Albinism deafness syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 998
Definition
A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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| Microphthalmia |
| Hypopigmented skin patches |
| Intestinal pseudo-obstruction |
| Pancreatic pseudocyst |
| Irregular hyperpigmentation |
| Neurological speech impairment |
| Sensorineural hearing impairment |
30%-79% of people have these symptoms.
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| Generalized seborrheic dermatitis |
| Renal tubular dysfunction |
| Partial albinism |
| Piebaldism |
5%-29% of people have these symptoms.
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| Femoral bowing |
| Heterochromia iridis |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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