Global Variome shared LOVD

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

Phenotype #0000350045 Individual ID 00447956 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite - Phenotype details see paper; ..., birth severe microcephaly; developmental delay, dysmorphic features, failure to thrive, growth retardation, grossly normal skeletal development, mild intellectual disability Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lynn Backers Database submission license No license selected Created by Johan den Dunnen Date created 2025-02-13 16:42:28 +01:00 (CET) Date last edited N/A

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