Phenotype #0000247029

Individual ID 00328822
Associated disease MRT
Phenotype details birth 37w; weight normal for age and height, height 151cm (-2SD), OFC 54cm (0SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 41); athetosis
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Luciana Musante
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-01 09:14:21 +01:00 (CET)
Date last edited N/A

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