Phenotype #0000356475

Individual ID 00471668
Associated disease NDD
Diagnosis/Initial GAPO syndrome
Diagnosis/Definite GAPOS
Phenotype details see paper; ..., alopecia, sparse hair; no 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; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; unilateral glaucoma; no keratopathy; height −4.66 SD, weight −2.78 SD, OFC −3.04 SD; no hepatomegaly; umblical hernia; joint hyperextensibility
Inheritance Familial, autosomal recessive
Age/Examination 2y4m (2 years, 4 months)
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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