Disease #03811

Official abbreviation SPG-56
Name paraplegia, spastic, type 56, autosomal recessive (SPG-56)
OMIM ID 615030
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 1 gene CYP2U1
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Disease features -
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00080879 - Trujillano et al., submitted unaffected parents - - - - - 0 - - SPG-56 Spastic paraplegia 56, autosomal recessive (OMIM:615030) CYP2U1 CYP2U1 1 1 Daniel Trujillano
00131878 Case 1 Durand et al., in revision - M yes Turkey - >12y 0 - - SPG-56 - CYP2U1 CYP2U1 1 1 Isabelle Coupry
00131884 Case 2 Durand et al., in revision - M no Italy - 08y 0 - - SPG-56 - CYP2U1 CYP2U1 1 1 Isabelle Coupry
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