Global Variome shared LOVD

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

Phenotype #0000229621 Individual ID 00302540 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details weight +0.5 SD, height −2.5 SD, OFC +0.5 SD; normal intellectual disability; no facial dysmorphism; no osteochondromas; normal behaviour; diastasis recti, umbilical hernia, cardiac rhabdomyoma Inheritance Familial, autosomal dominant Age/Examination 12m Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-24 15:34:06 +02:00 (CEST) Date last edited N/A

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