autosomal recessive intellectual developmental disorder 57

Term ID

DOID:0081219

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/27616480/

References

• OMIM:617188

Ontology

Human Disease   ( DOID:0081219 )