" /> growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy - CISMeF





Preferred Label : growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy;

UMLS semantic type : T047 - Disease or Syndrome;

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27/07/2025


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