developmental malformations-deafness-dystonia syndrome
Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome
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developmental malformations-deafness-dystonia syndrome
Summary
developmental malformations-deafness-dystonia syndrome is a head and neck disease[1].
Key Facts
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as head and neck disease[2].
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as rare disease[4].
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as class of disease[5].
- developmental malformations-deafness-dystonia syndrome is a type of syndromic genetic deafness[6].
- developmental malformations-deafness-dystonia syndrome is a type of rare disorder with dystonia and other neurologic or systemic manifestation[7].
- developmental malformations-deafness-dystonia syndrome is a type of multiple congenital anomalies/dysmorphic syndrome without intellectual disability[8].
- developmental malformations-deafness-dystonia syndrome's genetic association is recorded as ACTB[9].
- developmental malformations-deafness-dystonia syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79107[10].