Global Variome shared LOVD

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Phenotype #0000356457 Individual ID 00471650 Associated disease NDD Diagnosis/Initial GAPO syndrome Diagnosis/Definite GAPOS Phenotype details see paper; ..., height SD-2, OFC SD-2; delayed bone age; 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; megalocornea, nystagmus, esotropia, no shallow anterior chamber, no bilateral engorged tortuous retinal vessels, bilateral optic atrophy, abnormal visual-evoked potential; umbilical hernia ; hyperextensible joints; no mild webbing between fingers; facial nerve palsy; MRI brain bilateral high signal deep white matter at deep parietal/occipital region and around optic nerve Inheritance Familial, autosomal recessive Age/Examination 10y (10 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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