Phenotype #0000356469

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00471662
Associated disease	NDD
Diagnosis/Initial	GAPO syndrome
Diagnosis/Definite	GAPOS
Phenotype details	see paper; ..., ttypical facies, saddle nose, thick eyelids, thick lips, dwarfism, hypotrichosis, strabismus, shallow orbits, protruding auricles, prominent supraorbital ridges, high forehead, bossed forehead, small face with dysplasia
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 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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