Craniofacial-deafness-hand syndrome
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Sign InDescription
Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder characterized by dysmorphic facial features, hand abnormalities, absent or hypoplastic nasal and wrist bones, and severe sensorineural hearing impairment (summary by Gad et al., 2008).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
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