Phenotype #0000238256

Individual ID 00313957
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite WITKOS
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., intellectual disability (TIQ <70); OFC percentile P16; height percentile <P0.6; MRI brain cortical dysgenesis, white matter abnormalities, ventricle dilatation; autism spectrum disorder; epilepsy; hypermobile joints; hearing loss; typical facial dysmorphic features; thin hair, brittle nails, teeth anomalies
Age/Examination 7y (7 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 2020-10-09 15:12:14 +02:00 (CEST)
Date last edited N/A

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