Phenotype #0000171415

Individual ID 00226290
Associated disease COH1
Inheritance Familial, autosomal recessive
Diagnosis/Initial Cohen syndrome
Age/Examination 19y (19 years)
Diagnosis/Definite COH-1
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, intrauterine growth retardation, hip asymmetry
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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