Phenotype #0000238252

Individual ID 00313953
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite WITKOS
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., intellectual disability (TIQ <70); OFC percentile P0.6–P2; height percentile P2; MRI brain cortical dysgenesis, corpus callosum dysgenesis, white matter abnormalities; autism spectrum disorder; no epilepsy; hearing loss; typical facial dysmorphic features; no ectodermal symptoms
Age/Examination 29y (29 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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