Global Variome shared LOVD

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Phenotype #0000324385 Individual ID 00434006 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-5.6), length (SD-2), weight (SD-1.8); OFC (SD-8.8), length (SD-1.2), weight (SD-1.2); <18m-walk; speech <3y no first senteence; no epilepsy; 3y6m-WPPSI-III FSIQ=55 VIQ=62 PIQ=57 GCL=65; MRI brain 2.6y-gyral simplification; hypo/hyperpigmentation spots Inheritance Familial, autosomal recessive Age/Examination 3.5y 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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