Global Variome shared LOVD

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Phenotype #0000324343 Individual ID 00433965 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details microcephaly, OFC SD-9 to -10; patients with high frustration level, no history of seizures, not able to speak, severe intellectual disability, normal motor skills, normal height, normal hearing and vision, no digital and limb malformations Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-03-16 11:51:24 +01:00 (CET) Date last edited 2023-03-16 12:59:56 +01:00 (CET)

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