Phenotype #0000346428

Individual ID 00457978
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite XLID114
Inheritance Familial, X-linked
Phenotype details learning problems, borderline intellectual disability (IQ low normal); no dysmorphic features; ataxia, vertigo; lazy eye at birth, strabismus, hyperacute; no hearing impairment; speech disturbance; CT PET slightly decreased cerebellar uptake
Age/Examination 28y (28 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 2024-11-23 20:27:43 +01:00 (CET)
Date last edited N/A

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