Phenotype #0000356465

Individual ID	00471658
Associated disease	NDD
Diagnosis/Initial	GAPO syndrome
Diagnosis/Definite	GAPOS
Phenotype details	see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; no optic atrophy; glaucoma; keratopathy; depressed nasal bridge, no short nose, no anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia
Inheritance	Familial, autosomal recessive
Age/Examination	37y (37 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

Global Variome shared LOVD