Global Variome shared LOVD

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Phenotype #0000278888 Individual ID 00385105 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite PCH13 Phenotype details see paper; ..., delayed psychomotor development, absent speech, severe intellectual disability, postnatal microcephaly, brain malformations, cerebellar atrophy (1/2), hypoplastic corpus callosum (1/2) 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 2021-10-07 11:01:53 +02:00 (CEST) Date last edited N/A

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