Phenotype #0000070638

Individual ID 00092293
Associated disease MRT
Phenotype details birth 38w; weight normal for age and height, height 150cm (-2SD), OFC 52cm (-2SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 46); athetosis
Diagnosis/Initial intellectual disability
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Luciana Musante
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-12-23 14:46:52 +01:00 (CET)
Date last edited 2021-02-01 09:01:04 +01:00 (CET)

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