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
abnormal brain morphology Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
abnormal heart morphology Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
increased total body fat amount Tmem63cem1(IMPC)Rbrc HOM Early adult 3.43×10-05
enlarged heart Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
abnormal liver morphology Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00
hydrocephaly Tmem63cem1(IMPC)Rbrc HOM Late adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

21 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus 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
Ventriculomegaly, Hydrocephalus OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor... OMIM:607091
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
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
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Congenital Toxoplasmosis
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hydrocep... ORPHA:858
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... OMIM:607361
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic... OMIM:618052
Congenital Hydrocephalus
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Sp... OMIM:610333
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation 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
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Conge... OMIM:619111
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Hydrocephalus, Splenomegaly, Pericarditis ORPHA:163596
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrocephalus, Cardiomegaly, Splenomegaly OMIM:269920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus 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
Ventriculomegaly, Hydrocephalus OMIM:614830
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Meningocele, Anenc... OMIM:611134
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Hepatic failure, Cholestasis, Splenomegaly, Ventricular septa... OMIM:615630
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hydrocephalus OMIM:615862
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Dilated fourth ventricle, Situs inversus totalis, Patent f... OMIM:620642
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc... OMIM:212140
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Ca... OMIM:619051
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Aqueductal stenosis, Hydrocephalus OMIM:276950
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Mitral valve prolapse ORPHA:2183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Fried Syndrome
Hydrocephalus ORPHA:85335
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Mulibrey Nanism
Ventriculomegaly, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... OMIM:620609
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:602501
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:398124
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus OMIM:243440
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly, Cardiomega... OMIM:235200
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... 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
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cardiomyopathy OMIM:613155
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Aq... OMIM:306955
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus ORPHA:272
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Triploidy
Abnormality of the gallbladder, Hydrocephalus, Abnormal cardiac septum morphology, Hepatomegaly, ... ORPHA:3376
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Left ventricular hypertrophy, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Splenomeg... OMIM:614576
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc... ORPHA:1335
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Primary Ciliary Dyskinesia
Ventriculomegaly, Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial... ORPHA:244
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly ORPHA:93274
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Hec Syndrome
Communicating hydrocephalus, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great art... ORPHA:1926
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Hydrocephalus, Anen... OMIM:612284
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Atrial septal defect OMIM:175700
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hydrocephalus, Hepatomegal... ORPHA:79332
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:218350
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Lissencephaly 5
Occipital encephalocele, Hydrocephalus 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
Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Tetralogy of Fallot, Atrioventri... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Refsum Disease, Classic
Cardiomegaly, Increased CSF protein concentration, Cardiomyopathy OMIM:266500
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Beck-Fahrner Syndrome
Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Ventricular septal ... OMIM:618798
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal heart morphology, Abnormality of ... ORPHA:1666
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus, Abnormal cardiac se... ORPHA:2075
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Griscelli Syndrome
Hepatitis, Encephalocele, Splenomegaly, Hydrocephalus, Hepatomegaly, Jaundice ORPHA:381
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ... OMIM:614886
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice, Hepatom... ORPHA:57777
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Ventricular septal defect OMIM:603387
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Atrial septal defect, Hydrocephalus, Right atrial enlargement, Co... OMIM:615219
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calci... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Atrial septal defect ORPHA:2655
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhos... ORPHA:465508
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:219730
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Occipital encephalocele, Portal hyperten... ORPHA:1454
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus, Dextrocardia, ... OMIM:314390
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Hydrocephalus ORPHA:370959
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly OMIM:272200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Increased CSF lactate, Cardiomegaly ORPHA:391428
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Tetrasomy 15Q26
Hydrocephalus, Atrial septal defect, Dandy-Walker malformation OMIM:614846
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Adams-Oliver Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Encephalocele, Congenital hepatic fibro... ORPHA:974
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventri... OMIM:619895
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice OMIM:603903
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration... OMIM:608836
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventriculomegaly, Cardiomegaly, Ventricular septal defect OMIM:616897
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Atrial se... OMIM:609029
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Decreased CSF copper concentration, Ventriculomegaly, Increased CSF lactate OMIM:620306
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmo... OMIM:612863
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus, Abnormal cardiac septum morphology ORPHA:238769
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Abnormal heart morphology ORPHA:93400
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Hydrocephalus, ... OMIM:619377
