loading...| Preferred Name | Miller-Dieker lissencephaly syndrome | |
| Synonyms |
MDLS chromosome 17P13.3 deletion syndrome Miller-Dieker syndrome chromosome region lissencephaly due to 17p13.3 deletion telomeric deletion 17p monosomy 17p13.3 Miller-Dieker syndrome Miller-Dieker lissencephaly syndrome |
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| Definitions |
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009532 |
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| altLabel |
MDLS chromosome 17P13.3 deletion syndrome Miller-Dieker syndrome chromosome region lissencephaly due to 17p13.3 deletion telomeric deletion 17p monosomy 17p13.3 Miller-Dieker syndrome Miller-Dieker lissencephaly syndrome |
|
| definition |
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. |
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| has_exact_synonym |
lissencephaly due to 17p13.3 deletion telomeric deletion 17p monosomy 17p13.3 Miller-Dieker syndrome Miller-Dieker lissencephaly syndrome |
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| has_related_synonym |
MDLS chromosome 17P13.3 deletion syndrome Miller-Dieker syndrome chromosome region |
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| label |
Miller-Dieker lissencephaly syndrome |
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| prefixIRI |
MONDO:0009532 |
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| prefLabel |
Miller-Dieker lissencephaly syndrome |
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| textual definition |
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022754 http://purl.obolibrary.org/obo/MONDO_0015653 |