Disease

developmental and epileptic encephalopathy 31B

Definition

A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.

Synonyms

DEE31B

Cross References

MIM:620352

Parent Terms

autosomal recessive disease
developmental and epileptic encephalopathy

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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