has material basis in germline mutation in CENPF syndromic intellectual disability Stromme syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6744 https://www.malacards.org/card/stromme_syndrome jejunal atresia with microcephaly and ocular anomalies Orphanet:444069 Stromme syndrome CILD31 apple peel syndrome with microcephaly and ocular anomalies MEDGEN:340938 lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome UMLS:C1855705 GARD:0017945 ciliary dyskinesia, primary, 31 apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome MESH:C565460 EFO:0009160 An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). ciliary dyskinesia, primary, 31, formerly ciliary dyskinesia, primary, type 31 OMIM:616369 jejunal atresia-microcephaly-ocular anomalies syndrome STROMS DOID:0110595 MONDO:0009477 Orphanet:506307 lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome OMIM:243605 multiple congenital anomalies/dysmorphic syndrome-intellectual disability primary ciliary dyskinesia hereditary lethal multiple congenital anomalies/dysmorphic syndrome