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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618330
http://purl.bioontology.org/ontology/OMIM/618330
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT MOTOR OR SPEECH DELAY |
| Synonyms |
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
NEDDMS
GDDI
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
NEDDMS
GDDI
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT MOTOR OR SPEECH DELAY
|
| Gene Symbol |
CDP
NEDDMS
CUTL1
CUX1
|
| Scope Statement | De novo mutation (in some patients) [MISCELLANEOUS]
Caused by mutation in the cut-like homeobox 1 gene (CUX1, 116896.0001) [MOLECULAR BASIS]
Developmental catch-up (in some patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618330
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193032
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |