Early-onset parkinsonism-intellectual disability syndrome
- Synonyms
- BASAL GANGLION DISORDER WITH MENTAL RETARDATION; Basal ganglia disorder with mental retardation; Laxova Brown Hogan syndrome; Parkinsonism, early onset with mental retardation; Waisman Syndrome; X-linked recessive basal ganglia disorder with mental retardation
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (14 available)
Clinical features
Help- Abnormality of the musculoskeletal system
- Cogwheel rigidity
Cogwheel rigidity
- MedGen UID: 57469
- Concept ID: C0151564
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Cogwheel rigidity
- Abnormality of the nervous system
- Bradykinesia
Bradykinesia
- MedGen UID: 115925
- Concept ID: C0233565
- Finding: Sign or Symptom
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dyskinesia
Dyskinesia
- MedGen UID: 8514
- Concept ID: C0013384
- Finding: Disease or Syndrome
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
- Lewy bodies
Lewy bodies
- MedGen UID: 43126
- Concept ID: C0085200
- Finding: Cell Component
Abnormality of the nervous system
- Megalencephaly
Megalencephaly
- MedGen UID: 65141
- Concept ID: C0221355
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Parkinsonian disorder
Parkinsonian disorder
- MedGen UID: 66079
- Concept ID: C0242422
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication
- MedGen UID: 375989
- Concept ID: C1846868
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Poor speech
Poor speech
- MedGen UID: 341172
- Concept ID: C1848207
- Finding: Finding
Abnormality of the nervous system
- Postural instability
Postural instability
- MedGen UID: 334529
- Concept ID: C1843921
- Finding: Finding
Abnormality of the nervous system
- Resting tremor
Resting tremor
- MedGen UID: 66697
- Concept ID: C0234379
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Shuffling gait
Shuffling gait
- MedGen UID: 68545
- Concept ID: C0231688
- Finding: Finding
Abnormality of the nervous system
- Bradykinesia
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