Global Variome shared LOVD

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Phenotype #0000356477 Individual ID 00471670 Associated disease NDD Diagnosis/Initial GAPO syndrome Diagnosis/Definite GAPOS Phenotype details see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; papilledema; bilateral glaucoma; keratopathy; height −5.3 SD, weight −1 SD, OFC −2 SD; no hepatomegaly; umblical hernia; joint hyperextensibility Inheritance Familial, autosomal recessive Age/Examination 3y8m (3 years, 8 months) 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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