Global Variome shared LOVD

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Phenotype #0000301099 Individual ID 00408981 Associated disease MCCRP1 Phenotype details congenital pachygyric microcephaly; global developmental delay; chorioretinopathy and retinal detachment Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1) Age/Examination - 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 2022-04-29 17:32:37 +02:00 (CEST) Date last edited N/A

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