neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Term ID

DOID:0070443

Synonyms

Definition

An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. (2)

References

• OMIM:619333

Ontology

Human Disease   ( DOID:0070443 )