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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617711
http://purl.bioontology.org/ontology/OMIM/617711
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 |
| Synonyms |
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
DEE91
IECEE1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
DEE91
IECEE1
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
|
| Gene Symbol |
PPP2B
CALNA
DEE91
PPP3CA
ACCIID
CNA1
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|
| Scope Statement | Onset of developmental delay in infancy [MISCELLANEOUS]
Caused by mutation in the protein phosphatase 3, catalytic subunit, alpha isoform gene (PPP3CA, 114105.0001) [MOLECULAR BASIS]
Onset of seizures between first weeks and first years of life [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q24-q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617711
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4540199
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |