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Growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy

MedGen UID:
330820
•Concept ID:
C1842321
•
Disease or Syndrome
Synonym: Growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
 
Monarch Initiative: MONDO:0012005
OMIM®: 608278

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