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Results: 3

1.

Optic atrophy and cataract, autosomal dominant

MedGen UID:
371657
Concept ID:
C1833809
Disease or Syndrome
2.

3-Methylglutaconic aciduria type 3

OPA3-related 3-methylglutaconic aciduria is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive, decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable. [from GeneReviews]

MedGen UID:
108273
Concept ID:
C0574084
Disease or Syndrome
3.

Aplasia of the bladder

Aplasia (absence) of the `urinary bladder` (FMA:15900). [from HPO]

MedGen UID:
426721
Concept ID:
CN009308
Finding

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