Global Variome shared LOVD

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

Phenotype #0000245496 Individual ID 00327051 Associated disease - Phenotype details -RIDDLE-like presentation -Mild to moderate hearing loss -Developmental delay -3-10th %ile height -25th %ile weight -2-50th %ile head circumference -micrognathia. Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lance P Doucette Database submission license No license selected Created by Lance P Doucette Date created 2021-01-19 19:31:10 +01:00 (CET) Date last edited 2021-01-21 11:00:18 +01:00 (CET)

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