Mirhosseini–Holmes–Walton syndrome

Mirhosseini–Holmes–Walton syndrome
Classification and external resources
OMIM 268050
DiseasesDB 32623

Mirhosseini–Holmes–Walton syndrome is a syndrome which involves retinal degeneration, cataract, microcephaly, and mental retardation. It was first characterized in 1972.[1][2]

The gene or genes involved have not yet been determined. There is some evidence that this syndrome has the same genetic cause as Cohen syndrome.[3]

References

  1. ↑ Mirhosseini, SA; Holmes, LB; Walton, DS (1972). "Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation". J. Med. Genet. 9 (2): 193–6. doi:10.1136/jmg.9.2.193. PMC 1469024Freely accessible. PMID 5046629.
  2. ↑ Steinlein, O; Tariverdian, G; Boll, H. U.; Vogel, F. (1991). "Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton syndrome". American Journal of Medical Genetics. 41 (2): 196–200. doi:10.1002/ajmg.1320410213. PMID 1785634.
  3. ↑ Norio, R; Raitta, C (1986). "Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?". Am. J. Med. Genet. 25 (2): 397–8. doi:10.1002/ajmg.1320250227. PMID 3096139.


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