Global Variome shared LOVD

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Phenotype #0000356488 Individual ID 00471681 Associated disease GAPOS Phenotype details see paper; ..., birth C-section, uneventful pregnancy, weight 3650g (50th–85th), length 52cm (85th–97th), OFC 35cm (85th), disproportionate short stature (short upper/lower limbs), facial dysmorphic (macrocephaly, coarse face, saddle nose, wide nasal bridge); delayed closure anterior fontanelle, alopecia, pseudoanodontia; 4y-short stature, excessive hair growth on back, disproportion proximal location extremities, hypotonic joints, alopecia more intense, teeth eruption delay, oligodontia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite GAPOS Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - 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 17:20:55 +01:00 (CET) Date last edited N/A

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