Phenotype #0000015350

Individual ID 00016991
Associated disease MRX;IDX
Phenotype details see paper; ..., profound developmental delay; no speech, no easily provoked laughter; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (3/4); swallowing difficulty (1/4); flexed arms; ECG epileptiform activity, background frequency 4-7 Hz; MRI brain cerebellar atrophy
Diagnosis/Initial intellectual disability
Inheritance Familial, X-linked
Diagnosis/Definite MRXSCH
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-10-28 15:09:48 +01:00 (CET)
Date last edited 2025-03-14 19:36:14 +01:00 (CET)

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