Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000324396 Individual ID 00434017 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-3.1), length (SD-2.2), weight (SD+0.1); OFC (SD-7.3), length (SD-0.8), weight (SD-0.5); <18m-walk; speech <3y no first senteence; no epilepsy; coarse facial features, retrognathia Inheritance Familial, autosomal recessive Age/Examination 7.4y 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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