicuspid pulmonary valve, Pulmonic stenosis, Hypoplastic lef...	ORPHA:709
Tuberous Sclerosis Complex	Subependymal nodules, Hepatic cysts, Cardiac rhabdomyoma, Noncommunicating hydrocephalus	ORPHA:805
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho...	OMIM:610829
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Spina bifida	OMIM:162200
Cockayne Syndrome B	Normal pressure hydrocephalus, Hepatomegaly, Splenomegaly	OMIM:133540
Baller-Gerold Syndrome	Hydrocephalus, Anomalous splenoportal venous system, Abnormal heart morphology, Spina bifida occulta	OMIM:218600
Loeys-Dietz Syndrome 2	Hydrocephalus, Patent foramen ovale, Bicuspid pulmonary valve, Mitral valve prolapse, Bicuspid ao...	OMIM:610168
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Loeys-Dietz Syndrome 1	Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Bicuspid aortic valve, Atrial sep...	OMIM:609192
Hydrolethalus Syndrome 1	Anencephaly, Accessory spleen, Dandy-Walker malformation, Severe hydrocephalus, Ventricular septa...	OMIM:236680
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Hepatic steatosis	OMIM:619321
Peters-Plus Syndrome	Bilobate gallbladder, Hydrocephalus, Pulmonic stenosis, Biliary tract abnormality, Ventriculomega...	OMIM:261540
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy	ORPHA:637
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
Kabuki Syndrome 1	Hydrocephalus, Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatation	OMIM:147920
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dysplastic pulmonary valve, Pulmonic stenosis, Congenital malformation of the left...	ORPHA:3455
Exstrophy-Epispadias Complex	Hydrocephalus, Abnormal heart morphology, Spina bifida	ORPHA:322
Meningioma	Hydrocephalus	ORPHA:2495
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Tetraamelia Syndrome 1	Hydrocephalus, Asplenia	OMIM:273395
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Pericardial effusion, Pancreatic calcification, Cardiomegaly, Hepatic ca...	ORPHA:51608
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dandy-Walker malformation, Secundum atrial septal defect	OMIM:264090
Coffin-Siris Syndrome 12	Patent foramen ovale, Elevated circulating hepatic transaminase concentration, Noncommunicating h...	OMIM:619325
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly, Tetralogy of Fallot, Atrial septal defect, Ventricular septal d...	OMIM:107480
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent foramen ovale, Mild fetal ventriculomegaly, Communicating hydrocephalus	OMIM:619841
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:457359
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hydrocephalus, Biliary tract abnormality, Frontal encephalocele, Atrial septal ...	OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:305600
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Atrial septal defect, Spina bifida	OMIM:304120
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	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	Hydrocephalus, Occipital encephalocele, Ventricular septal defect, Tetralogy of Fallot	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

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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Gene: Tmem63c MGI:2444386

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

X-ray

Gross Pathology and Tissue Collection

Human diseases caused by Tmem63c mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data