Gene Summary

Name:
transmembrane protein 63c
Synonyms:
9330187M14Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
abnormal brain morphology Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
abnormal liver morphology Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
abnormal heart morphology Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
enlarged heart Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
increased total body fat amount Tmem63cem1(IMPC)Rbrc HOM Early adult 3.40×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection

Images

21 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Ethanolaminosis
Cardiomegaly OMIM:227150
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Congenital Toxoplasmosis
Elevated hepatic transaminase, Ventriculomegaly, Hepatomegaly, Jaundice, Cardiomegaly, Hydrocephalus ORPHA:858
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Endocardial fibroelastosis, Communicating hydrocephalus OMIM:600559
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus, Abnormal heart morphology ORPHA:2185
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Ventriculomegaly, CSF lymphocytic pleiocytosis, Hepatomegaly, Sple... OMIM:610333
Kleeblattschaedel
Hydrocephalus OMIM:148800
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation... OMIM:607361
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Ventricular septal defect ORPHA:83473
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomy... OMIM:617713
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Coach Syndrome 2
Elevated hepatic transaminase, Hepatic fibrosis, Congenital hepatic fibrosis, Portal fibrosis, Hy... OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dila... OMIM:600649
Nephronophthisis 18
Portal fibrosis, Hydrocephalus, Cholestasis OMIM:615862
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine... OMIM:212140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Hydrocephalus, Splenomegaly OMIM:269920
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Hydrocephalus, Splenomegaly ORPHA:163596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Ventriculomegaly, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic... OMIM:615630
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Hydrocephalus ORPHA:2183
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology OMIM:276950
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Bile duct proliferatio... OMIM:611134
Fried Syndrome
Hydrocephalus ORPHA:85335
Mulibrey Nanism
Myocardial fibrosis, Ventriculomegaly, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:619064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, S... OMIM:235200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:602501
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Increased CSF lactate, Ventriculomegaly, Cardiomegaly, Hypertrophic card... OMIM:619051
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hydrocephalus, Abnormal heart morphology, Hepatomegaly, Hepatic fa... ORPHA:398124
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly, Elevated hepatic transaminase OMIM:255120
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Pallister-Hall-Like Syndrome
Hydrocephalus, Abnormal heart morphology OMIM:241800
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Mental Retardation, Buenos Aires Type
Intrahepatic biliary atresia, Atrial septal defect, Hydrocephalus OMIM:249630
Triploidy
Holoprosencephaly, Meningocele, Hepatomegaly, Abnormality of the pancreas, Abnormality of the gal... ORPHA:3376
Achondroplasia
Hydrocephalus OMIM:100800
Meckel Syndrome, Type 6
Anencephaly, Hepatic fibrosis, Cystic liver disease, Bile duct proliferation, Hydrocephalus OMIM:612284
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Ventriculomegaly, Hydrocephalus ORPHA:272
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydrocephalus, Transposition of the great arteries, Enlarged kidney OMIM:314390
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Abnormal heart morphology OMIM:175700
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Hype... OMIM:201475
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Atrial septal defect, Elevated hepatic transaminase, Ventricular septal defect, Ventri... OMIM:614576
Refsum Disease, Classic
Increased CSF protein, Cardiomegaly, Cardiomyopathy OMIM:266500
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus ORPHA:2184
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy ORPHA:2701
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Polysplenia, Abnormal pericardium morphology, An... ORPHA:1335
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Diabetic Embryopathy
Ventricular septal defect, Spinal dysraphism, Abnormality of the pancreas, Tetralogy of Fallot, H... ORPHA:1926
Hec Syndrome
Endocardial fibroelastosis, Communicating hydrocephalus, Cardiomyopathy ORPHA:2119
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Genitopalatocardiac Syndrome
Abnormality of mesentery morphology, Abnormal cardiac septum morphology, Hydrocephalus, Abnormali... ORPHA:2075
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Atrial septal defect, Hydrocephalus ORPHA:93274
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
3C Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal mi... ORPHA:7
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Cholelithiasis, Double outlet right ventricl... OMIM:614886
