Phenotype #0000171422

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00226297
Associated disease	COH1
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	Cohen syndrome
Age/Examination	45y (45 years)
Diagnosis/Definite	COH-1
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, mitralic insuficiency
Protein	-
Owner name	Johan den Dunnen
Database submission 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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