Auditory system hereditary disorder
Autosomal dominant hereditary disorder
Congenital neurological disorder
Developmental hereditary disorder
Disorder of sensory function
Generalized dystonia
Hearing loss associated with syndrome
Hereditary disorder of nervous system
Multiple system malformation syndrome
Sensory hearing loss
||||||||||
Developmental malformation, deafness, dystonia syndrome (disorder)
Developmental malformation, deafness, dystonia syndrome
This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia.
syndroom van gebrekkige ontwikkeling, doofheid en dystonie
syndroom van misvormingen, doofheid en dystonie
syndroom van malformaties, doofheid en dystonie
Id721092005
StatusPrimitive
Finding siteExtrapyramidal system structure
Finding siteCochlear structure
InterpretsHearing
Associated morphologyMorphologically abnormal structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsMovement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified