loading...| Preferred Name | Miller-Dieker syndrome | |
| Synonyms |
Lissencephaly due to 17p13.3 deletion Monosomy 17p13.3 Telomeric deletion 17p |
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| Definitions |
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_531 |
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| alternative_term |
Lissencephaly due to 17p13.3 deletion Monosomy 17p13.3 Telomeric deletion 17p |
|
| definition |
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=531 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
ICD-10:Q04.3 MedDRA:10068361 OMIM:247200 UMLS:C0265219 ICD-11:LD20.1 MeSH:D054221 |
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| label |
Miller-Dieker syndrome |
|
| notation |
ORPHA:531 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_102009 |
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| prefixIRI |
ORDO:Orphanet_531 |
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| prefLabel |
Miller-Dieker syndrome |
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| present_in |
Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_102009 |
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| subClassOf |