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Usher syndrome, type 1M(USH1M)

MedGen UID:
1684669
•Concept ID:
C5231434
•
Disease or Syndrome
Synonyms: USH1M; USHER SYNDROME, TYPE 1M
 
Gene (location): ESPN (1p36.31)
 
Monarch Initiative: MONDO:0032841
OMIM®: 618632

Definition

Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa (Ahmed et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 (276900). [from OMIM]

Clinical features

From HPO
Left ventricular hypertrophy
MedGen UID:
57442
•Concept ID:
C0149721
•
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
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Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
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Prelingual sensorineural hearing impairment
MedGen UID:
867432
•Concept ID:
C4021806
•
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
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Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
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Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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Drusen
MedGen UID:
488956
•Concept ID:
C1260959
•
Finding
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
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