Miller-Dieker lissencephaly syndrome
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.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015146
classic lissencephaly
is_a
MONDO:0022754
chromosome 17p deletion
is_a
MDLS
related
Miller-Dieker lissencephaly syndrome
exact
Miller-Dieker syndrome
exact
lissencephaly due to 17p13.3 deletion
exact
monosomy 17p13.3
exact
telomeric deletion 17p
exact