Phenotype #0000297493

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404935
Associated disease	CMT
Phenotype details	see paper; ..., early childhood weakness and wasting all limbs starting; EMG neurogenic pattern; subclinical sensory neuropathy; hypomyelination, hypermyelination, infolding myelin membranes coiled into myelinated axo.
Diagnosis/Initial	lower motor neuron disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMTRIC
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-10 21:29:54 +01:00 (CET)
Date last edited	N/A

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