Phenotype #0000296573 - Global Variome shared LOVD

Global Variome shared LOVD

OPHN1 (oligophrenin 1)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000296573

Individual ID	00403900
Associated disease	CMT4C
Phenotype details	Progressive weakness and wasting of both upper and lower limbs. severe deep sensory loss, Pes Cavus. nerve conduction velocity study showed demyelinating peripheral neuropathy.
Diagnosis/Initial	Autosomal recessive Hereditary sensorimotor neuropathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT-4C
Age/Examination	42y (42 years)
Age/Diagnosis	28y
Age/Onset	24y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-24 20:54:01 +01:00 (CET)
Date last edited	2022-02-25 08:54:09 +01:00 (CET)

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