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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620184
http://purl.bioontology.org/ontology/OMIM/620184
|
|---|---|
| Preferred Name | ATELIS SYNDROME 1 |
| Synonyms |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 5
POOR GROWTH, MICROCEPHALY, DEVELOPMENTAL DELAY, AND ANEMIA
ATELS1
MVA5
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 5
POOR GROWTH, MICROCEPHALY, DEVELOPMENTAL DELAY, AND ANEMIA
ATELS1
MVA5
|
|---|---|
| prefLabel | ATELIS SYNDROME 1
|
| Gene Symbol |
C10orf6
FAM178A
SLF2
ATELS1
|
| Scope Statement | Caused by mutation in the SMC5-SMC6 complex localization factor 2 gene (SLF2, 610348.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620184
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774281
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |