Phenotype #0000301055

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408937
Associated disease	-
Phenotype details	mild cerebellar atrophy
Diagnosis/Initial	Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts (PHARC)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	42y (42 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	pes cavus, demyelinating Charcot-Marie-Tooth (CMT)
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-04-29 01:04:01 +02:00 (CEST)
Date last edited	N/A

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