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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/618828
http://purl.bioontology.org/ontology/OMIM/618828
|
|---|---|
| Preferred Name | NABAIS SA-DE VRIES SYNDROME, TYPE 1 |
| Synonyms |
NSDVS1
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES
NEDMIDF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NSDVS1
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES
NEDMIDF
|
|---|---|
| prefLabel | NABAIS SA-DE VRIES SYNDROME, TYPE 1
|
| Gene Symbol |
NSDVS1
SPOP
NSDVS2
|
| notation | 618828
|
| Scope Statement | Patient A had a more severe phenotype [MISCELLANEOUS]
Two unrelated patients have been reported (last curated March 2020) [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the speckle-type BTB/POZ protein gene (SPOP, 602650.0002) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 17q21.33
|
| tui | T047
|
| cui | C5394218
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