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Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

MedGen UID:
331597
Concept ID:
C1833831
Disease or Syndrome
Synonym: Hagemoser Weinstein Bresnick syndrome
 
Monarch Initiative: MONDO:0008131
OMIM®: 165199

Clinical features

From HPO
Areflexia of lower limbs
MedGen UID:
347285
Concept ID:
C1856694
Finding
Inability to elicit tendon reflexes in the lower limbs.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
A decrease in the ability to perceive vibration in the legs.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

Recent clinical studies

Diagnosis

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M
Acta Ophthalmol 2013 May;91(3):e225-31. Epub 2013 Feb 7 doi: 10.1111/aos.12038. PMID: 23387428

Clinical prediction guides

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M
Acta Ophthalmol 2013 May;91(3):e225-31. Epub 2013 Feb 7 doi: 10.1111/aos.12038. PMID: 23387428

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