Disease #06531 (IBGC8 (Basal ganglia calcification, idiopathic, 8, autosomal recessive), OMIM:618824)

Official abbreviation	IBGC8
Name	Basal ganglia calcification, idiopathic, 8, autosomal recessive
OMIM ID	618824
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	JAM2
Associated tissues	-
Disease features	onset adulthood; no microcephaly; no cataracts; no facial dysmorphisms; developmental delay; rare seizures; spasticity; no hypotonia; intracranial calcifications; no intracranial hemorrhage; no ventriculomegaly; no corpus callosum anomalies; no hepatomegaly; no renal anomalies
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	2023-03-31 19:39:23 +02:00 (CEST)

Global Variome shared LOVD