Dystonia 28, childhood-onset
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (12 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Bulbous nose
- Abnormality of the eye
- Abnormality of eye movement
Abnormality of eye movement
- MedGen UID: 99227
- Concept ID: C0497202
- Finding: Finding
Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Abnormality of eye movement
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Cognitive impairment
Cognitive impairment
- MedGen UID: 90932
- Concept ID: C0338656
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Craniofacial dystonia
Craniofacial dystonia
- MedGen UID: 868612
- Concept ID: C4023011
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Laryngeal dystonia
Laryngeal dystonia
- MedGen UID: 409603
- Concept ID: C1963946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Oromandibular dystonia
Oromandibular dystonia
- MedGen UID: 473560
- Concept ID: C2242577
- Finding: Sign or Symptom
Abnormality of the nervous system
- Retrocollis
Retrocollis
- MedGen UID: 854508
- Concept ID: C3887667
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tip-toe gait
Tip-toe gait
- MedGen UID: 98104
- Concept ID: C0427144
- Finding: Finding
Abnormality of the nervous system
- Torticollis
Torticollis
- MedGen UID: 11859
- Concept ID: C0040485
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cognitive impairment
- Abnormality of the voice
- Dysphonia
Dysphonia
- MedGen UID: 282893
- Concept ID: C1527344
- Finding: Mental or Behavioral Dysfunction
Abnormality of the voice
- Dysphonia
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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