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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617560
http://purl.bioontology.org/ontology/OMIM/617560
|
|---|---|
| Preferred Name | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY |
| Synonyms |
SPAX8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPAX8
|
|---|---|
| prefLabel | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
|
| Gene Symbol |
NKX6-2
NKX6B
NKX6.2
SPAX8
|
| Scope Statement | Caused by mutation in the homolog of the Drosophila NK6 transcription factor related, locus 2 gene (NKX6-2, 605955.0001) [MOLECULAR BASIS]
Most patients become wheelchair-bound [MISCELLANEOUS]
Onset in first year of life [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q26
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617560
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4479653
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |