Disease #01028 (MKKS (McKusick-Kaufman syndrome (MKKS)), OMIM:236700)

Official abbreviation MKKS
Name McKusick-Kaufman syndrome (MKKS)
OMIM ID 236700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene MKKS
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

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00418583 ? PubMed: Stone 2000 whole family described elsewhere (Stone et al.. 1998) - likely United States Amish - - - - MKKS - MKKS MKKS 2 1 LOVD
00418584 ? PubMed: Stone 2000 - F - United States Northern European - - - - MKKS hydrometrocolpos surgically repaired on the first day of life; postaxial polydactyly of one hand and both feet; an atrioventricular septal defect without significant shunting diagnosed originally by fetal echocardiography;other abnormalities noted at birth: hypoplastic clitoris with prominent labia majora, cystic dysplasia of the kidneys with mild hydronephrosis and small ears MKKS MKKS 2 1 LOVD
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