Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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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