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Mirhosseini-Holmes-Walton syndrome

Orpha number ORPHA3084
Synonym(s) Pigmentary retinopathy - intellectual disability
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS
  • C0796072
MeSH -
MedDRA -
SNOMED CT -

Summary

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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