Disease: Basal Ganglia Calcification, Idiopathic, Childhood-Onset

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; Seizures; 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)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

No mouse models associated with OMIM:114100 by orthology to a human gene.

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