Disease #03272 (SPG45 (paraplegia, spastic, type 45, autosomal recessive (SPG-45)), OMIM:613162)

Official abbreviation SPG45
Name paraplegia, spastic, type 45, autosomal recessive (SPG-45)
OMIM ID 613162
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene NT5C2
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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00095069 29123918-Fam PubMed: Darvish 2018 2-generation family, 3 affecteds (2F, M), unaffected carrier parents parents/sibs M yes Iran Asian - - - - SPG45 see paper; ... - NT5C2 1 3 Coro Paisan-Ruiz
00095094 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes Turkey - - - - - SPG45 see paper; ... NT5C2 NT5C2 1 3 Johan den Dunnen
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