Global Variome shared LOVD

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

Phenotype #0000242907 Individual ID 00324364 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 41w, birth weight 3.29kg (p15),; weight p2, height p50, OFC p40; motor development still learning, no speech yet; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; no seizures; tied tongue, frenectomy; prominent forehead (like father), hypertelorism, ptosis, small mouth, thin lips; normal hearing; normal eyes; ear infections 2x / year. frequent skin rashes; Inheritance Isolated (sporadic) Age/Examination 1y3m (1 year, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Bregje van Bon Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-07 19:16:12 +01:00 (CET) Date last edited N/A

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