Global Variome shared LOVD

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

Phenotype #0000243181 Individual ID 00324681 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details no short stature; developmental delay/intellectual disability; epilepsy; hypotonia; ptosis; hypothyroidism; cryptorchidism; no cardiac anomalies Inheritance Familial, autosomal recessive Age/Examination 3y7m (3 years, 7 months) 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 2020-12-22 19:17:48 +01:00 (CET) Date last edited N/A

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