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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618603
http://purl.bioontology.org/ontology/OMIM/618603
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES |
| Synonyms |
NEDHIB
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDHIB
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
|
| Gene Symbol |
NEDHIB
POLR2A
RPOL2
|
| Scope Statement | Highly variable severity [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the polymerase II, RNA, subunit A gene POLR2A (180660.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17p13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618603
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231423
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |