Autosomal recessive deafnessassociated with short stature, vitiligo, muscle wasting and achalasia.
D000328:Adult; D001299:Audiometry; D001797:Blood Protein Electrophoresis; D001824:Body Constitution; D001827:Body Height; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D003638:Deafness / Q000150:complications / Q000235:genetics*; D004931:Esophageal Achalasia / Q000235:genetics*; D006801:Humans