Global Variome shared LOVD

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

Phenotype #0000242921 Individual ID 00324378 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight 2.504kg (p8), ,; weight p2, height p35, OFC p8; motor development first words at 5 ys. spoke few words at 7 ys; speech furst words 5ys; moderate development delay (Kyoto developmental scale: 40); febrile seizures; EEG normal; MRI brain normal; triangular face (pointed chin), prominent forehead, narrow ptosis, periorbital fullness, epicanthal folds; hypermetropia both eyes +8 dtp; Inheritance Isolated (sporadic) Age/Examination 7y (7 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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