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1.

Sarcotubular myopathy

A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. [from ORDO]

MedGen UID:
78750
Concept ID:
C0270968
Congenital Abnormality; Disease or Syndrome
2.

Chromosome 8-derived supernumerary ring/marker

A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome. [from SNOMEDCT_US]

MedGen UID:
895673
Concept ID:
C4274902
Disease or Syndrome

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