Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620987
http://purl.bioontology.org/ontology/OMIM/620987
|
|---|---|
| Preferred Name | NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES |
| Synonyms |
NDOABA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NDOABA
|
|---|---|
| prefLabel | NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES
|
| Gene Symbol |
MEF2BNB
NDOABA
BORCS8
|
| Scope Statement | Patients are wheelchair bound and most require assistance with head control and sitting [MISCELLANEOUS]
Caused by mutation in the BLOC1-related complex, subunit 8 gene (BORCS8, 616601.0001) [MOLECULAR BASIS]
Onset in first year of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 19p13.11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620987
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975477
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |