Phenotype #0000125668

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152725
Associated disease	ALS
Phenotype details	severe atrophy in lower extremities and paravertebral muscles, generalized weakness, unresponsive plantar reflexes, diminished tendon reflexes, high arch feet, hammer toe; never walked
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	28y (28 years)
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-09 09:39:36 +01:00 (CET)
Date last edited	N/A

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