Phenotype #0000356459

Individual ID	00471652
Associated disease	NDD
Diagnosis/Initial	GAPO syndrome
Diagnosis/Definite	GAPOS
Phenotype details	see paper; ..., height SD-4, OFC SD+1; delayed bone age; no plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), no scalp pigmented with scars and papules, sparse eyebrows and eyelashes; nystagmus, no esotropia, bilateral engorged tortuous retinal vessels, bilateral optic atrophy; no umbilical hernia; hyperextensible joints; no mild webbing between fingers; no facial nerve palsy
Inheritance	Familial, autosomal recessive
Age/Examination	4y (4 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