syndromic disease epilepsy Miller-Dieker lissencephaly syndrome https://www.malacards.org/card/miller_dieker_lissencephaly_syndrome DOID:0060469 monosomy 17p13.3 OMIM:247200 lissencephaly due to 17p13.3 deletion UMLS:C0265219 MedDRA:10068361 MDLS MONDO:0009532 Orphanet:531 SCTID:253148005 Miller-Dieker lissencephaly syndrome ICD9:758.33 NANDO:1201083 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. DECIPHER:21 GARD:0003669 MEDGEN:78538 NCIT:C124852 Miller-Dieker syndrome telomeric deletion 17p classic lissencephaly chromosome 17p deletion