Global Variome shared LOVD

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

Phenotype #0000070630 Individual ID 00092286 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details birth 40w; height 158cm (-3SD), OFC 51cm (-4SD); no facial features; delyed psychomotor development; ataxia; muscle weakness; seizure; aggressive behavior; speech impairment; moderate intellectual disability (IQ 45); pes planus, thin body Age/Examination 30y (30 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 2016-12-22 08:44:11 +01:00 (CET) Date last edited 2021-02-01 09:02:22 +01:00 (CET)

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