disease has basis in dysfunction of CENPF syndromic intellectual disability Stromme syndrome CILD31 DOID:0110595 EFO:0009160 ICD10:Q87.8 MESH:C565460 MONDO:0009477 OMIM:243605 OMIM:616369 Orphanet:444069 Orphanet:506307 STROMS Stromme syndrome Stromme syndrome is 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). UMLS:CN237682 apple peel syndrome with microcephaly and ocular anomalies apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome ciliary dyskinesia, primary, 31 ciliary dyskinesia, primary, 31, formerly ciliary dyskinesia, primary, type 31 jejunal atresia with microcephaly and ocular anomalies jejunal atresia-microcephaly-ocular anomalies syndrome lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31 multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic intestinal malformation syndromic developmental defect of the eye syndromic urogenital tract malformation primary ciliary dyskinesia other syndrome with a central nervous system malformation as major feature genetic nervous system disorder syndromic renal or urinary tract malformation nephropathy-associated ciliopathy genetic lethal multiple congenital anomalies/dysmorphic syndrome