GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Infantile Neuroaxonal Dystrophy  
Disease Aliases (22)

Hunter carpenter macdonald syndrome

Hunter-carpenter-mcdonald syndrome

Inad

Inad1

Infantile neuroaxonal dystrophy 1

Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy

Karak syndrome, included

Nbia2a

Nbia2b

Neuroaxonal dystrophy, atypical

Neuroaxonal dystrophy, infantile

Neurodegeneration with brain iron accumulation, pla2g6-related

Neurodegeneration, pla2g6-associated

Neurodegeneration with brain iron accumulation 2b

Plan

Phospholipase a2-associated neurodegeneration

Seitelberger disease

Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene

Neurodegeneration with brain iron accumulation 2a

Neurodegeneration with brain iron accumulation 2a; nbia2a

Neurodegeneration with brain iron accumulation type 2a

Associated Genes (1)
 

NCBI-RefSeq:  PLA2G6   (Phospholipase A2 group VI)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Infantile neuroaxonal dystrophy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations