Phenotype #0000356462

Individual ID 00471655
Associated disease NDD
Diagnosis/Initial GAPO syndrome
Diagnosis/Definite GAPOS
Phenotype details see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; optic atrophy; no glaucoma; myelinated nerve fiber layer; no keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia ; breast hypoplasia, nipple hypoplasia; umblical hernia; no hepatomegaly
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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