Phenotype #0000309920

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00418584
Associated disease	MKKS
Phenotype details	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
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	McKusick-Kaufman syndrome
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-30 13:00:12 +02:00 (CEST)
Date last edited	N/A