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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620012
http://purl.bioontology.org/ontology/OMIM/620012
|
|---|---|
| Preferred Name | DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE |
| Synonyms |
DEDHIL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEDHIL
|
|---|---|
| prefLabel | DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE
|
| Gene Symbol |
DEDHIL
FBXW7
AGO
CDC4
|
| Scope Statement | Caused by mutation in the F-box and WD40 domain protein 7 gene (FBXW7, 606278.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Highly variable phenotype and severity [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q31.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620012
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774202
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |