Disease #00958 (MKS2 (Meckel syndrome, type 2), OMIM:603194)

Official abbreviation MKS2
Name Meckel syndrome, type 2
OMIM ID 603194
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 27
Phenotype entries for this disease 2
Associated with 1 gene TMEM216
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-09-09 19:41:03 +02:00 (CEST)


Individuals

27 entries on 1 page. Showing entries 1 - 27.
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00204382 - - Fetus, MKS and JSRDs coexisted in the same sibship M - - Turkish - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204383 - - Fetus, MKS and JSRDs coexisted in the same sibship M - - Turkish - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204450 - - Fetus ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204451 - - Fetus ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204452 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204453 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204454 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204455 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204456 - - - M - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204457 - - - M - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204458 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204459 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204460 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204461 - - - ? - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204462 - - - M - - British - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204463 - - - M - - British - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204464 - - - M - - British - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204465 - - - M - - British - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204466 - PubMed: Roume 1998 - M - - Tunisian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204467 - PubMed: Roume 1998 - M - - Tunisian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204468 - PubMed: Roume 1998 - F - - Tunisian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204469 - PubMed: Roume 1998 - F - - Tunisian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204470 - - - M - - Tunisian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204471 - - - M - - Tunisian - - - - MKS2 - TMEM216 TMEM216 1 1 LOVD
00204474 - - 3 Palestinian families (6 patients) - - - Palestinian - - - - MKS2 - TMEM216 TMEM216 1 3 Anne Polvi
00204475 - - 1 British family (2 patients) - - United Kingdom (Great Britain) British - - - - MKS2 - TMEM216 TMEM216 1 1 Anne Polvi
00204476 - - 2 Tunisian families (3 patients) - - Tunisia Tunisian - - - - MKS2 - - - - 3 Anne Polvi
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