Global Variome shared LOVD

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Phenotype #0000350783 Individual ID 00465248 Associated disease MCPH5 Phenotype details Moderate to late preterm birth, Short chin, Small for gestational age, Microcephaly, Inguinal hernia, Abnormality of temperature regulation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y02m (2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2025-04-28 11:28:01 +02:00 (CEST) Date last edited 2025-05-01 19:09:01 +02:00 (CEST)

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