Phenotype #0000332846

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00443512
Associated disease	MKS
Diagnosis/Initial	Meckel syndrome
Diagnosis/Definite	MKS5
Phenotype details	see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs, lower limbs), cleft lip, cleft palate, microphthalmia, long bones bowing
Inheritance	Familial, autosomal recessive
Age/Examination	<00y00m00d (before )
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-28 15:59:46 +01:00 (CET)
Date last edited	N/A

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