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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615031
http://purl.bioontology.org/ontology/OMIM/615031
|
|---|---|
| Preferred Name | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY |
| Synonyms |
SPG49, FORMERLY
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, FORMERLY
HSAN9
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SPG49, FORMERLY
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, FORMERLY
HSAN9
|
|---|---|
| prefLabel | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY
|
| Gene Symbol |
TECPR2
HSAN9
KIAA0329
|
| Scope Statement | Described in individuals of Jewish Bukharian descent [MISCELLANEOUS]
Central apneic episodes may be fatal [MISCELLANEOUS]
Onset in the first 2 years of life [MISCELLANEOUS]
Caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (TECPR2, 615000.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q32.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615031
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3542549
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |