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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618922
http://purl.bioontology.org/ontology/OMIM/618922
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES |
| Synonyms |
NEDSHBA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDSHBA
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
|
| Gene Symbol |
GRM7
NEDSHBA
MGLUR7
|
| Scope Statement | Caused by mutation in the glutamate receptor, metabotropic, 7 gene (GRM7, 604101.0001) [MOLECULAR BASIS]
Onset in early infancy [MISCELLANEOUS]
Death in childhood (in some patients) [MISCELLANEOUS]
Seizures are usually refractory [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p26.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618922
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394517
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |