Global Variome shared LOVD

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

Phenotype #0000015381 Individual ID 00017022 Associated disease MRX;IDX Phenotype details born 36w, low birth measurements, length 46 cm (<3rd centile), weight 2410 g (<3rd centile), OFC 32.5 cm (<3rd centile); psychomotor development severely retarded, 2y-seizures; 4y-not walk, no speech, strabismus, OFC 46 cm (3 cm below the 3rd centile) Diagnosis/Initial intellectual disability Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Andreas Tzschach Database submission license No license selected Created by Andreas Tzschach Date created 2014-06-04 13:44:34 +02:00 (CEST) Date last edited 2021-12-02 11:44:36 +01:00 (CET)

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