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Items: 3

1.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE USHER SYNDROME, TYPE IC

MedGen UID:
865360
Concept ID:
C4016923
Finding
2.

Deafness, autosomal recessive 18

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
356389
Concept ID:
C1865870
Disease or Syndrome
3.

Usher syndrome, type 1C

Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (RP), a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. [from GeneReviews]

MedGen UID:
338506
Concept ID:
C1848604
Disease or Syndrome
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