Global Variome shared LOVD

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Phenotype #0000278960 Individual ID 00385164 Associated disease - Phenotype details HP:0000252 Microcephaly; HP:0011968 Feeding difficulties; HP:0001263 Global developmental delay; HP:0007973 Retinal dysplasia; HP:0007773 Vitreoretinopathy Diagnosis/Initial Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (AD) Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 1y2m (1 year, 2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-08 17:29:22 +02:00 (CEST) Date last edited N/A

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