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Globus pallidus calcification

MedGen UID:
1642590
Concept ID:
C4703448
Disease or Syndrome
HPO: HP:0031627

Definition

Pathological deposition of calcium salts in the globus pallidus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlobus pallidus calcification

Conditions with this feature

Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
MedGen UID:
1841001
Concept ID:
C5830365
Disease or Syndrome
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS), is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Affected individuals have significant speech delay, and most demonstrate behavioral abnormalities, including autistic features. About half of patients develop seizures, which may be controlled or refractory. More variable features include hypotonia, feeding difficulties, and subtle facial dysmorphism (Schalk et al., 2022).

Professional guidelines

PubMed

Eskreis-Winkler S, Zhang Y, Zhang J, Liu Z, Dimov A, Gupta A, Wang Y
NMR Biomed 2017 Apr;30(4) Epub 2016 Dec 1 doi: 10.1002/nbm.3668. PMID: 27906525

Recent clinical studies

Etiology

Huang S, He Y, Lin X, Sun S, Zheng F
BMC Endocr Disord 2022 Apr 11;22(1):98. doi: 10.1186/s12902-022-01011-9. PMID: 35410271Free PMC Article

Diagnosis

Huang S, He Y, Lin X, Sun S, Zheng F
BMC Endocr Disord 2022 Apr 11;22(1):98. doi: 10.1186/s12902-022-01011-9. PMID: 35410271Free PMC Article
Okano S, Takeuchi Y, Kohmura E, Yoshioka H, Sawada T
Pediatr Neurol 1992 Jan-Feb;8(1):72-4. doi: 10.1016/0887-8994(92)90058-7. PMID: 1532715

Prognosis

Okano S, Takeuchi Y, Kohmura E, Yoshioka H, Sawada T
Pediatr Neurol 1992 Jan-Feb;8(1):72-4. doi: 10.1016/0887-8994(92)90058-7. PMID: 1532715

Supplemental Content

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