syndromic disease eye degenerative disorder nervous system disorder corneal-cerebellar syndrome https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spinocerebellar_degeneration_and_corneal_dystrophy MESH:C535472 UMLS:C1849087 spinocerebellar degeneration-corneal dystrophy syndrome corneal-cerebellar syndrome corneal cerebellar syndrome OMIM:271310 GARD:0001525 MEDGEN:341379 Der Kaloustian-Jarudi-Khoury syndrome Orphanet:3177 MONDO:0010063 SCTID:720750004 spinocerebellar degeneration corneal dystrophy icd11.foundation:577494924 A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. Der Kaloustian Jarudi Khoury syndrome hereditary ataxia