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:218350
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Dextrocardia
Situs inversus totalis, Abnormal heart morphology, Dextrocardia, Pancreatic hypoplasia, Abnormali... ORPHA:1666
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:219730
Thanatophoric Dysplasia
Ventriculomegaly, Atrial septal defect, Hydrocephalus ORPHA:2655
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Ventriculom... ORPHA:244
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Amyloidosis, Hereditary, Transthyretin-Related
Increased CSF protein, Cardiomegaly, Cardiomyopathy OMIM:105210
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Ventriculomegaly, Hepatomegaly, Hepatic calcification, Cardiomegaly, Hepatic f... ORPHA:228308
Lissencephaly 5
Hydrocephalus OMIM:615191
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Cardiomegaly, Cholang... ORPHA:465508
Temple Syndrome
Hydrocephalus OMIM:616222
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Beck-Fahrner Syndrome
Ventriculomegaly, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, Ventricular septal ... OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Ventriculomegaly, Macrovesicular hepatic steatosi... OMIM:608836
Griscelli Syndrome
Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Hydrocephalus ORPHA:381
Central Precocious Puberty
Hydrocephalus ORPHA:759
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:615287
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly OMIM:603903
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect OMIM:603387
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hsd10 Disease, Infantile Type
Increased CSF lactate, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Multiple Sulfatase Deficiency
Ventriculomegaly, Hepatomegaly, Increased CSF protein, Splenomegaly, Hydrocephalus OMIM:272200
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Adams-Oliver Syndrome
Cirrhosis, Abnormal pulmonary valve morphology, Congenital hepatic fibrosis, Portal hypertension,... ORPHA:974
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy OMIM:612938
1Q44 Microdeletion Syndrome
Abnormal cardiac septum morphology, Ventriculomegaly, Hydrocephalus ORPHA:238769
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Ventriculomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Hydrocephalus, Cardiomyopathy OMIM:253220
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Abnormal heart morphology ORPHA:93400
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Cardiomyopathy ORPHA:370959
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Left ventricular hypertrophy, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Complete a... OMIM:264480
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Ventricular septal defect ORPHA:77298
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Hydrocephalus, Anencephaly OMIM:313850
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Ventriculomegaly, Pulmonic s... ORPHA:96170
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Mucopolysaccharidosis, Type Vi
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Hydrocephalus, Cardiomyopathy OMIM:253200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Myopathy, Centronuclear, X-Linked
Decreased liver function, Hydrocephalus OMIM:310400
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Abnormal car... ORPHA:2306
Temple Syndrome
Hydrocephalus ORPHA:254516
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Abnormal heart morphology OMIM:601499
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Hepatomegaly, Cardiomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly OMIM:608013
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Hurler Syndrome
Endocardial fibroelastosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hydrocephalus, Cardio... OMIM:607014
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy OMIM:619259
Pycnodysostosis
Hepatomegaly, Hydrocephalus, Splenomegaly ORPHA:763
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hydrocephalus, Hepatic failure, Splenomegaly OMIM:259720
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Hydrocephalus, Splenomegaly OMIM:309900
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Ventriculomegaly, Hydrocephalus ORPHA:2169
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Lowry-Maclean Syndrome
Atrioventricular canal defect, Hydrocephalus, Abnormality of the abdominal organs ORPHA:2409
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Hepatomegaly, Displacement of the papillary muscles, Righ... ORPHA:1329
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation, Subval... OMIM:613001
Whipple Disease
Pericarditis, Hepatomegaly, Splenomegaly, Myocarditis, Hydrocephalus ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Holoprosencephaly, Pulmonic stenosis, Dilated cardiomy... OMIM:253800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Hydrocephalus, Splenomegaly OMIM:259700
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Splenomegaly ORPHA:585
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Hepatic failure, Hydrocephalus, Cardiomyopathy ORPHA:157
Hemangioblastoma
Hydrocephalus ORPHA:252054
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Crouzon Disease
Hydrocephalus ORPHA:207
Joubert Syndrome With Hepatic Defect
Cirrhosis, Elevated hepatic transaminase, Chronic hepatic failure, Neoplasm of the liver, Hepatom... ORPHA:1454
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Atrial septal defect, Hydrocephalus ORPHA:1860
Trisomy 1Q
Ventriculomegaly, Hydrocephalus, Ventricular septal defect ORPHA:261344
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Pericardial effusion OMIM:617822
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation OMIM:614424
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Hydrocephalus, Annular pancreas OMIM:618162
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Arachnoiditis
Hydrocephalus ORPHA:137817
Axial Mesodermal Dysplasia Spectrum
Abnormality of the liver, Abnormality of the spleen, Hydrocephalus ORPHA:1834
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Tetralogy of Fallot, Hydro... OMIM:612582
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Left ventricular hyper... ORPHA:308552
Gorlin Syndrome
Hydrocephalus ORPHA:377
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Pancreatic hypo... OMIM:602782
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Ciliary Dyskinesia, Primary, 1
Asplenia, Situs inversus totalis, Communicating hydrocephalus OMIM:244400
Bresek Syndrome
Hydrocephalus ORPHA:85284
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:300514
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Pancreatic cysts, Anencephaly, Pancreatic fibrosis, Cys... ORPHA:564
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Muenke Syndrome
Hydrocephalus ORPHA:53271
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus ORPHA:261290
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Splenomegaly ORPHA:2969
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Abnormal aortic valve morphology, Splenomegaly, Hydrocephalus, H... ORPHA:579
Joubert Syndrome
Situs inversus totalis, Hydrocephalus ORPHA:475
Popov-Chang syndrome
Pulmonic stenosis, Hydrocephalus OMIM:618428
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Distal Tetrasomy 15Q
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology ORPHA:314588
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Orofaciodigital Syndrome I
Abnormal heart morphology, Hepatic cysts, Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, H... OMIM:311200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Hurler Syndrome
Abnormal heart valve morphology, Endocardial fibroelastosis, Hepatomegaly, Splenomegaly, Hydrocep... ORPHA:93473
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis OMIM:618278
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Overriding aorta, Colpocephaly, H... OMIM:309801
Joubert Syndrome With Ocular Defect
Dextrocardia, Hydrocephalus ORPHA:220493
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Holoprosencephaly, Periportal fibrosis, Anencephaly, Hepatomegaly, Spl... OMIM:269860
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Abnormal heart morphology ORPHA:1865
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Anencep... ORPHA:2369
Arnold-Chiari Malformation Type Ii
Ventriculomegaly, Aqueductal stenosis, Meningocele, Myelomeningocele, Hydrocephalus ORPHA:1136
Gaucher Disease
Cirrhosis, Abnormal heart valve morphology, Mitral valve calcification, Ventriculomegaly, Abnorma... ORPHA:355
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Enlarged kidney, Abnormal heart morphology, Patent foramen ovale, Hepatospl... ORPHA:505248
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Fg Syndrome Type 1
Mitral valve prolapse, Ventriculomegaly, Atrial septal defect, Hydrocephalus ORPHA:93932
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Ventriculomegaly, Hydrocephalus, Enlarged kidney OMIM:612651
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Ventriculomegaly, Abnormal aortic valve morphology, Hepatomegal... ORPHA:581
Thakker-Donnai Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Transposition of the great arteries, Ventricula... ORPHA:1780
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Gracile Bone Dysplasia
Hypoplastic spleen, Hydrocephalus, Asplenia OMIM:602361
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse, Hydrocephalus, Asymmetric ventricles OMIM:616914
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Desmosterolosis
Ventriculomegaly, Anomalous pulmonary venous return, Hydrocephalus, Splenomegaly ORPHA:35107
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Coccidioidomycosis
Peritonitis, Pericarditis, CSF lymphocytic pleiocytosis, Abnormality of the liver, Increased CSF ... ORPHA:228123
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology OMIM:114290
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Hydrocephalus OMIM:104350
Trisomy 8P
Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Abnormal left ventricle morphology, Dysp... ORPHA:264450
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrocephalus, Anencephaly OMIM:616546
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy, Splenomegaly OMIM:616084
Bohring-Opitz Syndrome
Annular pancreas, Ventriculomegaly, Cholelithiasis, Cardiomegaly, Abnormal cardiac septum morphol... ORPHA:97297
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus OMIM:207410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Hydrocephalus, Annular pancreas OMIM:147791
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Increased CSF interferon alpha, Arrhinencephaly, Ventriculomegaly,... ORPHA:51
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Abnormal cardiac septum morphology, Myelomeningocele, Hydrocephalus ORPHA:90652
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Hydrocephalus, Dilation of lateral ventricles, Splenomegaly OMIM:612301
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Card... ORPHA:14
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Pulmonic stenosis, Splenomegaly, Hydrocephalus, Hypertrophic cardiomyopathy OMIM:115150
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Hydrocephalus, Ventricular septal defect ORPHA:137675
Monosomy 18Q
Pulmonary valve defects, Secundum atrial septal defect, Aortic valve stenosis, Absence of the pul... ORPHA:1600
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Cardiofaciocutaneous Syndrome
Atrial septal defect, Abnormal heart valve morphology, Pulmonic stenosis, Hydrocephalus, Hypertro... ORPHA:1340
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Apert Syndrome
Overriding aorta, Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:101200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Mitral valve calcification, Ventriculomegaly, Cholelithiasis, Hepatic fib... ORPHA:2072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Beckwith-Wiedemann Syndrome
Enlarged kidney, Cardiomyopathy, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Dandy-Walker... OMIM:130650
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hydrocephalus ORPHA:500055
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:252500
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Anencephaly, Abnormal cardiac septum ... OMIM:249000
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Jaundice, Hepatosplenomegaly, Communicating hydrocephalus ORPHA:168577
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Functioning Gonadotropic Adenoma
Hydrocephalus, Enlarged polycystic ovaries ORPHA:91348
Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Abnormal pulmonary valve morphol... ORPHA:2162
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Abnormality of the pancreas, Hydrocephalus ORPHA:1555
Joubert Syndrome With Oculorenal Defect
Hydrocephalus ORPHA:2318
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Aortic valve stenosis, Hydroce... ORPHA:96121
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Joubert Syndrome With Renal Defect
Hydrocephalus ORPHA:220497
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
H Syndrome
Hepatosplenomegaly, Hydrocephalus, Enlarged kidney ORPHA:168569
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Cardiomegaly, Hepatosplenomegaly, Pancreatic islet-cell hype... OMIM:215140
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Jaundice, Hydrocephalus, Abnormal heart morphology ORPHA:79282
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Atrial septal defect, Hydrocephalus, Ventricular septal defect ORPHA:163979
Desmosterolosis
Ventriculomegaly, Total anomalous pulmonary venous return, Hydrocephalus OMIM:602398
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Hydrocephalus, Aqueductal stenosis, Ventricular septal defect OMIM:154400
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormal heart morphology ORPHA:137667
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Fanconi Anemia
Spina bifida, Atrial septal defect, Hydrocephalus, Ventriculomegaly, Abnormal aortic valve morpho... ORPHA:84
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Mirage Syndrome
Hypoplastic spleen, Hydrocephalus OMIM:617053
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Annular pancreas, Abnormal heart morphology OMIM:227646
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Abnormal anatomic location of the heart, Dextr... ORPHA:2461
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Abnormal heart morphology, ... ORPHA:580
Aymé-Gripp Syndrome
Ventriculomegaly, Pericarditis, Hydrocephalus, Pericardial effusion ORPHA:1272
Medulloblastoma
Elevated hepatic transaminase, Hydrocephalus ORPHA:616
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Knobloch Syndrome
Dextrocardia, Hydrocephalus ORPHA:1571
Achondroplasia
Hydrocephalus ORPHA:15
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventricular septal def... ORPHA:567
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect ORPHA:268249
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Opitz-Kaveggia Syndrome
Hydrocephalus, Abnormal heart morphology OMIM:305450
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Monosomy 9Q22.3
Cardiac fibroma, Ventriculomegaly, Hydrocephalus ORPHA:77301
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology ORPHA:401973
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:2166
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Facial Dysmorphism With Multiple Malformations
Tetralogy of Fallot, Hydrocephalus, Transposition of the great arteries, Ventricular septal defect OMIM:227255
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Hydrocephalus, Spina bifida occulta, Ventricular septal defect OMIM:300373
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Shprintzen-Goldberg Syndrome
Mitral valve prolapse, Ventriculomegaly, Abnormal aortic valve morphology, Communicating hydrocep... ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse, Hydrocephalus OMIM:182212
Hajdu-Cheney Syndrome
Ventricular septal defect, Hepatomegaly, Aortic valve stenosis, Mitral stenosis, Splenomegaly, Hy... ORPHA:955
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hydrocephalus ORPHA:250989
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Ventric... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Ventric... ORPHA:363958
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Left ventricular hyper... ORPHA:365
Cryptococcosis
Peritonitis, Cirrhosis, Hydrocephalus ORPHA:1546
Tetrasomy 9P
Pericarditis, Abnormal mitral valve morphology, Biliary atresia, Abnormal cardiac septum morpholo... ORPHA:3310
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hydrocephalus OMIM:613150
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Hydrocephalus, Splenomegaly ORPHA:667
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Hemifacial Microsomia
Tetralogy of Fallot, Hydrocephalus, Ventricular septal defect OMIM:164210
Hajdu-Cheney Syndrome
Abnormal cardiac septum morphology, Hydrocephalus OMIM:102500
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Kabuki Syndrome
Abnormal cardiac septum morphology, Ventriculomegaly, Hydrocephalus ORPHA:2322
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Cholestatic liver disease, Hy... OMIM:270400
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Baller-Gerold Syndrome
Anomalous splenoportal venous system, Hydrocephalus, Spina bifida occulta, Abnormal heart morphology OMIM:218600
Raine Syndrome
Hydrocephalus OMIM:259775
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:257300
Mohr Syndrome
Hydrocephalus OMIM:252100
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum ... ORPHA:2556
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmonic stenosis, Pa... ORPHA:363700
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse, Hyd... OMIM:609192
Stromme Syndrome
Accessory spleen, Hydrocephalus OMIM:243605
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse, Hydrocephalus ORPHA:536467
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:236670
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Tricuspid valve prolapse, Ventricular septal defect ORPHA:261337
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Sp... ORPHA:116
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Arrhinencephaly, Cardiomegaly, Tetralogy of Fall... ORPHA:3472
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Costello Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Pulmonic stenosis, Mitral valv... OMIM:218040
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Arrhinencephaly, Complete atrioventricular canal def... OMIM:236680
Lymphangioleiomyomatosis
Hydrocephalus, Chylopericardium ORPHA:538
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Hydrocephalus OMIM:617011
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Ventricular septal defect, Polysplenia, Cardiomyopathy, Hepatomegaly, Pulmonic s... OMIM:312870
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Osteogenesis Imperfecta
Abnormal endocardium morphology, Ventriculomegaly, Mitral valve prolapse, Hydrocephalus, Noncommu... ORPHA:666
Pseudoaminopterin Syndrome
Patent foramen ovale, Asplenia, Hydrocephalus ORPHA:221120
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic va... OMIM:612289
Cerebrooculonasal Syndrome
Hydrocephalus OMIM:605627
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:457284
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Enlarged polycystic ovaries ORPHA:95699
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:256040
Wolf-Hirschhorn Syndrome
Atrial septal defect, Accessory spleen, Ventricular septal defect, Ventriculomegaly, Biliary trac... OMIM:194190
Craniopharyngioma
Hydrocephalus ORPHA:54595
Tuberous Sclerosis Complex
Hepatic cysts, Cardiac rhabdomyoma, Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Normal pressure hydrocephalus OMIM:216400
Williams Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, Cholelithiasis,... ORPHA:904
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Communicating hydrocephalus ORPHA:309282
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
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Normal pressure hydrocephalus OMIM:133540
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Abnormal heart morphology OMIM:219000
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Peters-Plus Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Biliary tract abnormality, Bil... OMIM:261540
Peters Plus Syndrome
Ventriculomegaly, Bicuspid pulmonary valve, Pulmonic stenosis, Hypoplastic left heart, Spina bifi... ORPHA:709
Chromosome 1P36 Deletion Syndrome
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Ventricular septal de... OMIM:607872
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus OMIM:273395
Loeys-Dietz Syndrome 2
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse, Hyd... OMIM:610168
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Holoprosencephaly 9
Holoprosencephaly, Hydrocephalus OMIM:610829
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Hydrocephalus OMIM:619321
Meningioma
Hydrocephalus ORPHA:2495
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Neurofibromatosis Type 2
Hydrocephalus ORPHA:637
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Hepatic calcification, P... ORPHA:51608
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3