Global Variome shared LOVD

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Phenotype #0000331335 Individual ID 00441952 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDHFBA Phenotype details see paper; ..., severe developmental delays, intellectual disability, facial deformities, muscle weakness, difficulty breathing and feeding, vision impairment. Inheritance Familial, autosomal recessive Age/Examination - 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 2023-11-16 13:29:43 +01:00 (CET) Date last edited N/A

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