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Hydrocephalus, Atrial septa... OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... OMIM:253800
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:612938
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... OMIM:264480
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Situs inversus totalis, Hydrocephalus, Dextrocardia, Spina bifida occulta OMIM:613686
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Ventricular septal defect ORPHA:77298
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Dextrocardia, Spina bifida occulta ORPHA:2437
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Abnormality of the liver, Hydrocephalus ORPHA:2169
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly OMIM:309900
Temple Syndrome
Hydrocephalus ORPHA:254516
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Hydrocephalus OMIM:601499
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... ORPHA:2306
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Atrial se... ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Elevated circulating asp... OMIM:613154
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:616362
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Hydrocephal... OMIM:261740
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Hydrocephalus, Atrial septal defect, Dandy-Walker malformation ORPHA:459061
Thoracoabdominal Syndrome
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly OMIM:313850
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Myopathy, Centronuclear, X-Linked
Elevated circulating hepatic transaminase concentration, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Lowry-Maclean Syndrome
Atrioventricular canal defect, Abnormality of the abdominal organs, Hydrocephalus ORPHA:2409
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Splenomegaly ORPHA:585
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Hemangioblastoma
Hydrocephalus ORPHA:252054
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subvalvular aortic stenosis, Hydrocephalus, Atrial septal defect, Dand... OMIM:613001
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:608013
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Whipple Disease
Splenomegaly, Hydrocephalus, Myocarditis, Hepatomegaly, Pericarditis ORPHA:3452
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Increased CSF protein concentration, Cardiomyopathy 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
Ventriculomegaly, Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricul... OMIM:620066
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Cardiomyopathy, Hepatic calcification, Hydrocephalus, Hepatomegaly ORPHA:157
Crouzon Syndrome
Hydrocephalus ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617822
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus ORPHA:261290
Temple Syndrome
Hydrocephalus OMIM:616222
Trisomy 1Q
Ventriculomegaly, Hydrocephalus, Ventricular septal defect ORPHA:261344
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Hydrocephalus, Splenomegaly OMIM:259700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Arachnoiditis
Hydrocephalus ORPHA:137817
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:308552
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the liver, Hydrocephalus ORPHA:1834
Distal Triplication 15Q
Abnormal heart morphology, Hydrocephalus, Atrial septal defect, Dandy-Walker malformation ORPHA:314588
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Hydrocephalus OMIM:259710
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:620156
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Hurler Syndrome
Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegaly, Hydrocephalus, Hepa... OMIM:607014
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:300514
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Hydrocephalus, Encephalocele ORPHA:1865
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Ventriculomegaly, Hepatocellular necrosis, Hepatosplenomegaly, Microvesi... OMIM:618278
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Hurler Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Hydroc... ORPHA:93473
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormal aortic valve... ORPHA:579
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Encephalocele ORPHA:475
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Encephalocele, Congenital hepatic fibrosis, Hydrocephal... ORPHA:564
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Dextrocardia ORPHA:220493
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Hepatomegaly OMIM:253220
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus, Splenomegaly ORPHA:2969
Bresek Syndrome
Hydrocephalus ORPHA:85284
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septa... OMIM:602782
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus, Situs inversus totalis OMIM:244400
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Hydrocephalus... OMIM:269860
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hydrocephalus OMIM:602361
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Hydrocephalus OMIM:619951
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Abnormal heart morphology, Hydrocephalus OMIM:239300
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Limb Body Wall Complex
Abnormal heart morphology, Myelomeningocele, Abnormality of the liver, Encephalocele, Ventricular... ORPHA:2369
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilata... OMIM:620371
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Mitral valve prolapse ORPHA:93932
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Muenke Syndrome
Hydrocephalus ORPHA:53271
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Dysplastic ... ORPHA:1600
Hydrolethalus
Anencephaly, Hydrocephalus ORPHA:2189
Mucopolysaccharidosis Type 3
Ventriculomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morpholog... ORPHA:581
Desmosterolosis
Hydrocephalus, Ventriculomegaly, Splenomegaly, Anomalous pulmonary venous return ORPHA:35107
Congenital Syphilis
Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Hydrocephalus, Myocarditis, CSF pl... ORPHA:499009
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Annular pancreas, Atrial septal defect OMIM:618162
Lateral Meningocele Syndrome
Bicuspid aortic valve, Meningocele, Hydrocephalus, Ventricular septal defect OMIM:130720
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly OMIM:259720
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Splenomegaly OMIM:612301
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse OMIM:616914
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Gaucher Disease
Aortic valve calcification, Splenic infarction, Ventriculomegaly, Cholelithiasis, Hepatic failure... ORPHA:355
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Patent foramen ovale,... ORPHA:505248
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Coccidioidomycosis
Increased CSF protein concentration, Hypoglycorrhachia, Abnormality of the spleen, Abnormality of... ORPHA:228123
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h... OMIM:619534
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Atrial septal defect OMIM:207410
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Occipital meningocele, Hydrocephalus, Atrial septal defect, Anencephaly OMIM:616546
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Pulmonic stenosis, Hydrocephalus, Atrial septal defect, Dandy-Walker malformation OMIM:257300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Thakker-Donnai Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Transposition of the great arteries, Ventricula... ORPHA:1780
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Splenomegaly, Cardiomyopathy OMIM:616084
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Mitral valve prolapse OMIM:104350
