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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619621
http://purl.bioontology.org/ontology/OMIM/619621
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE |
| Synonyms |
SPG84
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPG84
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
PIK4CA
PMGYCHA
PI4KA
GIDID2
SPG84
|
| Scope Statement | Caused by mutation in the phosphatidylinositol 4-kinase, alpha gene (PI4KA, 600286.0006) [MOLECULAR BASIS]
Slowly progressive [MISCELLANEOUS]
Two unrelated patients have been reported (last curated November 2021) [MISCELLANEOUS]
Onset in first 2 decades (ranged 2 to 17 years) [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q11.21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619621
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5562025
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |