Phenotype #0000003000

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00004282
Associated disease	GCPS
Phenotype details	no postaxial polydactyly; feet bilateral preaxial polydactyly; syndactyly; macrocephaly; widely spaced eyes; developmental delay; neurofibromatosis type 1
Diagnosis/Initial	Greig cephalopolysyndactyly syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	GCPS
Age/Examination	00y02m (2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Tania Attie-Bitach
Database submission license	No license selected
Created by	Tania Attie-Bitach
Date created	2014-01-20 10:14:46 +01:00 (CET)
Date last edited	2021-05-24 10:16:24 +02:00 (CEST)

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