Disease #04043

Official abbreviation SPG-57
Name paraplegia, spastic, type 57, autosomal recessive (SPG-57)
OMIM ID 615658
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene TFG
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Disease features -
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00059235 - - homozygous in three affected siblings, heterozygous in parents and one sibling, not present in one healthy sibling F yes (France);Sudan - - 0 yes - SPG-57 spastic paraplegia, cognitive impairment - TFG 1 3 Mahmoud Koko
00074496 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - 0 - - SPG-57 subclinical signs for upper motoneuron pathology TFG TFG 1 1 Christian Beetz
00074498 - Harlalka et al, submitted to Human Mutation in 2016 - M yes Pakistan - - 0 - - SPG-57 - TFG TFG 1 1 Christian Beetz
00074499 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - 0 - - SPG-57 - TFG TFG 1 1 Christian Beetz
00074500 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - 0 - - SPG-57 - TFG TFG 1 1 Christian Beetz
00074502 - Harlalka et al, submitted to Human Mutation in 2016 - F ? India - - 0 - - SPG-57 - TFG TFG 1 1 Christian Beetz
00074503 - Harlalka et al, submitted to Human Mutation in 2016 - F ? India - - 0 - - SPG-57 - TFG TFG 1 1 Christian Beetz
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