Trisomy 8P
Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Aplasia/Hypoplasia of ... ORPHA:264450
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hydrocephalus OMIM:614969
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Hydrocephalus, Ventricular septal defect ORPHA:137675
Bohring-Opitz Syndrome
Ventriculomegaly, Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphol... ORPHA:97297
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Splenomegaly, Hydrocephalus, Atrial septal defect, Pulmonic stenosis OMIM:115150
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Hydrocephalus, Atrial septal defect... ORPHA:1340
Neurooculorenal Syndrome
Ventriculomegaly, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve... OMIM:620305
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Colpocephaly, Overriding aorta, Atrial se... OMIM:309801
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Cardiomyopathy, Splenomegaly, Mitral stenosis, Hydrocephalus, Hepatomegaly OMIM:253200
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Myelomeningocele, Encephalocele, Hydrocephalus, Abnormal cardiac... ORPHA:90652
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:620376
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Orofaciodigital Syndrome I
Hepatic fibrosis, Abnormal heart morphology, Myelomeningocele, Hepatic cysts, Hydrocephalus, Panc... OMIM:311200
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Jacobsen Syndrome
Annular pancreas, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Holoprosencephaly OMIM:147791
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Enlarged kidn... OMIM:130650
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Car... ORPHA:14
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Abnormality of the pancreas ORPHA:1555
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
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
Ventriculomegaly, Hydrocephalus OMIM:616538
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Ventricular septal defect OMIM:619575
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Abnormality of the spleen, Abnormal pulmonary valve morph... ORPHA:2162
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Ventriculomegaly, Occipital encephalo... OMIM:249000
Functioning Gonadotropic Adenoma
Enlarged polycystic ovaries, Hydrocephalus ORPHA:91348
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele, Abnormal cardiac septum morphology ORPHA:2166
Desmosterolosis
Ventriculomegaly, Total anomalous pulmonary venous return, Hydrocephalus OMIM:602398
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal... ORPHA:63259
Mucolipidosis Ii Alpha/Beta
Myelopathy, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology ORPHA:250989
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Enlarged kidney OMIM:612651
Aicardi-Goutières Syndrome
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyo... ORPHA:51
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Ventriculomegaly, Cholelithiasis, Hepatic fib... ORPHA:2072
Achondroplasia
Hydrocephalus ORPHA:15
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Hydrocephalus ORPHA:137667
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Hepatosplenomegaly, Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Mirage Syndrome
Hypoplastic spleen, Hydrocephalus 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
Myelopathy, Hydrocephalus ORPHA:97339
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Ogden Syndrome
Ventriculomegaly, Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect,... OMIM:300855
Crouzon Syndrome
Hydrocephalus OMIM:123500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation 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, Hepatosplenomegaly, Enlarged kidney ORPHA:168569
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Abnormal heart morphology, Jaundice, Dilated cardiomyopathy, Hydrocephalus ORPHA:79282
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Absent gallbladder, Atrial septal defect, Ventricular septal defect ORPHA:163979
Apert Syndrome
Ventriculomegaly, Overriding aorta, Hydrocephalus, Ventricular septal defect OMIM:101200
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Ventriculomegaly, Communicating hydrocephalus, Enlarged kidney OMIM:618188
Fanconi Anemia
Ventriculomegaly, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormality of the liver, Abn... ORPHA:84
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Atrial septal ... ORPHA:96121
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
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
Abnormal heart morphology, Hydrocephalus OMIM:305450
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma OMIM:109400
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Annular pancreas, Hydrocephalus OMIM:227646
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Abnormal anatomic location of the heart, Hydro... ORPHA:2461
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus, Cardiac fibroma ORPHA:77301
Mucopolysaccharidosis Type 2
Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Medulloblastoma
Elevated circulating hepatic transaminase concentration, Hydrocephalus ORPHA:616
Mend Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus, Abnormal heart morphology ORPHA:401973
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus, Abnormal aortic valve morphology, Mitral valve pro... ORPHA:2462
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Hajdu-Cheney Syndrome
Aortic valve stenosis, Mitral stenosis, Splenomegaly, Ventricular septal defect, Hydrocephalus, H... ORPHA:955
Marshall-Smith Syndrome
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Dysplastic aort... OMIM:602535
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Ventricu... OMIM:270400
Aymé-Gripp Syndrome
Pericardial effusion, Ventriculomegaly, Hydrocephalus, Pericarditis ORPHA:1272
22Q11.2 Deletion Syndrome
Cholelithiasis, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Splenomegaly, Abnormal ... ORPHA:567
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis, Atrial septal defect OMIM:619512
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:613603
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules 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
Ventriculomegaly, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid ... ORPHA:363958
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Hydrocephalus, Abnormal pulmonary valve morphology, Splenomegaly ORPHA:667
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Meningoencephalocele, Dandy-Walker malf... OMIM:236670
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Hydrocephalus OMIM:277400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:365
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta, Atrial septal defect, Ventricular septal defect OMIM:300373
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Tetrasomy 9P
Absent gallbladder, Patent foramen ovale, Abnormal mitral valve morphology, Biliary atresia, Hydr... ORPHA:3310
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Cryptococcosis
Peritonitis, Cirrhosis, Hydrocephalus 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
Accessory spleen, Hydrocephalus OMIM:243605
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:605627
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Alexander Disease
Aqueductal stenosis, Hydrocephalus ORPHA:58
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Aqueductal stenosis, Hydrocephalus, Ventricular septal defect OMIM:154400
Kabuki Syndrome
Ventriculomegaly, Hydrocephalus, 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
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Ven... OMIM:619475
Alpha-N-Acetylgalactosaminidase Deficiency Type 2