Phenotype #0000157651

Individual ID 00209045
Associated disease MR;ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT-19
Phenotype details profound ID, spasticity, axial hypotonia, dystonia, seizures screaming spells; EEG unprovoked and photic-provoked epileptiform abnormalities; MRI-brain pontine hypoplasia
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 2018-12-22 17:49:53 +01:00 (CET)
Date last edited 2018-12-22 17:57:46 +01:00 (CET)

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