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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/247200
http://purl.bioontology.org/ontology/OMIM/247200
|
|---|---|
| Preferred Name | MILLER-DIEKER LISSENCEPHALY SYNDROME |
| Synonyms |
MILLER-DIEKER SYNDROME CHROMOSOME REGION
MDS
MDCR
MDLS
CHROMOSOME 17p13.3 DELETION SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MILLER-DIEKER SYNDROME CHROMOSOME REGION
MDS
MDCR
MDLS
CHROMOSOME 17p13.3 DELETION SYNDROME
|
|---|---|
| prefLabel | MILLER-DIEKER LISSENCEPHALY SYNDROME
|
| Gene Symbol |
MDS
MDLS
DEL17p13.3
MDCR
C17DELp13.3
|
| Scope Statement | Contiguous gene syndrome [MISCELLANEOUS]
Death often before age 2 [MISCELLANEOUS]
A contiguous gene syndrome caused by deletion of the lissencephaly 1 gene (LIS1, 601545) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (YWHAE, 605066) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
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| tui |
T047
T033
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| Gene Locus | 17p13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 247200
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1855481
C0265219
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |