Disease #00876 (JBTS14 (Joubert syndrome, type 14 (JBTS-14)), OMIM:614424)

Official abbreviation JBTS14
Name Joubert syndrome, type 14 (JBTS-14)
OMIM ID 614424
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease 19
Associated with 1 gene TMEM237
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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00117485 - PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 encephalocele;cystic kidney; TMEM237 TMEM237 1 1 Lijia Huang
00117486 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - - - - JBTS14 molar tooth sign; posterior fossa abnormality; hydrocephalus; cystic kidney; nystagmus; strabismus; optic atrophy TMEM237 TMEM237 1 1 Lijia Huang
00117487 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 molar tooth sign; posterior fossa abnormality; hydrocephalus; encephalocele; cystic kidney; Nystagmus; strabismus TMEM237 TMEM237 1 1 Lijia Huang
00117488 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 cerebellar vermis hypoplasia; nystagmus; strabismus TMEM237 TMEM237 1 1 Lijia Huang
00117489 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 cerebellar vermis hypoplasia; nystagmus; strabismus TMEM237 TMEM237 1 1 Lijia Huang
00117490 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased M yes Canada Hutterite - - - - JBTS14 molar tooth sign; nystagmus; strabismus; coloboma;intracranial bleed TMEM237 TMEM237 1 1 Lijia Huang
00117491 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 encephalocele; hydrocephalus; cystic kidney; cleft palate TMEM237 TMEM237 1 1 Lijia Huang
00117492 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 hydrocephalus; cystic kidney;postaxial polydactyly TMEM237 TMEM237 1 1 Lijia Huang
00117493 - PubMed: Boycott 2007, PubMed: Huang 2011 - F yes Canada Hutterite - - - - JBTS14 molar tooth sign; encephalocele; cystic kidney; nystagmus; strabismus; coloboma; ventricular septal defect TMEM237 TMEM237 1 1 Lijia Huang
00117494 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 encephalocele; hydrocephalus; Dandy-Walker variant; cystic kidney; nystagmus; strabismus TMEM237 TMEM237 1 1 Lijia Huang
00117495 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - - - - JBTS14 molar tooth sign; posterior fossa abnormality; cystic kidney; nystagmus; strabismus TMEM237 TMEM237 1 1 Lijia Huang
00117496 - PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney TMEM237 TMEM237 1 1 Lijia Huang
00117497 - PubMed: Huang 2011 deceased F yes Canada Hutterite - - - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney; nystagmus TMEM237 TMEM237 1 1 Lijia Huang
00117498 - PubMed: Huang 2011 - M yes Canada Hutterite - - - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; cystic kidney; nystagmus TMEM237 TMEM237 1 1 Lijia Huang
00117499 - PubMed: Huang 2011 - F no (United States) Hispanic;European - - - - JBTS14 molar tooth sign; hydrocephalus; posterior fossa abnormality; cortical visual impairment; cystic kidney; nystagmus; strabismus TMEM237 TMEM237 2 1 Lijia Huang
00117500 - PubMed: Janecke 2004, PubMed: Huang 2011 deceased F yes Austria - - - - - JBTS14 cerebellar vermis aplasia; cystic kidney; morning glory disc anomaly; TMEM237 TMEM237 1 1 Lijia Huang
00117501 - PubMed: Janecke 2004, PubMed: Huang 2011 fetus died at 22 weeks - yes Austria - - - - - JBTS14 hydrocephalus; cerebellar vermis aplasia; corpus callosum hypoplasia; meningocele; cystic kidney; morning glory disc anomaly TMEM237 TMEM237 1 1 Lijia Huang
00117502 - PubMed: Janecke 2004, PubMed: Huang 2011 - F yes Austria - - - - - JBTS14 cerebellar vermis aplasia; brain stem hypoplasia; cystic kidney; nystagmus; morning glory disc anomaly TMEM237 TMEM237 1 1 Lijia Huang
00117504 - PubMed: Huang 2011 - M yes Jordan - - - - - JBTS14 meningomyelocele; cortical visual impairment TMEM237 TMEM237 1 1 Lijia Huang
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