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1.

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. [from NCI]

MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
2.

Uncontrolled eye movements

MedGen UID:
340279
Concept ID:
C1854686
Finding

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