DISEASE: Cerebellar hypoplasia, epilepsy, and global developmental delay
Entry
H02431 Disease
Name
Cerebellar hypoplasia, epilepsy, and global developmental delay
Description
Cerebellar hypoplasia, epilepsy, and global developmental delay (CHEGDD) is an early-onset autosomal recessive neurological disease. CHEGDD is characterized by severe global developmental delay, intellectual disability, language delay, cerebellar atrophy, and seizures. It has been reported that loss-of-function mutations in the OXR1 gene are associated with this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02431 Cerebellar hypoplasia, epilepsy, and global developmental delay
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM
Title
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
