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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618354
http://purl.bioontology.org/ontology/OMIM/618354
|
|---|---|
| Preferred Name | HOUGE-JANSSENS SYNDROME 3 |
| Synonyms |
HJS3
NEDLBA
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HJS3
NEDLBA
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
|
|---|---|
| prefLabel | HOUGE-JANSSENS SYNDROME 3
|
| Gene Symbol |
NEDLBA
PPP2CA
HJS3
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| Scope Statement | Caused by mutation in the protein phosphatase 2, catalytic subunit, alpha isoform gene (PPP2CA, 176915.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Highly variable extraneurologic phenotype [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 5q23-q31
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618354
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193048
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |