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Chorea, childhood-onset, with psychomotor retardation(COCPMR)

MedGen UID:
934754
Concept ID:
C4310787
Disease or Syndrome
Synonym: COCPMR
 
Gene (location): GPR88 (1p21.2)
 
Monarch Initiative: MONDO:0014839
OMIM®: 616939

Clinical features

From HPO
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Involuntary movements
MedGen UID:
140884
Concept ID:
C0427086
Sign or Symptom
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Abnormal head movements
MedGen UID:
96905
Concept ID:
C0476217
Finding
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Recent clinical studies

Diagnosis

Im DH, Borchert MS, Chang MY
J Neuroophthalmol 2023 Dec 1;43(4):e304-e305. Epub 2021 Dec 16 doi: 10.1097/WNO.0000000000001437. PMID: 34924521
Nagata K, Katayama Y, Sato T, Kwon Y, Kawabata T
J Struct Funct Genomics 2016 Dec;17(4):111-133. Epub 2017 Jan 6 doi: 10.1007/s10969-016-9212-2. PMID: 28063110

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