Global Variome shared LOVD

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Phenotype #0000346997 Individual ID 00458566 Associated disease NDD Diagnosis/Initial global developmental delay Diagnosis/Definite NEDGFC Phenotype details see paper; ..., normal pregnancy; global developmental delay, mild motor delay, moderate intellectual disability, 2y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; atrial septal defect; ventricular septum defect; no feeding difficulties; height (-1.6); myopia, esotropia Inheritance Familial, autosomal recessive Age/Examination 23y (23 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 2024-12-18 21:50:11 +01:00 (CET) Date last edited N/A

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