Global Variome shared LOVD

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

Phenotype #0000257456 Individual ID 00362043 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; truncal hypotonia; MRI brain normal; deep philtrum; tall forehead; strabismus; relative macrocephaly, upward-slanting palpebral fissures, long eyelashes, straight hair Inheritance Isolated (sporadic) Age/Examination 2y7m (2 years, 7 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 2021-04-15 11:18:09 +02:00 (CEST) Date last edited N/A

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