syndromic intellectual disability syndromic disease Bonnemann-Meinecke-Reich syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5671 https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration https://www.malacards.org/card/bonnemann_meinecke_reich_syndrome https://www.malacards.org/card/encephalopathy_with_intracranial_calcification_growth_hormone_deficiency_microcephaly_and_retinal_degeneration Orphanet:1261 UMLS:C1856973 GARD:0002113 OMIM:225755 encephalopathy-intracerebral calcification-retinal degeneration syndrome MEDGEN:346482 MESH:C565594 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. SCTID:733049004 Bonnemann Meinecke Reich syndrome encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration MONDO:0009167 multiple congenital anomalies/dysmorphic syndrome-intellectual disability Mendelian encephalopathy obsolete_Bonnemann-Meinecke-Reich syndrome