Global Variome shared LOVD

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

Phenotype #0000242919 Individual ID 00324376 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight 3.290kg (p27), ,; weight , height p30, OFC p96; motor development first words at 13 m. reduced vocabulary at 13 ys.; speech furst words 13m; mild intelletual disability; IQ62; autism, attention/concentration deficit; autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; no seizures; unknown; midface retraction. broad nose. broad nasal tip. oligodontia, small mouth, hypertelorism; right cutaneous syndactyly 2/3 finger; myopia; Inheritance Isolated (sporadic) Age/Examination 13y10m (13 years, 10 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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