Human Phenotype Ontology 
Grandparent Node:
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Morphological abnormality of the central nervous system (HP:0002011)help
Parent Node:
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Abnormality of the cerebral ventricles (HP:0002118)help
Parent Node:
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Abnormality of the cerebrospinal fluid (HP:0002921)help
..Starting node
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Hydrocephalus (HP:0000238)help
Term ID: 238
Name: Hydrocephalus
Synonym: Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain
Definition: Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Comments:
Reference: HP:0000238
Genes and Diseases:
 
       Child Nodes:
........expandCommunicating hydrocephalus (HP:0001334) help
........expandNormal pressure hydrocephalus (HP:0002343) help
........expandSevere hydrocephalus (HP:0006882) help
........expandNoncommunicating hydrocephalus (HP:0010953) help

 Sister Nodes: 
..expandAbnormal CSF metabolite level (HP:0025454) help
..expandAbnormal CSF protein level (HP:0025456) help
..expandAbnormal CSF/serum albumin ratio (HP:0030981) help
..expandCerebrospinal fluid rhinorrhoea (HP:0030998) help
..expandCSF pleocytosis (HP:0012229) help
..expandExtra-axial cerebrospinal fluid accumulation (HP:0012510) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000238HP:0000238Hydrocephalus0AKT3 CL E G H1000083473ORPHA128175393611223
HP:0000238HP:0000238Hydrocephalus0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0000238HP:0000238Hydrocephalus0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000238HP:0000238Hydrocephalus0AP1S2 CL E G H890585335ORPHA114204560300629
HP:0000238HP:0000238Hydrocephalus0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0000238HP:0000238Hydrocephalus0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0000238HP:0000238Hydrocephalus0B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000238HP:0000238Hydrocephalus0B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0000238HP:0000238Hydrocephalus0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000238HP:0000238Hydrocephalus0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000238HP:0000238Hydrocephalus0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000238HP:0000238Hydrocephalus0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000238HP:0000238Hydrocephalus0B4GALT1 CL E G H268379332ORPHA12111924137060
HP:0000238HP:0000238Hydrocephalus0B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0000238HP:0000238Hydrocephalus0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0000238HP:0000238Hydrocephalus0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000238HP:0000238Hydrocephalus0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000238HP:0000238Hydrocephalus0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0000238HP:0000238Hydrocephalus0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM11119219967611204
HP:0000238HP:0000238Hydrocephalus0CCND2 CL E G H89483473ORPHA111851583123833
HP:0000238HP:0000238Hydrocephalus0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM111851583123833
HP:0000238HP:0000238Hydrocephalus0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000238HP:0000238Hydrocephalus0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000238HP:0000238Hydrocephalus0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0000238HP:0000238Hydrocephalus0COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000238HP:0000238Hydrocephalus0COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0000238HP:0000238Hydrocephalus0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11144982202120130
HP:0000238HP:0000238Hydrocephalus0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000238HP:0000238Hydrocephalus0CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM12513618688609720
HP:0000238HP:0000238Hydrocephalus0CYP26C1 CL E G H340665398189ORPHA1113320577608428
HP:0000238HP:0000238Hydrocephalus0DAG1 CL E G H1605899ORPHA1113012666128239
HP:0000238HP:0000238Hydrocephalus0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0000238HP:0000238Hydrocephalus0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM1101372859606418
HP:0000238HP:0000238Hydrocephalus0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000238HP:0000238Hydrocephalus0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0000238HP:0000238Hydrocephalus0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0000238HP:0000238Hydrocephalus0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17545826594610285
HP:0000238HP:0000238Hydrocephalus0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0000238HP:0000238Hydrocephalus0EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM17663330602033
HP:0000238HP:0000238Hydrocephalus0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0000238HP:0000238Hydrocephalus0ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0000238HP:0000238Hydrocephalus0ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0000238HP:0000238Hydrocephalus0ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0000238HP:0000238Hydrocephalus0ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0000238HP:0000238Hydrocephalus0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000238HP:0000238Hydrocephalus0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0000238HP:0000238Hydrocephalus0FANCB CL E G H21873412ORPHA1213523583300515
HP:0000238HP:0000238Hydrocephalus0FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM1213523583300515
HP:0000238HP:0000238Hydrocephalus0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0000238HP:0000238Hydrocephalus0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0000238HP:0000238Hydrocephalus0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226193262ORPHA1774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM1774313690134934
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147588ORPHA114140217997606596
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147899ORPHA114140217997606596
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218899ORPHA1594503622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218588ORPHA1594503622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218272VACTERL hydrocephalyORPHA1594503622607440
HP:0000238HP:0000238Hydrocephalus0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000238HP:0000238Hydrocephalus0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000238HP:0000238Hydrocephalus0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM11710720105610865
HP:0000238HP:0000238Hydrocephalus0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000238HP:0000238Hydrocephalus0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000238HP:0000238Hydrocephalus0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12514624115606890
HP:0000238HP:0000238Hydrocephalus0GBA CL E G H26292072ORPHA14942064177606463
HP:0000238HP:0000238Hydrocephalus0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0000238HP:0000238Hydrocephalus0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM11352334235137780
HP:0000238HP:0000238Hydrocephalus0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000238HP:0000238Hydrocephalus0GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000238HP:0000238Hydrocephalus0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000238HP:0000238Hydrocephalus0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000238HP:0000238Hydrocephalus0GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM11115829501609245
HP:0000238HP:0000238Hydrocephalus0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0000238HP:0000238Hydrocephalus0HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0000238HP:0000238Hydrocephalus0HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0000238HP:0000238Hydrocephalus0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000238HP:0000238Hydrocephalus0HDAC6 CL E G H10013163966ORPHA1319614064300272
HP:0000238HP:0000238Hydrocephalus0HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM1319614064300272
HP:0000238HP:0000238Hydrocephalus0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000238HP:0000238Hydrocephalus0HYLS1 CL E G H2198442189ORPHA1212226558610693
HP:0000238HP:0000238Hydrocephalus0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000238HP:0000238Hydrocephalus0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0000238HP:0000238Hydrocephalus0IDUA CL E G H342593473ORPHA12916225391252800
HP:0000238HP:0000238Hydrocephalus0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0000238HP:0000238Hydrocephalus0IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM176429669614068
HP:0000238HP:0000238Hydrocephalus0ISPD CL E G H729920899ORPHA147537276614631
HP:0000238HP:0000238Hydrocephalus0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000238HP:0000238Hydrocephalus0KDM6A CL E G H74032322ORPHA18131112637300128
HP:0000238HP:0000238Hydrocephalus0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000238HP:0000238Hydrocephalus0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000238HP:0000238Hydrocephalus0KIF1A CL E G H5472836ORPHA1431059888601255
HP:0000238HP:0000238Hydrocephalus0KIF7 CL E G H3746542189ORPHA14538630497611254
HP:0000238HP:0000238Hydrocephalus0KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM14538630497611254
HP:0000238HP:0000238Hydrocephalus0KMT2D CL E G H80852322ORPHA171213507133602113
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H38972182ORPHA12935196470308840
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM12935196470308840
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM12935196470308840
HP:0000238HP:0000238Hydrocephalus0LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM1102146486150240
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM1284066511603590
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000238HP:0000238Hydrocephalus0MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0000238HP:0000238Hydrocephalus0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000238HP:0000238Hydrocephalus0MMACHC CL E G H2597479282ORPHA19527424525609831
HP:0000238HP:0000238Hydrocephalus0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000238HP:0000238Hydrocephalus0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM13274997448300415
HP:0000238HP:0000238Hydrocephalus0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1222777525601296
HP:0000238HP:0000238Hydrocephalus0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000238HP:0000238Hydrocephalus0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1301164917765613113
HP:0000238HP:0000238Hydrocephalus0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0000238HP:0000238Hydrocephalus0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000238HP:0000238Hydrocephalus0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000238HP:0000238Hydrocephalus0OGDH CL E G H496731Serpiginous choroiditisORPHA11678124613022
HP:0000238HP:0000238Hydrocephalus0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0000238HP:0000238Hydrocephalus0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM111478548176790
HP:0000238HP:0000238Hydrocephalus0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0000238HP:0000238Hydrocephalus0PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0000238HP:0000238Hydrocephalus0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0000238HP:0000238Hydrocephalus0PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0000238HP:0000238Hydrocephalus0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191018980603157
HP:0000238HP:0000238Hydrocephalus0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM178859071173350
HP:0000238HP:0000238Hydrocephalus0POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000238HP:0000238Hydrocephalus0POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0000238HP:0000238Hydrocephalus0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000238HP:0000238Hydrocephalus0POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0000238HP:0000238Hydrocephalus0POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM1919125902614828
HP:0000238HP:0000238Hydrocephalus0POMK CL E G H84197899ORPHA1814826267615247
HP:0000238HP:0000238Hydrocephalus0POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000238HP:0000238Hydrocephalus0POMT1 CL E G H10585899ORPHA1965089202607423
HP:0000238HP:0000238Hydrocephalus0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954899ORPHA17550219743607439
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000238HP:0000238Hydrocephalus0POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000238HP:0000238Hydrocephalus0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000238HP:0000238Hydrocephalus0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112409282600590
HP:0000238HP:0000238Hydrocephalus0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0000238HP:0000238Hydrocephalus0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000238HP:0000238Hydrocephalus0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000238HP:0000238Hydrocephalus0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM152920319585601309
HP:0000238HP:0000238Hydrocephalus0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000238HP:0000238Hydrocephalus0PTEN CL E G H572865285ORPHA165820199588601728
HP:0000238HP:0000238Hydrocephalus0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM1411449721179035
HP:0000238HP:0000238Hydrocephalus0RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM116369817179617
HP:0000238HP:0000238Hydrocephalus0RAP1A CL E G H59062322ORPHA12209855179520
HP:0000238HP:0000238Hydrocephalus0RAP1B CL E G H59082322ORPHA11199857179530
HP:0000238HP:0000238Hydrocephalus0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1602119863601592
HP:0000238HP:0000238Hydrocephalus0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0000238HP:0000238Hydrocephalus0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0000238HP:0000238Hydrocephalus0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0000238HP:0000238Hydrocephalus0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0000238HP:0000238Hydrocephalus0RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0000238HP:0000238Hydrocephalus0RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0000238HP:0000238Hydrocephalus0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM1127810706607186
HP:0000238HP:0000238Hydrocephalus0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000238HP:0000238Hydrocephalus0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1418415454602775
HP:0000238HP:0000238Hydrocephalus0SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM123229165614776
HP:0000238HP:0000238Hydrocephalus0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0000238HP:0000238Hydrocephalus0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000238HP:0000238Hydrocephalus0SMARCB1 CL E G H659899966ORPHA111948211103601607
HP:0000238HP:0000238Hydrocephalus0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0000238HP:0000238Hydrocephalus0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0000238HP:0000238Hydrocephalus0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000238HP:0000238Hydrocephalus0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000238HP:0000238Hydrocephalus0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0000238HP:0000238Hydrocephalus0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0000238HP:0000238Hydrocephalus0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0000238HP:0000238Hydrocephalus0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0000238HP:0000238Hydrocephalus0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000238HP:0000238Hydrocephalus0TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0000238HP:0000238Hydrocephalus0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0000238HP:0000238Hydrocephalus0TP53 CL E G H71572807ORPHA1541203511998191170
HP:0000238HP:0000238Hydrocephalus0VANGL2 CL E G H57216182940Neural tube defect182940C0027794OMIM1121915511600533
HP:0000238HP:0000238Hydrocephalus0VHL CL E G H7428892Billet Bear syndromeORPHA1617109712687608537
HP:0000238HP:0000238Hydrocephalus0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0000238HP:0000238Hydrocephalus0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000238HP:0000238Hydrocephalus0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0000238HP:0000238Hydrocephalus0WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM11721126600614218
HP:0000238HP:0000238Hydrocephalus0WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
HP:0000238HP:0000238Hydrocephalus0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122212782165330
HP:0000238HP:0000238Hydrocephalus0ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000238HP:0000238Hydrocephalus0ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM112315412873603073
HP:0000238HP:0000238Hydrocephalus0ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM14225212874300265
HP:0000238HP:0000238Hydrocephalus0ZNHIT3 CL E G H93262836ORPHA119912309604500
HP:0000238HP:0000238Hydrocephalus1AKT3 CL E G H1000083473ORPHA128175393611223
HP:0000238HP:0000238Hydrocephalus1AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0000238HP:0000238Hydrocephalus1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000238HP:0000238Hydrocephalus1AP1S2 CL E G H890585335ORPHA114204560300629
HP:0000238HP:0000238Hydrocephalus1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0000238HP:0000238Hydrocephalus1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0000238HP:0000238Hydrocephalus1B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000238HP:0000238Hydrocephalus1B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0000238HP:0000238Hydrocephalus1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000238HP:0000238Hydrocephalus1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000238HP:0000238Hydrocephalus1B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000238HP:0000238Hydrocephalus1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000238HP:0000238Hydrocephalus1B4GALT1 CL E G H268379332ORPHA12111924137060
HP:0000238HP:0000238Hydrocephalus1B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0000238HP:0000238Hydrocephalus1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0000238HP:0000238Hydrocephalus1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000238HP:0000238Hydrocephalus1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000238HP:0000238Hydrocephalus1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0000238HP:0000238Hydrocephalus1CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM11119219967611204
HP:0000238HP:0000238Hydrocephalus1CCND2 CL E G H89483473ORPHA111851583123833
HP:0000238HP:0000238Hydrocephalus1CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM111851583123833
HP:0000238HP:0000238Hydrocephalus1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000238HP:0000238Hydrocephalus1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000238HP:0000238Hydrocephalus1CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0000238HP:0000238Hydrocephalus1COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000238HP:0000238Hydrocephalus1COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0000238HP:0000238Hydrocephalus1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11144982202120130
HP:0000238HP:0000238Hydrocephalus1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000238HP:0000238Hydrocephalus1CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM12513618688609720
HP:0000238HP:0000238Hydrocephalus1CYP26C1 CL E G H340665398189ORPHA1113320577608428
HP:0000238HP:0000238Hydrocephalus1DAG1 CL E G H1605899ORPHA1113012666128239
HP:0000238HP:0000238Hydrocephalus1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0000238HP:0000238Hydrocephalus1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM1101372859606418
HP:0000238HP:0000238Hydrocephalus1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000238HP:0000238Hydrocephalus1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0000238HP:0000238Hydrocephalus1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0000238HP:0000238Hydrocephalus1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17545826594610285
HP:0000238HP:0000238Hydrocephalus1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0000238HP:0000238Hydrocephalus1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM17663330602033
HP:0000238HP:0000238Hydrocephalus1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0000238HP:0000238Hydrocephalus1ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0000238HP:0000238Hydrocephalus1ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0000238HP:0000238Hydrocephalus1ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0000238HP:0000238Hydrocephalus1ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0000238HP:0000238Hydrocephalus1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000238HP:0000238Hydrocephalus1FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0000238HP:0000238Hydrocephalus1FANCB CL E G H21873412ORPHA1213523583300515
HP:0000238HP:0000238Hydrocephalus1FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM1213523583300515
HP:0000238HP:0000238Hydrocephalus1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0000238HP:0000238Hydrocephalus1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0000238HP:0000238Hydrocephalus1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H226193262ORPHA1774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM1774313690134934
HP:0000238HP:0000238Hydrocephalus1FKRP CL E G H79147899ORPHA114140217997606596
HP:0000238HP:0000238Hydrocephalus1FKRP CL E G H79147588ORPHA114140217997606596
HP:0000238HP:0000238Hydrocephalus1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000238HP:0000238Hydrocephalus1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000238HP:0000238Hydrocephalus1FKTN CL E G H2218899ORPHA1594503622607440
HP:0000238HP:0000238Hydrocephalus1FKTN CL E G H2218588ORPHA1594503622607440
HP:0000238HP:0000238Hydrocephalus1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000238HP:0000238Hydrocephalus1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000238HP:0000238Hydrocephalus1FKTN CL E G H2218272VACTERL hydrocephalyORPHA1594503622607440
HP:0000238HP:0000238Hydrocephalus1FLNA CL E G H231690652ORPHA127114723754300017
HP:0000238HP:0000238Hydrocephalus1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000238HP:0000238Hydrocephalus1FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM11710720105610865
HP:0000238HP:0000238Hydrocephalus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000238HP:0000238Hydrocephalus1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000238HP:0000238Hydrocephalus1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12514624115606890
HP:0000238HP:0000238Hydrocephalus1GBA CL E G H26292072ORPHA14942064177606463
HP:0000238HP:0000238Hydrocephalus1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0000238HP:0000238Hydrocephalus1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM11352334235137780
HP:0000238HP:0000238Hydrocephalus1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000238HP:0000238Hydrocephalus1GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000238HP:0000238Hydrocephalus1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000238HP:0000238Hydrocephalus1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000238HP:0000238Hydrocephalus1GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM11115829501609245
HP:0000238HP:0000238Hydrocephalus1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0000238HP:0000238Hydrocephalus1HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0000238HP:0000238Hydrocephalus1HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0000238HP:0000238Hydrocephalus1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000238HP:0000238Hydrocephalus1HDAC6 CL E G H10013163966ORPHA1319614064300272
HP:0000238HP:0000238Hydrocephalus1HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM1319614064300272
HP:0000238HP:0000238Hydrocephalus1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000238HP:0000238Hydrocephalus1HYLS1 CL E G H2198442189ORPHA1212226558610693
HP:0000238HP:0000238Hydrocephalus1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000238HP:0000238Hydrocephalus1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0000238HP:0000238Hydrocephalus1IDUA CL E G H342593473ORPHA12916225391252800
HP:0000238HP:0000238Hydrocephalus1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0000238HP:0000238Hydrocephalus1IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM176429669614068
HP:0000238HP:0000238Hydrocephalus1ISPD CL E G H729920899ORPHA147537276614631
HP:0000238HP:0000238Hydrocephalus1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000238HP:0000238Hydrocephalus1KDM6A CL E G H74032322ORPHA18131112637300128
HP:0000238HP:0000238Hydrocephalus1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000238HP:0000238Hydrocephalus1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000238HP:0000238Hydrocephalus1KIF1A CL E G H5472836ORPHA1431059888601255
HP:0000238HP:0000238Hydrocephalus1KIF7 CL E G H3746542189ORPHA14538630497611254
HP:0000238HP:0000238Hydrocephalus1KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM14538630497611254
HP:0000238HP:0000238Hydrocephalus1KMT2D CL E G H80852322ORPHA171213507133602113
HP:0000238HP:0000238Hydrocephalus1L1CAM CL E G H38972182ORPHA12935196470308840
HP:0000238HP:0000238Hydrocephalus1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM12935196470308840
HP:0000238HP:0000238Hydrocephalus1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0000238HP:0000238Hydrocephalus1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM12935196470308840
HP:0000238HP:0000238Hydrocephalus1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM1102146486150240
HP:0000238HP:0000238Hydrocephalus1LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0000238HP:0000238Hydrocephalus1LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000238HP:0000238Hydrocephalus1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM1284066511603590
HP:0000238HP:0000238Hydrocephalus1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000238HP:0000238Hydrocephalus1MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0000238HP:0000238Hydrocephalus1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000238HP:0000238Hydrocephalus1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000238HP:0000238Hydrocephalus1MMACHC CL E G H2597479282ORPHA19527424525609831
HP:0000238HP:0000238Hydrocephalus1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000238HP:0000238Hydrocephalus1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM13274997448300415
HP:0000238HP:0000238Hydrocephalus1MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1222777525601296
HP:0000238HP:0000238Hydrocephalus1NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000238HP:0000238Hydrocephalus1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1301164917765613113
HP:0000238HP:0000238Hydrocephalus1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0000238HP:0000238Hydrocephalus1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000238HP:0000238Hydrocephalus1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000238HP:0000238Hydrocephalus1OGDH CL E G H496731Serpiginous choroiditisORPHA11678124613022
HP:0000238HP:0000238Hydrocephalus1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0000238HP:0000238Hydrocephalus1P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM111478548176790
HP:0000238HP:0000238Hydrocephalus1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0000238HP:0000238Hydrocephalus1PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0000238HP:0000238Hydrocephalus1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0000238HP:0000238Hydrocephalus1PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0000238HP:0000238Hydrocephalus1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM191018980603157
HP:0000238HP:0000238Hydrocephalus1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM178859071173350
HP:0000238HP:0000238Hydrocephalus1POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000238HP:0000238Hydrocephalus1POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0000238HP:0000238Hydrocephalus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000238HP:0000238Hydrocephalus1POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0000238HP:0000238Hydrocephalus1POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM1919125902614828
HP:0000238HP:0000238Hydrocephalus1POMK CL E G H84197899ORPHA1814826267615247
HP:0000238HP:0000238Hydrocephalus1POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000238HP:0000238Hydrocephalus1POMT1 CL E G H10585899ORPHA1965089202607423
HP:0000238HP:0000238Hydrocephalus1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000238HP:0000238Hydrocephalus1POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000238HP:0000238Hydrocephalus1POMT2 CL E G H29954899ORPHA17550219743607439
HP:0000238HP:0000238Hydrocephalus1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000238HP:0000238Hydrocephalus1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000238HP:0000238Hydrocephalus1POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000238HP:0000238Hydrocephalus1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000238HP:0000238Hydrocephalus1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112409282600590
HP:0000238HP:0000238Hydrocephalus1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0000238HP:0000238Hydrocephalus1PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000238HP:0000238Hydrocephalus1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000238HP:0000238Hydrocephalus1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0000238HP:0000238Hydrocephalus1PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0000238HP:0000238Hydrocephalus1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000238HP:0000238Hydrocephalus1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM152920319585601309
HP:0000238HP:0000238Hydrocephalus1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000238HP:0000238Hydrocephalus1PTEN CL E G H572865285ORPHA165820199588601728
HP:0000238HP:0000238Hydrocephalus1PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM1411449721179035
HP:0000238HP:0000238Hydrocephalus1RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM116369817179617
HP:0000238HP:0000238Hydrocephalus1RAP1A CL E G H59062322ORPHA12209855179520
HP:0000238HP:0000238Hydrocephalus1RAP1B CL E G H59082322ORPHA11199857179530
HP:0000238HP:0000238Hydrocephalus1RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1602119863601592
HP:0000238HP:0000238Hydrocephalus1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0000238HP:0000238Hydrocephalus1RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0000238HP:0000238Hydrocephalus1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0000238HP:0000238Hydrocephalus1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0000238HP:0000238Hydrocephalus1RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0000238HP:0000238Hydrocephalus1RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0000238HP:0000238Hydrocephalus1SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM1127810706607186
HP:0000238HP:0000238Hydrocephalus1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000238HP:0000238Hydrocephalus1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1418415454602775
HP:0000238HP:0000238Hydrocephalus1SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM123229165614776
HP:0000238HP:0000238Hydrocephalus1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0000238HP:0000238Hydrocephalus1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000238HP:0000238Hydrocephalus1SMARCB1 CL E G H659899966ORPHA111948211103601607
HP:0000238HP:0000238Hydrocephalus1SNX10 CL E G H29887667ORPHA1134614974614780
HP:0000238HP:0000238Hydrocephalus1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0000238HP:0000238Hydrocephalus1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000238HP:0000238Hydrocephalus1SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000238HP:0000238Hydrocephalus1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0000238HP:0000238Hydrocephalus1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0000238HP:0000238Hydrocephalus1TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0000238HP:0000238Hydrocephalus1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0000238HP:0000238Hydrocephalus1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000238HP:0000238Hydrocephalus1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000238HP:0000238Hydrocephalus1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0000238HP:0000238Hydrocephalus1TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0000238HP:0000238Hydrocephalus1TP53 CL E G H71572807ORPHA1541203511998191170
HP:0000238HP:0000238Hydrocephalus1VANGL2 CL E G H57216182940Neural tube defect182940C0027794OMIM1121915511600533
HP:0000238HP:0000238Hydrocephalus1VHL CL E G H7428892Billet Bear syndromeORPHA1617109712687608537
HP:0000238HP:0000238Hydrocephalus1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0000238HP:0000238Hydrocephalus1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000238HP:0000238Hydrocephalus1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0000238HP:0000238Hydrocephalus1WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM11721126600614218
HP:0000238HP:0000238Hydrocephalus1WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
HP:0000238HP:0000238Hydrocephalus1WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122212782165330
HP:0000238HP:0000238Hydrocephalus1ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000238HP:0000238Hydrocephalus1ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM112315412873603073
HP:0000238HP:0000238Hydrocephalus1ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM14225212874300265
HP:0000238HP:0000238Hydrocephalus1ZNHIT3 CL E G H93262836ORPHA119912309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000238HP:0000238Hydrocephalus0AHI1 CL E G H54806220493ORPHA09642221575608894
HP:0000238HP:0000238Hydrocephalus0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA09642221575608894
HP:0000238HP:0000238Hydrocephalus0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM01446330881300776
HP:0000238HP:0000238Hydrocephalus0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM014204560300629
HP:0000238HP:0000238Hydrocephalus0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA01012025419608922
HP:0000238HP:0000238Hydrocephalus0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0333694604695
HP:0000238HP:0000238Hydrocephalus0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA01110520730617612
HP:0000238HP:0000238Hydrocephalus0ARVCF CL E G H421567ORPHA02477728602269
HP:0000238HP:0000238Hydrocephalus0B9D1 CL E G H27077564ORPHA01015824123614144
HP:0000238HP:0000238Hydrocephalus0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA01015824123614144
HP:0000238HP:0000238Hydrocephalus0B9D2 CL E G H80776564ORPHA044028636611951
HP:0000238HP:0000238Hydrocephalus0BRAF CL E G H67354595ORPHA0684901097164757
HP:0000238HP:0000238Hydrocephalus0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA0684901097164757
HP:0000238HP:0000238Hydrocephalus0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0000238HP:0000238Hydrocephalus0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0000238HP:0000238Hydrocephalus0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H575452318ORPHA09658429253612013
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H57545564ORPHA09658429253612013
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA09658429253612013
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM09658429253612013
HP:0000238HP:0000238Hydrocephalus0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA0715224866616690
HP:0000238HP:0000238Hydrocephalus0CEP120 CL E G H153241220493ORPHA098726690613446
HP:0000238HP:0000238Hydrocephalus0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA098726690613446
HP:0000238HP:0000238Hydrocephalus0CEP290 CL E G H801842318ORPHA031088429021610142
HP:0000238HP:0000238Hydrocephalus0CEP290 CL E G H80184564ORPHA031088429021610142
HP:0000238HP:0000238Hydrocephalus0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM031088429021610142
HP:0000238HP:0000238Hydrocephalus0CEP41 CL E G H95681220493ORPHA01123212370610523
HP:0000238HP:0000238Hydrocephalus0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA01123212370610523
HP:0000238HP:0000238Hydrocephalus0CEP55 CL E G H55165564ORPHA02341161610000
HP:0000238HP:0000238Hydrocephalus0CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM0109817966615847
HP:0000238HP:0000238Hydrocephalus0CLCN7 CL E G H118653ORPHA01002682025602727
HP:0000238HP:0000238Hydrocephalus0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM032402063300138
HP:0000238HP:0000238Hydrocephalus0COMT CL E G H1312567ORPHA0155552228116790
HP:0000238HP:0000238Hydrocephalus0COX7B CL E G H13492556ORPHA051642291300885
HP:0000238HP:0000238Hydrocephalus0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA011859425801614571
HP:0000238HP:0000238Hydrocephalus0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM031432309605032
HP:0000238HP:0000238Hydrocephalus0CSPP1 CL E G H79848564ORPHA02725726193611654
HP:0000238HP:0000238Hydrocephalus0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA02725726193611654
HP:0000238HP:0000238Hydrocephalus0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM011642494602618
HP:0000238HP:0000238Hydrocephalus0CTNNB1 CL E G H149954595ORPHA0541802514116806
HP:0000238HP:0000238Hydrocephalus0CTSK CL E G H1513763ORPHA058972536601105
HP:0000238HP:0000238Hydrocephalus0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM094319344617278
HP:0000238HP:0000238Hydrocephalus0DHCR24 CL E G H171835107ORPHA0101372859606418
HP:0000238HP:0000238Hydrocephalus0DMPK CL E G H1760273ORPHA082332933605377
HP:0000238HP:0000238Hydrocephalus0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0000238HP:0000238Hydrocephalus0ERF CL E G H20773267ORPHA019753444611888
HP:0000238HP:0000238Hydrocephalus0ERF CL E G H2077207EchinococcosisORPHA019753444611888
HP:0000238HP:0000238Hydrocephalus0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM02813922140611061
HP:0000238HP:0000238Hydrocephalus0FANCA CL E G H217584ORPHA068917063582607139
HP:0000238HP:0000238Hydrocephalus0FANCB CL E G H218784ORPHA0213523583300515
HP:0000238HP:0000238Hydrocephalus0FANCC CL E G H217684ORPHA0658823584613899
HP:0000238HP:0000238Hydrocephalus0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0000238HP:0000238Hydrocephalus0FANCE CL E G H217884ORPHA0172013586613976
HP:0000238HP:0000238Hydrocephalus0FANCF CL E G H218884ORPHA0162023587613897
HP:0000238HP:0000238Hydrocephalus0FANCG CL E G H218984ORPHA0923253588602956
HP:0000238HP:0000238Hydrocephalus0FANCI CL E G H5521584ORPHA04552125568611360
HP:0000238HP:0000238Hydrocephalus0FANCL CL E G H5512084ORPHA02417620748608111
HP:0000238HP:0000238Hydrocephalus0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0000238HP:0000238Hydrocephalus0FANCM CL E G H5769784ORPHA05369723168609644
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H226387ORPHA01593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H22631555ORPHA01593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263207EchinococcosisORPHA01593363689176943
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H22611860ORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226193274ORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226153271ORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM0774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226115Antisocial personality disorderORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM0774313690134934
HP:0000238HP:0000238Hydrocephalus0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM071993693605830
HP:0000238HP:0000238Hydrocephalus0FIG4 CL E G H98963472MeningococcemiaORPHA07142516873609390
HP:0000238HP:0000238Hydrocephalus0GLI3 CL E G H2737380ORPHA02445374319165240
HP:0000238HP:0000238Hydrocephalus0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0000238HP:0000238Hydrocephalus0GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000238HP:0000238Hydrocephalus0GP1BB CL E G H2812567ORPHA0534044440138720
HP:0000238HP:0000238Hydrocephalus0HCCS CL E G H30522556ORPHA0142014837300056
HP:0000238HP:0000238Hydrocephalus0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM091734867605109
HP:0000238HP:0000238Hydrocephalus0HIRA CL E G H7290567ORPHA053994916600237
HP:0000238HP:0000238Hydrocephalus0HNRNPU CL E G H3192238769ORPHA0683215048602869
HP:0000238HP:0000238Hydrocephalus0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA0212226558610693
HP:0000238HP:0000238Hydrocephalus0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM02726930391607386
HP:0000238HP:0000238Hydrocephalus0INPP5E CL E G H56623220493ORPHA05432521474613037
HP:0000238HP:0000238Hydrocephalus0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA05432521474613037
HP:0000238HP:0000238Hydrocephalus0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA05432521474613037
HP:0000238HP:0000238Hydrocephalus0JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0000238HP:0000238Hydrocephalus0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA0229068616650
HP:0000238HP:0000238Hydrocephalus0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA03115519960610178
HP:0000238HP:0000238Hydrocephalus0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA0452746407190070
HP:0000238HP:0000238Hydrocephalus0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM041756556604407
HP:0000238HP:0000238Hydrocephalus0LIG4 CL E G H3981235ORPHA0403176601601837
HP:0000238HP:0000238Hydrocephalus0LMBR1 CL E G H643272378ORPHA01124013243605522
HP:0000238HP:0000238Hydrocephalus0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0000238HP:0000238Hydrocephalus0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA0232136840176872
HP:0000238HP:0000238Hydrocephalus0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA0353386842601263
HP:0000238HP:0000238Hydrocephalus0MC1R CL E G H4157626ORPHA01093326929155555
HP:0000238HP:0000238Hydrocephalus0MFN2 CL E G H992799947ORPHA023168016877608507
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903220493ORPHA0523347121609883
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903564ORPHA0523347121609883
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA0523347121609883
HP:0000238HP:0000238Hydrocephalus0NDUFB11 CL E G H545392556ORPHA0616320372300403
HP:0000238HP:0000238Hydrocephalus0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000238HP:0000238Hydrocephalus0NPHP1 CL E G H4867220497ORPHA0794037905607100
HP:0000238HP:0000238Hydrocephalus0NRAS CL E G H4893626ORPHA0141817989164790
HP:0000238HP:0000238Hydrocephalus0NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM0141817989164790
HP:0000238HP:0000238Hydrocephalus0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM01422012766602952
HP:0000238HP:0000238Hydrocephalus0NSUN2 CL E G H54888235ORPHA0726025994610916
HP:0000238HP:0000238Hydrocephalus0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0000238HP:0000238Hydrocephalus0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA088723352607532
HP:0000238HP:0000238Hydrocephalus0PIEZO2 CL E G H638952461ORPHA03232926270613629
HP:0000238HP:0000238Hydrocephalus0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM01611226031610274
HP:0000238HP:0000238Hydrocephalus0PLG CL E G H5340722ORPHA078859071173350
HP:0000238HP:0000238Hydrocephalus0PLG CL E G H534097231ORPHA078859071173350
HP:0000238HP:0000238Hydrocephalus0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM0814826267615247
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H5727377ORPHA052920319585601309
HP:0000238HP:0000238Hydrocephalus0PTCH2 CL E G H8643377ORPHA0112819586603673
HP:0000238HP:0000238Hydrocephalus0PTDSS1 CL E G H97912658ORPHA07609587612792
HP:0000238HP:0000238Hydrocephalus0RAD51 CL E G H588884ORPHA016369817179617
HP:0000238HP:0000238Hydrocephalus0RAD51C CL E G H588984ORPHA013111309820602774
HP:0000238HP:0000238Hydrocephalus0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0000238HP:0000238Hydrocephalus0ROGDI CL E G H796411946ORPHA01324529478614574
HP:0000238HP:0000238Hydrocephalus0RPGRIP1 CL E G H57096564ORPHA014936113436605446
HP:0000238HP:0000238Hydrocephalus0RPGRIP1L CL E G H23322220497ORPHA05143229168610937
HP:0000238HP:0000238Hydrocephalus0RPGRIP1L CL E G H23322564ORPHA05143229168610937
HP:0000238HP:0000238Hydrocephalus0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA05143229168610937
HP:0000238HP:0000238Hydrocephalus0RREB1 CL E G H6239567ORPHA01217110449602209
HP:0000238HP:0000238Hydrocephalus0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM027881348610456
HP:0000238HP:0000238Hydrocephalus0SEC24C CL E G H9632567ORPHA02410705607185
HP:0000238HP:0000238Hydrocephalus0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0000238HP:0000238Hydrocephalus0SLC13A5 CL E G H2841111946ORPHA02131223089608305
HP:0000238HP:0000238Hydrocephalus0SLC29A3 CL E G H55315168569ORPHA02619023096612373
HP:0000238HP:0000238Hydrocephalus0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0000238HP:0000238Hydrocephalus0SMOC1 CL E G H640931106ORPHA0155420318608488
HP:0000238HP:0000238Hydrocephalus0SOX2 CL E G H665777298ORPHA010510511195184429
HP:0000238HP:0000238Hydrocephalus0SUFU CL E G H51684377ORPHA04753316466607035
HP:0000238HP:0000238Hydrocephalus0TBX1 CL E G H6899567ORPHA08255311592602054
HP:0000238HP:0000238Hydrocephalus0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA0611626113609863
HP:0000238HP:0000238Hydrocephalus0TCTN2 CL E G H79867564ORPHA01520325774613846
HP:0000238HP:0000238Hydrocephalus0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA01520325774613846
HP:0000238HP:0000238Hydrocephalus0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM07954111772190181
HP:0000238HP:0000238Hydrocephalus0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0000238HP:0000238Hydrocephalus0TMEM107 CL E G H84314564ORPHA038128128616183
HP:0000238HP:0000238Hydrocephalus0TMEM138 CL E G H515242318ORPHA096726944614459
HP:0000238HP:0000238Hydrocephalus0TMEM216 CL E G H51259564ORPHA0810925018613277
HP:0000238HP:0000238Hydrocephalus0TMEM216 CL E G H512592318ORPHA0810925018613277
HP:0000238HP:0000238Hydrocephalus0TMEM231 CL E G H79583564ORPHA01915037234614949
HP:0000238HP:0000238Hydrocephalus0TMEM231 CL E G H795832318ORPHA01915037234614949
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H650622318ORPHA01122114432614423
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H65062220497ORPHA01122114432614423
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA01122114432614423
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H91147564ORPHA017431628396609884
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA017431628396609884
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA017431628396609884
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM017431628396609884
HP:0000238HP:0000238Hydrocephalus0TREM2 CL E G H542092770ORPHA0565917761605086
HP:0000238HP:0000238Hydrocephalus0TRPV4 CL E G H593412635ORPHA08253918083605427
HP:0000238HP:0000238Hydrocephalus0TSC1 CL E G H7248538ORPHA0404235112362605284
HP:0000238HP:0000238Hydrocephalus0TSC2 CL E G H7249538ORPHA01269558112363191092
HP:0000238HP:0000238Hydrocephalus0TYROBP CL E G H73052770ORPHA0144212449604142
HP:0000238HP:0000238Hydrocephalus0UBE2T CL E G H2908984ORPHA071825009610538
HP:0000238HP:0000238Hydrocephalus0UFD1 CL E G H7353567ORPHA0436812520601754
HP:0000238HP:0000238Hydrocephalus0VAC14 CL E G H556973472MeningococcemiaORPHA077725507604632
HP:0000238HP:0000238Hydrocephalus0WDPCP CL E G H51057564ORPHA0817628027613580
HP:0000238HP:0000238Hydrocephalus0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000238HP:0000238Hydrocephalus0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0000238HP:0000238Hydrocephalus0ZNF423 CL E G H230902318ORPHA0925216762604557
HP:0000238HP:0000238Hydrocephalus1AHI1 CL E G H54806220493ORPHA09642221575608894
HP:0000238HP:0000238Hydrocephalus1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA09642221575608894
HP:0000238HP:0000238Hydrocephalus1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM01446330881300776
HP:0000238HP:0000238Hydrocephalus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM014204560300629
HP:0000238HP:0000238Hydrocephalus1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA01012025419608922
HP:0000238HP:0000238Hydrocephalus1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0333694604695
HP:0000238HP:0000238Hydrocephalus1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA01110520730617612
HP:0000238HP:0000238Hydrocephalus1ARVCF CL E G H421567ORPHA02477728602269
HP:0000238HP:0000238Hydrocephalus1B9D1 CL E G H27077564ORPHA01015824123614144
HP:0000238HP:0000238Hydrocephalus1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA01015824123614144
HP:0000238HP:0000238Hydrocephalus1B9D2 CL E G H80776564ORPHA044028636611951
HP:0000238HP:0000238Hydrocephalus1BRAF CL E G H67354595ORPHA0684901097164757
HP:0000238HP:0000238Hydrocephalus1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA0684901097164757
HP:0000238HP:0000238Hydrocephalus1BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0000238HP:0000238Hydrocephalus1BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0000238HP:0000238Hydrocephalus1BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0000238HP:0000238Hydrocephalus1CC2D2A CL E G H575452318ORPHA09658429253612013
HP:0000238HP:0000238Hydrocephalus1CC2D2A CL E G H57545564ORPHA09658429253612013
HP:0000238HP:0000238Hydrocephalus1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA09658429253612013
HP:0000238HP:0000238Hydrocephalus1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM09658429253612013
HP:0000238HP:0000238Hydrocephalus1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA0715224866616690
HP:0000238HP:0000238Hydrocephalus1CEP120 CL E G H153241220493ORPHA098726690613446
HP:0000238HP:0000238Hydrocephalus1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA098726690613446
HP:0000238HP:0000238Hydrocephalus1CEP290 CL E G H801842318ORPHA031088429021610142
HP:0000238HP:0000238Hydrocephalus1CEP290 CL E G H80184564ORPHA031088429021610142
HP:0000238HP:0000238Hydrocephalus1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM031088429021610142
HP:0000238HP:0000238Hydrocephalus1CEP41 CL E G H95681220493ORPHA01123212370610523
HP:0000238HP:0000238Hydrocephalus1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA01123212370610523
HP:0000238HP:0000238Hydrocephalus1CEP55 CL E G H55165564ORPHA02341161610000
HP:0000238HP:0000238Hydrocephalus1CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM0109817966615847
HP:0000238HP:0000238Hydrocephalus1CLCN7 CL E G H118653ORPHA01002682025602727
HP:0000238HP:0000238Hydrocephalus1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM032402063300138
HP:0000238HP:0000238Hydrocephalus1COMT CL E G H1312567ORPHA0155552228116790
HP:0000238HP:0000238Hydrocephalus1COX7B CL E G H13492556ORPHA051642291300885
HP:0000238HP:0000238Hydrocephalus1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA011859425801614571
HP:0000238HP:0000238Hydrocephalus1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM031432309605032
HP:0000238HP:0000238Hydrocephalus1CSPP1 CL E G H79848564ORPHA02725726193611654
HP:0000238HP:0000238Hydrocephalus1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA02725726193611654
HP:0000238HP:0000238Hydrocephalus1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM011642494602618
HP:0000238HP:0000238Hydrocephalus1CTNNB1 CL E G H149954595ORPHA0541802514116806
HP:0000238HP:0000238Hydrocephalus1CTSK CL E G H1513763ORPHA058972536601105
HP:0000238HP:0000238Hydrocephalus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM094319344617278
HP:0000238HP:0000238Hydrocephalus1DHCR24 CL E G H171835107ORPHA0101372859606418
HP:0000238HP:0000238Hydrocephalus1DMPK CL E G H1760273ORPHA082332933605377
HP:0000238HP:0000238Hydrocephalus1ERCC4 CL E G H207284ORPHA0723483436133520
HP:0000238HP:0000238Hydrocephalus1ERF CL E G H20773267ORPHA019753444611888
HP:0000238HP:0000238Hydrocephalus1ERF CL E G H2077207EchinococcosisORPHA019753444611888
HP:0000238HP:0000238Hydrocephalus1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM02813922140611061
HP:0000238HP:0000238Hydrocephalus1FANCA CL E G H217584ORPHA068917063582607139
HP:0000238HP:0000238Hydrocephalus1FANCB CL E G H218784ORPHA0213523583300515
HP:0000238HP:0000238Hydrocephalus1FANCC CL E G H217684ORPHA0658823584613899
HP:0000238HP:0000238Hydrocephalus1FANCD2 CL E G H217784ORPHA0644293585613984
HP:0000238HP:0000238Hydrocephalus1FANCE CL E G H217884ORPHA0172013586613976
HP:0000238HP:0000238Hydrocephalus1FANCF CL E G H218884ORPHA0162023587613897
HP:0000238HP:0000238Hydrocephalus1FANCG CL E G H218984ORPHA0923253588602956
HP:0000238HP:0000238Hydrocephalus1FANCI CL E G H5521584ORPHA04552125568611360
HP:0000238HP:0000238Hydrocephalus1FANCL CL E G H5512084ORPHA02417620748608111
HP:0000238HP:0000238Hydrocephalus1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0000238HP:0000238Hydrocephalus1FANCM CL E G H5769784ORPHA05369723168609644
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H226387ORPHA01593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H22631555ORPHA01593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR2 CL E G H2263207EchinococcosisORPHA01593363689176943
