autosomal dominant intellectual developmental disorder 68

Term ID

DOID:0061041

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/33150406/

References

• MIM:619934

Ontology

Human Disease   ( DOID:0061041 )