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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615191
http://purl.bioontology.org/ontology/OMIM/615191
|
|---|---|
| Preferred Name | LISSENCEPHALY 5 |
| Synonyms |
LIS5
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LIS5
|
|---|---|
| prefLabel | LISSENCEPHALY 5
|
| Gene Symbol |
LIS5
LAMB1
|
| Scope Statement | Caused by mutation in the beta-1 laminin gene (LAMB1, 150240.0001) [MOLECULAR BASIS]
Six patients from 3 unrelated families have been reported (last curated April 2016) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Onset in the first decade (range infancy to later childhood) [MISCELLANEOUS]
Episodic neurologic deterioration with stress [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7q31.1-q31.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615191
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3554657
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |