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Mirhosseini-Holmes-Walton syndrome

Orpha number ORPHA3084
Synonym(s) Pigmentary retinopathy - intellectual disability
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
  • C0796072
MeSH -
MedDRA -


Mirhosseini-Holmes-Walton syndrome is characterised by severe intellectual deficit, microcephaly, pigmentary retinal degeneration and cataract. Less than 15 cases have been described so far. Scoliosis, hyperextensible joints and arachnodactyly may also be present. Transmission is likely to be autosomal recessive.

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