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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614067
http://purl.bioontology.org/ontology/OMIM/614067
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE |
| Synonyms |
CPSQ6, FORMERLY
SPG52
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CPSQ6, FORMERLY
SPG52
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
SPG52
AP4S1
CPSQ6
|
| Scope Statement | Two unrelated families have been reported (last curated May 2016) [MISCELLANEOUS]
Caused by mutation in the adaptor-related protein complex 4, sigma-1 subunit (AP4S1, 607243.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614067
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3279743
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |