Global Variome shared LOVD

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Phenotype #0000324388 Individual ID 00434009 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details ultrasound no microcephaly; birth OFC (SD-2.2), length (SD-2.4), weight (SD-0.6); OFC (SD-5.8), length (SD-1.1), weight (SD-0.4); <18m-walk; speech <3y no first senteence; no epilepsy; 10y-FSIQ70; MRI brain 1y-slight cortical atrophy; scoliosis, hypopigmentation spot, inverted nipples Inheritance Familial, autosomal recessive Age/Examination 23.8y 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 21:41:13 +01:00 (CET) Date last edited N/A

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