developmental and epileptic encephalopathy 110

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Definition

A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.

• [1]

Synonyms

• DEE110
• early infantile epileptic encephalopathy 110

Cross References

• MIM:620149

Parent Terms

• autosomal recessive disease
• developmental and epileptic encephalopathy

Child Terms

None

Sources of Associations

• RGD
• MGI
• ZFIN
• FB
• WB
• SGD

Associated Genes

Associated Alleles

Associated Models