Global Variome shared LOVD

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Phenotype #0000171418 Individual ID 00226293 Associated disease COH1 Inheritance Familial, autosomal recessive Diagnosis/Initial Cohen syndrome Age/Examination 3y6m (3 years, 6 months) Diagnosis/Definite COH-1 Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, neonatal hypotonia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-07 09:31:16 +01:00 (CET) Date last edited N/A

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