Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615643
http://purl.bioontology.org/ontology/OMIM/615643
|
|---|---|
| Preferred Name | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 |
| Synonyms |
NBIA6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NBIA6
|
|---|---|
| prefLabel | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
|
| Gene Symbol |
COASY
NBIA6
PCH12
|
| Scope Statement | Gait difficulties and beginning of cognitive decline in first decade [MISCELLANEOUS]
Three unrelated families have been reported (last curated January 2019) [MISCELLANEOUS]
Loss of independent ambulation in the second decade [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Caused by mutation in the coenzyme A synthase gene (COASY, 609855.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 17q12-q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615643
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4517377
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |