Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/619005
http://purl.bioontology.org/ontology/OMIM/619005
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA |
| Synonyms |
NEDDISH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDDISH
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
|
| Gene Symbol |
MADD
DENN
NEDDISH
DEEAH
|
| notation | 619005
|
| Scope Statement | Highly variable severity [MISCELLANEOUS]
Some patients may have normal early development [MISCELLANEOUS]
Onset in infancy or first years of life [MISCELLANEOUS]
Caused by mutation in the MAP kinase-activating death domain gene (MADD, 603584.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 11p11.2
|
| tui | T047
|
| cui | C5436585
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |