Agent Commons Collaborative Research
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
rareCongenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.
- Identifiers
- MONDO:0009803 OMIM:259410Orphanet:2772
- Part of
- Hereditary disease
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