Phenotype #0000356484

Individual ID 00471677
Associated disease NDD
Diagnosis/Initial GAPO syndrome
Diagnosis/Definite GAPOS
Phenotype details see paper; ..., typical facies;failure to thrive, short stature;;sparse dentition; alopecia or sparse hair growth; optic atrophy; no umbilical hernia; no glaucoma; preserved intellect/development; no prominent scalp veins; no progeroid features; no delayed bone age; excessive laxity skin; short upper limbs, short lower limbs; no reduced length all long bones; no RX bone dysplasia; no joint hyperextensibility; no increased corneal diameters; no keratopathy; no strabismus
Inheritance Familial, autosomal recessive
Age/Examination 33y (33 years)
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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