Global Variome shared LOVD

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

Phenotype #0000034649 Individual ID 00047287 Associated disease KTZS Phenotype details seizures; sitting; no speech (HP:0001344); amelogenesis imperfecta, yellow teeth, soft enamel & dentin, prone to crumble, sensitivity, late eruption Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y08m Phenotype/Onset - Age/Examination 07y (7 years) Protein - Owner name Human Genetics Medical University Innsbruck Database submission license No license selected Created by Human Genetics Medical University Innsbruck Date created 2015-08-11 15:30:16 +02:00 (CEST) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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