Visualize Submit Comment
Metadata
ID DOID:0110735
Name neurodegeneration with brain iron accumulation 2a
Definition A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.
https://omim.org/entry/256600, https://www.ncbi.nlm.nih.gov/pubmed/18443314
Xrefs

GARD:2751

ICD10CM:G23.0

OMIM:256600

Subsets

DO_rare_slim

Synonyms

INAD1 [EXACT]

Infantile Neuroaxonal Dystrophy 1 [EXACT]

NBIA2a [EXACT]

Neurodegeneration, Pla2g6-Associated [EXACT]

Seitelberger Disease [EXACT]

Parent Relationships

is_a neurodegeneration with brain iron accumulation

is_a autosomal recessive disease

Add an item to the term tracker