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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617481
http://purl.bioontology.org/ontology/OMIM/617481
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES |
| Synonyms |
NMIHBA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NMIHBA
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
|
| Gene Symbol |
NMIHBA
DRES17
PRUNE1
|
| Scope Statement | Found in families of Swampy Cree descent [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the PRUNE exopolyphosphatase 1 gene (PRUNE1, 617413.0001) [MOLECULAR BASIS]
Death in infancy or childhood may occur [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q21.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617481
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4479566
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |