Phenotype #0000015360

Individual ID 00017001
Associated disease MRX;IDX
Phenotype details see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements (2/3); squint; microcephaly; open mouth (2/3), drooling (2/3); swallowing difficulty (2/3); flexed arms; ECG epileptiform activity, background frequency 10-11 Hz; MRI brain cerebellar atrophy (1/3)
Diagnosis/Initial intellectual disability
Inheritance Familial, X-linked recessive
Diagnosis/Definite MRXSCH
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
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 2010-10-23 11:10:00 +02:00 (CEST)
Date last edited 2025-03-14 19:28:26 +01:00 (CET)

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