Disease #06779 (CHEGDD (Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay), OMIM:213000)

Official abbreviation CHEGDD
Name Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
OMIM ID 213000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene OXR1
Associated tissues -
Disease features -
Remarks -