Global Variome shared LOVD

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Phenotype #0000356456 Individual ID 00471649 Associated disease NDD Diagnosis/Initial GAPO syndrome Diagnosis/Definite GAPOS Phenotype details see paper; ..., height SD-4, OFC SD-2; normal bone age; plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, no 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; megalocornea, no nystagmus, esotropia, shallow anterior chamber, bilateral engorged tortuous retinal vessels, bilateral optic atrophy, abnormal visual-evoked potential; umbilical hernia; no hyperextensible joints; no mild webbing between fingers; no facial nerve palsy Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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