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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617542
http://purl.bioontology.org/ontology/OMIM/617542
|
|---|---|
| Preferred Name | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
| Synonyms |
DEVELOPMENTAL SPLIT-BRAIN SYNDROME
HGPPS2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEVELOPMENTAL SPLIT-BRAIN SYNDROME
HGPPS2
|
|---|---|
| prefLabel | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
|
| Gene Symbol |
DCC
HGPPS2
MRMV1
|
| Scope Statement | Caused by mutation in the deleted in colorectal carcinoma gene (DCC, 120470.0010) [MOLECULAR BASIS]
Three patients from 2 unrelated consanguineous families have been reported (last curated June 2017) [MISCELLANEOUS]
Onset of scoliosis in childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 18q21.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617542
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4479640
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |