Global Variome shared LOVD

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

Phenotype #0000210221 Individual ID 00275610 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details birth at term, birth weight 1,360g (-4.7); weight 38kg (-5.16), height 159cm (-2.48), OFC 53cm (-2.00); moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; no seizures; no other abnormal movements; hypotonia; no hypertonia; no ophthalmological findings; tall or broad forehead; long face; protruding ears; no short nose, no long philtrum; hypotonic face/open mouth Inheritance Familial, autosomal recessive Age/Examination 21y (21 years) 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 2020-01-11 14:20:58 +01:00 (CET) Date last edited N/A

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