Global Variome shared LOVD

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

Phenotype #0000229636 Individual ID 00302555 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details weight 0 SD, height −0.5 SD, OFC −0.2 SD; severe intellectual disability; long face, triangular; full eyebrows; no osteochondromas; autism, abnormal movements, automutilation, hyperventilation Inheritance Isolated (sporadic) Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-24 15:34:06 +02:00 (CEST) Date last edited N/A

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