Phenotype #0000312769

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00421533
Associated disease	SPG77
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Hypotonia, Motor delay, Lower limb muscle weakness, Impaired pain sensation, Abnormal pyramidal sign, Delayed speech and language development, Joint hypermobility
Inheritance	Familial, autosomal recessive
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2022-11-07 13:39:10 +01:00 (CET)
Date last edited	2022-11-09 11:24:32 +01:00 (CET)

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