loading...| Preferred Name | Miller-Dieker lissencephaly syndrome | |
| Synonyms |
Miller dieker syndrome (del 17p) Miller-Dieker syndrome MDS |
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| Definitions |
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060469 |
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| created_by |
elvira |
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| creation_date |
2015-11-17T16:22:00Z |
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| database_cross_reference |
UMLS_CUI:C0265219 MESH:D054221 SNOMEDCT_US_2018_03_01:43849007 OMIM:247200 NCI:C124852 ICD10CM:Q93.88 ORDO:531 |
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| fromILAE |
true |
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| has exact synonym |
Miller dieker syndrome (del 17p) Miller-Dieker syndrome MDS |
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| has_obo_namespace |
disease_ontology |
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| hasDefinition |
This clinical syndrome may arise from a microdeletion in chromosome 17p (17p13.3 microdeletion) or from other chromosomal abnormalities (e.g. translocations, ring chromosome, contiguous deletions) affecting 17p. The LIS1 gene is located on 17p and this syndrome includes the presence of classical (type 1) lissencephaly. The children have distinctive facial features with a short upturned nose, thickened upper lip with a thin vermillion upper border, frontal bossing, small jaw, low-set posteriorly rotated ears, sunken appearance in the middle of the face, widely spaced eyes, and hypertelorism. The forehead is prominent with bitemporal hollowing. Most (80%) of cases are sporadic, with 20% of cases inherited from an unaffected parent with a balanced translocation. Renal malformations and omphalocele have also been reported. |
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| id |
DOID:0060469 |
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| imported from | ||
| in subset | ||
| label |
Miller-Dieker lissencephaly syndrome |
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| notation |
DOID:0060469 |
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| prefLabel |
Miller-Dieker lissencephaly syndrome |
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| 文本定义 |
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. |
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| subClassOf |