Phenotype #0000171342

Individual ID 00226217
Associated disease COH1
Inheritance Familial, autosomal recessive
Diagnosis/Initial Cohen syndrome
Age/Examination 04y06m (4 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, no retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour
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 2019-03-03 21:54:39 +01:00 (CET)
Date last edited 2019-03-06 20:09:25 +01:00 (CET)

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