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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/270700
http://purl.bioontology.org/ontology/OMIM/270700
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE |
| Synonyms |
SPASTIC PARAPLEGIA AND RETINAL DEGENERATION
KJELLIN SYNDROME
SPG15
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SPASTIC PARAPLEGIA AND RETINAL DEGENERATION
KJELLIN SYNDROME
SPG15
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
ZFYVE26
SPG15
KIAA0321
|
| Scope Statement | Retinal degeneration not always present [MISCELLANEOUS]
Caused by mutation in the zinc finger FYVE domain-containing protein 26 (ZFYVE26, 612012.0001). [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
Age of onset 5 to 19 years [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q24.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 270700
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1849128
|
| Moved from | 606859
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |