Disease #03211 (SPG50; CPSQ3 (paraplegia, spastic, autosomal recessive, type 50 (SPG-50, cerebral palsy, spastic quadriplegic, type 3 (CPSQ-3))), OMIM:612936)

Official abbreviation SPG50; CPSQ3
Name paraplegia, spastic, autosomal recessive, type 50 (SPG-50, cerebral palsy, spastic quadriplegic, type 3 (CPSQ-3))
OMIM ID 612936
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease -
Associated with 1 gene AP4M1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00173734 Patient 1 - - M no Spain White 12y - - - SPG50; CPSQ3 - - AP4M1 2 1 Alejandro Brea-Fernández
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