Phenotype #0000356486

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00471679
Associated disease	NDD
Diagnosis/Initial	GAPO syndrome
Diagnosis/Definite	GAPOS
Phenotype details	see paper; ..., 8y-retained deciduous teeth; dysmorphic facies, mild puffiness eyelids, depressed nasal bridge, hyperextensibility joints, broad forehead, frontal bossing, sparse eyebrows, sparse hair; no optic atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-12-29 16:31:13 +01:00 (CET)
Date last edited	N/A

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