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Level 2: Neurology and neurodevelopmental disorders
Version 1.5
Component of the following Super Panels:
Movement Disorders Superpanel
Progressive Neurological Conditions
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1 review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Dystonia (HP:0001332)
- Cervical dystonia (HP:0002481)
- Blepharospasm (HP:0000617)
- Oromandibular dystonia (HP:0007291)
- Laryngeal dystonia (HP:0001593)
- Focal dystonia (HP:0002515)
- Segmental dystonia (HP:0007328)
- Generalized dystonia (HP:0007329)
- Myoclonus (HP:0001336)
- Parkinsonism (HP:0001300)
- Ataxia (HP:0001251)
- External ophthalmoplegia (HP:0000605)
- Sensorineural hearing impairment (HP:0000407)
- Abnormal gait (HP:0001288)
- Tremor (HP:0001337)
- Adult onset (HP:0003581)
- Childhood onset (HP:0011463)
- Family history of dystonia (HP:0032371)
- Autosomal dominant inheritance (HP:0000006)
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