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H226193274ORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H226153271ORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H22611860ORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM0774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H226115Antisocial personality disorderORPHA0774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM0774313690134934
HP:0000238HP:0000238Hydrocephalus1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM071993693605830
HP:0000238HP:0000238Hydrocephalus1FIG4 CL E G H98963472MeningococcemiaORPHA07142516873609390
HP:0000238HP:0000238Hydrocephalus1GLI3 CL E G H2737380ORPHA02445374319165240
HP:0000238HP:0000238Hydrocephalus1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0000238HP:0000238Hydrocephalus1GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000238HP:0000238Hydrocephalus1GP1BB CL E G H2812567ORPHA0534044440138720
HP:0000238HP:0000238Hydrocephalus1HCCS CL E G H30522556ORPHA0142014837300056
HP:0000238HP:0000238Hydrocephalus1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM091734867605109
HP:0000238HP:0000238Hydrocephalus1HIRA CL E G H7290567ORPHA053994916600237
HP:0000238HP:0000238Hydrocephalus1HNRNPU CL E G H3192238769ORPHA0683215048602869
HP:0000238HP:0000238Hydrocephalus1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA0212226558610693
HP:0000238HP:0000238Hydrocephalus1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM02726930391607386
HP:0000238HP:0000238Hydrocephalus1INPP5E CL E G H56623220493ORPHA05432521474613037
HP:0000238HP:0000238Hydrocephalus1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA05432521474613037
HP:0000238HP:0000238Hydrocephalus1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA05432521474613037
HP:0000238HP:0000238Hydrocephalus1JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0000238HP:0000238Hydrocephalus1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA0229068616650
HP:0000238HP:0000238Hydrocephalus1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA03115519960610178
HP:0000238HP:0000238Hydrocephalus1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA0452746407190070
HP:0000238HP:0000238Hydrocephalus1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM041756556604407
HP:0000238HP:0000238Hydrocephalus1LIG4 CL E G H3981235ORPHA0403176601601837
HP:0000238HP:0000238Hydrocephalus1LMBR1 CL E G H643272378ORPHA01124013243605522
HP:0000238HP:0000238Hydrocephalus1MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0000238HP:0000238Hydrocephalus1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA0232136840176872
HP:0000238HP:0000238Hydrocephalus1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA0353386842601263
HP:0000238HP:0000238Hydrocephalus1MC1R CL E G H4157626ORPHA01093326929155555
HP:0000238HP:0000238Hydrocephalus1MFN2 CL E G H992799947ORPHA023168016877608507
HP:0000238HP:0000238Hydrocephalus1MKS1 CL E G H54903220493ORPHA0523347121609883
HP:0000238HP:0000238Hydrocephalus1MKS1 CL E G H54903564ORPHA0523347121609883
HP:0000238HP:0000238Hydrocephalus1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA0523347121609883
HP:0000238HP:0000238Hydrocephalus1NDUFB11 CL E G H545392556ORPHA0616320372300403
HP:0000238HP:0000238Hydrocephalus1NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000238HP:0000238Hydrocephalus1NPHP1 CL E G H4867220497ORPHA0794037905607100
HP:0000238HP:0000238Hydrocephalus1NRAS CL E G H4893626ORPHA0141817989164790
HP:0000238HP:0000238Hydrocephalus1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM0141817989164790
HP:0000238HP:0000238Hydrocephalus1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM01422012766602952
HP:0000238HP:0000238Hydrocephalus1NSUN2 CL E G H54888235ORPHA0726025994610916
HP:0000238HP:0000238Hydrocephalus1PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0000238HP:0000238Hydrocephalus1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA088723352607532
HP:0000238HP:0000238Hydrocephalus1PIEZO2 CL E G H638952461ORPHA03232926270613629
HP:0000238HP:0000238Hydrocephalus1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM01611226031610274
HP:0000238HP:0000238Hydrocephalus1PLG CL E G H534097231ORPHA078859071173350
HP:0000238HP:0000238Hydrocephalus1PLG CL E G H5340722ORPHA078859071173350
HP:0000238HP:0000238Hydrocephalus1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM0814826267615247
HP:0000238HP:0000238Hydrocephalus1PTCH1 CL E G H5727377ORPHA052920319585601309
HP:0000238HP:0000238Hydrocephalus1PTCH2 CL E G H8643377ORPHA0112819586603673
HP:0000238HP:0000238Hydrocephalus1PTDSS1 CL E G H97912658ORPHA07609587612792
HP:0000238HP:0000238Hydrocephalus1RAD51 CL E G H588884ORPHA016369817179617
HP:0000238HP:0000238Hydrocephalus1RAD51C CL E G H588984ORPHA013111309820602774
HP:0000238HP:0000238Hydrocephalus1RFWD3 CL E G H5515984ORPHA024925539614151
HP:0000238HP:0000238Hydrocephalus1ROGDI CL E G H796411946ORPHA01324529478614574
HP:0000238HP:0000238Hydrocephalus1RPGRIP1 CL E G H57096564ORPHA014936113436605446
HP:0000238HP:0000238Hydrocephalus1RPGRIP1L CL E G H23322220497ORPHA05143229168610937
HP:0000238HP:0000238Hydrocephalus1RPGRIP1L CL E G H23322564ORPHA05143229168610937
HP:0000238HP:0000238Hydrocephalus1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA05143229168610937
HP:0000238HP:0000238Hydrocephalus1RREB1 CL E G H6239567ORPHA01217110449602209
HP:0000238HP:0000238Hydrocephalus1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM027881348610456
HP:0000238HP:0000238Hydrocephalus1SEC24C CL E G H9632567ORPHA02410705607185
HP:0000238HP:0000238Hydrocephalus1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0000238HP:0000238Hydrocephalus1SLC13A5 CL E G H2841111946ORPHA02131223089608305
HP:0000238HP:0000238Hydrocephalus1SLC29A3 CL E G H55315168569ORPHA02619023096612373
HP:0000238HP:0000238Hydrocephalus1SLX4 CL E G H8446484ORPHA07281823845613278
HP:0000238HP:0000238Hydrocephalus1SMOC1 CL E G H640931106ORPHA0155420318608488
HP:0000238HP:0000238Hydrocephalus1SOX2 CL E G H665777298ORPHA010510511195184429
HP:0000238HP:0000238Hydrocephalus1SUFU CL E G H51684377ORPHA04753316466607035
HP:0000238HP:0000238Hydrocephalus1TBX1 CL E G H6899567ORPHA08255311592602054
HP:0000238HP:0000238Hydrocephalus1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA0611626113609863
HP:0000238HP:0000238Hydrocephalus1TCTN2 CL E G H79867564ORPHA01520325774613846
HP:0000238HP:0000238Hydrocephalus1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA01520325774613846
HP:0000238HP:0000238Hydrocephalus1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM07954111772190181
HP:0000238HP:0000238Hydrocephalus1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0000238HP:0000238Hydrocephalus1TMEM107 CL E G H84314564ORPHA038128128616183
HP:0000238HP:0000238Hydrocephalus1TMEM138 CL E G H515242318ORPHA096726944614459
HP:0000238HP:0000238Hydrocephalus1TMEM216 CL E G H51259564ORPHA0810925018613277
HP:0000238HP:0000238Hydrocephalus1TMEM216 CL E G H512592318ORPHA0810925018613277
HP:0000238HP:0000238Hydrocephalus1TMEM231 CL E G H795832318ORPHA01915037234614949
HP:0000238HP:0000238Hydrocephalus1TMEM231 CL E G H79583564ORPHA01915037234614949
HP:0000238HP:0000238Hydrocephalus1TMEM237 CL E G H65062220497ORPHA01122114432614423
HP:0000238HP:0000238Hydrocephalus1TMEM237 CL E G H650622318ORPHA01122114432614423
HP:0000238HP:0000238Hydrocephalus1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA01122114432614423
HP:0000238HP:0000238Hydrocephalus1TMEM67 CL E G H91147564ORPHA017431628396609884
HP:0000238HP:0000238Hydrocephalus1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA017431628396609884
HP:0000238HP:0000238Hydrocephalus1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA017431628396609884
HP:0000238HP:0000238Hydrocephalus1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM017431628396609884
HP:0000238