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- Bf513ec8189f2e07ce25ace987076b3c6 hasDbXref "Orphanet:1261" @default.
- Bf513ec8189f2e07ce25ace987076b3c6 type Axiom @default.
- Bf513ec8189f2e07ce25ace987076b3c6 annotatedProperty IAO_0000115 @default.
- Bf513ec8189f2e07ce25ace987076b3c6 annotatedSource MONDO_0009167 @default.
- Bf513ec8189f2e07ce25ace987076b3c6 annotatedTarget "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." @default.