Phenotype #0000356476

Individual ID 00471669
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; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −3.0 SD, weight −2.80 SD, OFC −0.38 SD; no hepatomegaly; umblical hernia; joint hyperextensibility
Inheritance Familial, autosomal recessive
Age/Examination 1y9m (1 year, 9 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.