Phenotype #0000349747

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00462247
Associated disease	BPS
Phenotype details	see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits
Diagnosis/Initial	Bartsocas-Papas syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BPS2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-06 16:00:06 +01:00 (CET)
Date last edited	N/A

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