Disease #04048 (SPG-61 (paraplegia, spastic, type 61, autosomal recessive (SPG-61)), OMIM:615685)

Official abbreviation SPG-61
Name paraplegia, spastic, type 61, autosomal recessive (SPG-61)
OMIM ID 615685
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ARL6IP1
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00081050 - Trujillano et al., submitted unaffected parents - - - - - 0 - - SPG-61 Spastic paraplegia 61, autosomal recessive (OMIM:615685) ARL6IP1 ARL6IP1 1 1 Daniel Trujillano
00081273 - PubMed: Novarino 2014, Journal: Novarino 2014 sister of 782-II-VII-2 F - (United States) middle east - 0 - - SPG-61 see paper; ... ARL6IP1 ARL6IP1 1 1 Ramona Jacobs
00081276 - PubMed: Novarino 2014, Journal: Novarino 2014 7-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents, patient 827-II-VII-1 M yes (United States) middle-east >12y 0 pedigree None SPG-61 scissors gait (HP:0012407), difficulty walking (HP:0002355), lower limb spasticity (HP:0002061), hyperactive patellar reflex (HP:0007083), absent Achilles reflex (HP:0003438), extensor pantar reflex (HP:0003487), mixed polyneuropathy predominantly affecting lower limbs (HP:0007237), acromutilation ARL6IP1 ARL6IP1 1 4 Ramona Jacobs
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