Skip to main content
Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Fig. 2

Photos and audiograms. a– Photos of affected patient SK5 – II/1 the broad nose is visible, no angiokeratomas on the patient were visible – not shown. b – Audiograms from families SK5 and SK6. The audiogram in SK5 - II/1 – dashed line represents ASSR (objective estimation of the hearing threshold), full lines are pure tone, audiometric curves at the age of 13 and 26 years. Note the discrepancy between pure tone audiometry and ASSR thresholds measured at the same age (26 years) which might result from mental retardation. In patient SK6 - III/1 the audiogram for only the left ear is presented; it was not possible to examine reliably the right ear due to noncompliance of the subject with mental retardation

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172