Phenotype #0000044510

Individual ID 00057859
Associated disease MEB
Phenotype details all motor milestones delayed (axial hypotonia/increased limb tone due to spasticity); never acquired independent walking; 6y-able to take steps with hands held, using standing device; communication skills mostly confined to sign language, vision severely impaired (marked myopia complicated by bilateral partial retinal detachment); brain MRI cerebellar cysts, thin corpus callosum, diffusely abnormal white matter signal on T2-weighted images, cortical dysplasia (frontoparietal polymicrogyria); severe hyptonia; CPK: 1132 U/L
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 4m
Phenotype/Onset developmental delay, large head circumference
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 2013-03-07 22:36:27 +01:00 (CET)
Date last edited N/A

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