Phenotype #0000203964

Individual ID 00266187
Associated disease NDD
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details short stature (148cm), head circumference 53cm (50th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour aggressive, ADHD and hyperactivity; MRI normal; unsteady gait
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2019-10-16 03:19:26 +02:00 (CEST)
Date last edited N/A

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