autosomal recessive intellectual developmental disorder 52

Term ID

DOID:0081215

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/26566883/

References

• OMIM:616887

Ontology

Human Disease   ( DOID:0081215 )