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1.

Congenital muscular dystrophy with cataracts and intellectual disability

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017). [from OMIM]

MedGen UID:
1382291
Concept ID:
C4479410
Disease or Syndrome
2.

Increased adipose tissue

An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). [from HPO]

MedGen UID:
870151
Concept ID:
C4024583
Finding

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