Mirhosseini-Holmes-Walton syndrome

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Mirhosseini-Holmes-Walton syndrome
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]

The locus is not yet determined. There is some evidence that it has the same genetic cause as Cohen syndrome.[2]

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. PMID 5046629.
  2. 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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