Phenotype #0000229862

Individual ID 00302780
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details severe intellectual disability; no speech; not walking; epilepsy; no autistic features; no microcephaly; no macrocephaly; MRI brain myelination delay, thin corpus callosum, mild ventriculomegaly; hypotonic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; mild sensorineural hearling loss on left
Age/Examination 14y (14 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 2020-06-01 10:33:11 +02:00 (CEST)
Date last edited N/A

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