Disease #03272

Official abbreviation SPG-45
Name paraplegia, spastic, type 45, autosomal recessive (SPG-45)
OMIM ID 613162
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene NT5C2
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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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 - 0 - - SPG-45 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 - - 0 - - SPG-45 see paper; ... NT5C2 NT5C2 1 3 Johan den Dunnen
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