Retinopathy, Pigmentary, and Mental Retardation

Alternative Names

  • Mirhosseini-Holmes-Walton Syndrome
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

268050

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q21.3-q22.1

Description

Mirhosseini-Holmes-Walton syndrome clinically resembles Cohen syndrome, and whether these are clinically and genetically uniform entities has been disputed. These two disorders diverge considering the main clinical features only in respect to intermittent neutropenia, not reported in Mirhosseini-Holmes-Walton syndrome. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
268050.1.1LebanonMaleYesYes Microcephaly; Postnatal growth retardat...NM_017890.4:c.9406-1G>THomozygousAutosomal, RecessiveHennies et al. 2004 Brother of 268050.1....
268050.1.2LebanonMaleYesYes Microcephaly; Postnatal growth retarda...NM_017890.4:c.9406-1G>THomozygousAutosomal, RecessiveHennies et al. 2004 Brother of 268050.1....
268050.1.3LebanonMaleYesYes Microcephaly; Postnatal growth retard...NM_017890.4:c.9406-1G>THomozygousAutosomal, RecessiveHennies et al. 2004 Cousin of 268050.1.1...

Other Reports

Lebanon

Horn et al. (2000) reported 2 brothers and a cousin from a multiply consanguineous kindred of Lebanese descent with a syndrome of microcephaly, progressive postnatal growth deficiency, mental retardation, hypotonia, chorioretinal dystrophy, and myopia.  Homozygosity mapping localized the gene responsible for this condition to a 26.8-cM region on chromosome 8q21.3-q22.1 that overlaps the refined gene region for Cohen syndrome. The authors hypothesized that the syndrome in this family, Cohen syndrome, and Mirhosseini-Holmes-Walton syndrome may be allelic.

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