Disease #00759 (NBIA-2A (neurodegeneration, with brain iron accumulation, type 2A (NBIA-2A, infantile neuroaxonal dystrophy, type 1)), OMIM:256600)

Official abbreviation NBIA-2A
Name neurodegeneration, with brain iron accumulation, type 2A (NBIA-2A, infantile neuroaxonal dystrophy, type 1)
OMIM ID 256600
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene PLA2G6
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Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00080812 - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - 0 - - NBIA-2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) PLA2G6 PLA2G6 1 1 Daniel Trujillano
00080813 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - NBIA-2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) PLA2G6 PLA2G6 1 1 Daniel Trujillano
00080814 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - NBIA-2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) PLA2G6 PLA2G6 1 1 Daniel Trujillano
00080815 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - NBIA-2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) PLA2G6 PLA2G6 1 1 Daniel Trujillano
00080816 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - NBIA-2A Infantile neuroaxonal dystrophy type 1 (OMIM:256600) PLA2G6 PLA2G6 1 1 Daniel Trujillano
00080821 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - NBIA-2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) PLA2G6 PLA2G6 1 1 Daniel Trujillano
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