Global Variome shared LOVD

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

Phenotype #0000348086 Individual ID 00460358 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details see paper; ..., birth weight 2,500g (-2.38); height 128cm (-1.64), OFC 54cm (+0.84); 2y-walk; no speech; very limited comprehension; no regression; severe Intellectual disability; seizures; normal sleep; short, deep philtrum; normal hearing; normal vision; 2y6m-aortic stenosis Inheritance Familial, autosomal recessive Age/Examination 10y (10 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 2025-01-24 19:20:35 +01:00 (CET) Date last edited N/A

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