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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614457
http://purl.bioontology.org/ontology/OMIM/614457
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|---|---|
| Preferred Name | ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT |
| Synonyms |
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ISQMR
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ISQMR
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|---|---|
| prefLabel | ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT
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| Gene Symbol |
STGD3
SCA34
ELOVL4
ADMD
ISQMR
STGD2
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| Scope Statement | Onset at birth [MISCELLANEOUS]
Two unrelated patients have been reported (as of January 2012) [MISCELLANEOUS]
Caused by mutation in the elongation of very long chain fatty acids-like 4 gene (ELOVL4, 605512.0005) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 6q14
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 614457
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280856
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |