Disease #03377 (SPG48 (paraplegia, spastic, type 48, autosomal recessive), OMIM:613647)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	SPG48
Name	paraplegia, spastic, type 48, autosomal recessive
OMIM ID	613647
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	AP5Z1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2025-04-09 09:21:19 +02:00 (CEST)

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