Phenotype #0000338986

Individual ID 00449839
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-12m; mild overweight (BMI 26.1), height 50-90th, OFC 99th; speech delay; intellectual disability; no behavioral disturbance; high forehead, deep-set eyes, broad and thick eyebrows, synophrysis, high nasal bridge, bear shape nose, high palate, anteverted prominent ears; large hands/feet, wide tips fingers/toes; no muscular hypotonia; cubitus valgus
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2024-05-16 17:11:05 +02:00 (CEST)
Date last edited N/A

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