Opticocochleodentate degeneration

MedGen UID:: 101046
•Concept ID:: C0520711
•: Disease or Syndrome

Synonym:	Opticocochleodentate Degeneration
SNOMED CT:	Opticocochleodentate degeneration (77553008)

Monarch Initiative:	MONDO:0009790
OMIM®:	258700

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Cochlear degeneration

MedGen UID:: 338612
•Concept ID:: C1849095
•: Finding

Deterioration or loss of the tissues of the cochlea.

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Mental deterioration

MedGen UID:: 66713
•Concept ID:: C0234985
•: Mental or Behavioral Dysfunction

Loss of previously present mental abilities, generally in adults.

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Spastic tetraplegia

MedGen UID:: 98433
•Concept ID:: C0426970
•: Disease or Syndrome

Spastic paralysis affecting all four limbs.

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Absent speech

MedGen UID:: 340737
•Concept ID:: C1854882
•: Finding

Complete lack of development of speech and language abilities.

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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.

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Visual loss

MedGen UID:: 784038
•Concept ID:: C3665386
•: Finding

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

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