Phenotype #0000278957

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00385161
Associated disease	-
Phenotype details	HP:0000505 Visual Impairment;; HP:0000750 Delayed speech and language development; HP:0000322:Short philtrum; HP:0000448:Prominent nose; HP:0001270 motor delay; HP:0000252:Microcephaly; HP:0002421 poor head control; HP:0002019:Constipation;
Diagnosis/Initial	Cohen syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	49y2m (49 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-10-08 17:29:22 +02:00 (CEST)
Date last edited	N/A

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