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Items: 3

1.

Myopathy, congenital, with fiber-type disproportion, X-linked

MedGen UID:
440714
Concept ID:
C2749128
Disease or Syndrome
2.

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. [from ORDO]

MedGen UID:
347880
Concept ID:
C1859432
Disease or Syndrome
3.

Frontalis muscle weakness

Reduced strength of the frontalis muscle (which is located on the forehead). [from HPO]

MedGen UID:
347143
Concept ID:
C1859438
Finding
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