neurodevelopmental disorder with hypotonia, epilepsy, and absent speech

Term ID

DOID:0061252

Synonyms

Definition

An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/41125872/

References

• MIM:621455

Ontology

Human Disease   ( DOID:0061252 )