Global Variome shared LOVD

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Phenotype #0000338985 Individual ID 00449838 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite XLID93 Inheritance Familial, X-linked recessive Phenotype details see paper; ..., birth weight 3-97th, height 3-97th, walk-18m; weight normal, height 50th, OFC 90-95th; speech delay; intellectual disability; shy and reserved with strangers; high forehead, deep-set eyes, broad and thick eyebrows, synophrysis, bear shape nose, high palate, prominent chin, dysplastic ears; large hands/feet; no muscular hypotonia; cubitus valgus Age/Examination 25y (25 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 2024-05-16 17:11:05 +02:00 (CEST) Date last edited N/A

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