Name Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Synonyms CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET , IBGC, CHILDHOOD-ONSET , STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET
Classification genetic, immunological, neurological, rheumatological of childhood, sucking/swallowing, systemic and rheumatological
Phenotypes Abnormality of extrapyramidal motor function; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcification of the small brain vessels; Decreased body weight; Dense calcifications in the cerebellar dentate nucleus; Dolichocephaly; Dysarthria; Global developmental delay; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Limb joint contracture; Microcephaly; Seizure; Short stature; Spasticity; Tetraplegia
Associated Genes -
Mouse Orthologs -
Source
OMIM:114100 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)