Global Variome shared LOVD

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Phenotype #0000298310 Individual ID 00405813 Associated disease NDD Diagnosis/Initial global developmental delay Diagnosis/Definite - Phenotype details see paper; ..., developmental delay; severe intellectual disability; no speech; seizures; MRI brain diffuse cerebral atrophy, thin corpus callosum, hypomyelination, deep cortical sulcus; hypomagnesemia; poor growth (difficulty in gaining weight); undescended testis; hirsutism Inheritance Familial, autosomal recessive Age/Examination 7y (7 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 2022-03-22 19:13:14 +01:00 (CET) Date last edited N/A

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