disease has major feature Lissencephaly syndromic intellectual disability congenital nervous system disorder lissencephaly spectrum disorders https://github.com/monarch-initiative/mondo/issues/1312 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/lissencephaly NANDO:1200574 Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pachygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. (PMID:20331703, PMID:28440899) Broad gyri of cerebrum lissencephaly Lissencephaly MONDO:0018838 lissencephaly spectrum disorders GARD:0012291 HP:0001339 MedDRA:10048911 large gyri of cerebrum MESH:D054082 UMLS:C0266463 SCTID:204036008 pachygyria NANDO:2200817 lissencephaly (disease) NORD:1374 macrogyria The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis. Orphanet:48471 NCIT:C103921 OMIMPS:607432 MEDGEN:78604 DOID:0050453 disorder of development or morphogenesis hereditary neurological disease