Global Variome shared LOVD

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

Phenotype #0000242904 Individual ID 00324361 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details weight p45, height p75,; motor development first word 2-3 ys 30-50 words at 6 ys. 150-200 signs at 6 ys; speech furst words 2-3y; attention/concentration deficit; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; hypotonia; no seizures; 18m-MRI brain delayed myelination; bulbous nose, relatively small eyes; broad hands and feet; normal hearing; hypermetropia; Inheritance Isolated (sporadic) Age/Examination 6y (6 years) 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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