Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616286
http://purl.bioontology.org/ontology/OMIM/616286
|
|---|---|
| Preferred Name | LETHAL CONGENITAL CONTRACTURE SYNDROME 7 |
| Synonyms |
LCCS7
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LCCS7
|
|---|---|
| prefLabel | LETHAL CONGENITAL CONTRACTURE SYNDROME 7
|
| Gene Symbol |
CNTNAP1
CASPR
CHN3
P190
|
| Scope Statement | Onset between 28-32 weeks of gestation [MISCELLANEOUS]
Death in neonatal period [MISCELLANEOUS]
Caused by mutation in the contactin-associated protein-like 1 gene (CNTNAP1, 602346.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 17q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616286
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225386
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |