Phenotype #0000356485

Individual ID 00471678
Associated disease NDD
Diagnosis/Initial GAPO syndrome
Diagnosis/Definite GAPOS
Phenotype details see paper; ..., 15y-retained deciduous teeth; dysmorphic facies, thick lips, hypertelorism, mild puffiness eyelids, depressed nasal bridge, hyperextensibility joints, broad forehead, frontal bossing, sparse eyebrows, sparse hair, lose her hair in androgenic-like manner; optic atrophy
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 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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