Term Name: autosomal dominant intellectual developmental disorder 55
Synonyms: autosomal dominant intellectual developmental disorder-55 with seizures, autosomal dominant mental retardation 55
Definition: An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.
Ontology: Human Disease [DOID:0080227]   ( DOID:0080227 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder