Global Variome shared LOVD

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Phenotype #0000172158 Individual ID 00228228 Associated disease ? Diagnosis/Initial DD/ID Diagnosis/Definite - Phenotype details see paper; ..., developmental delay, delayed walking (2y), speech not attained (some sign language), intellectual disability, hypotonia, ankyloglossia (operated), MRI-brain normal, slow feeder (slow with milk and solids), gastroesophageal reflux, low hairline, upturned earlobes, mild bilateral hearing loss, small hands and feet; small, rounded teeth, pointed canines; frontal bossing, long eyebrows, plagiocephaly Inheritance Isolated (sporadic) Age/Examination 06y03m (6 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-22 09:01:23 +01:00 (CET) Date last edited 2019-03-22 09:16:31 +01:00 (CET)

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