autosomal recessive intellectual developmental disorder 1

Term ID

DOID:0081177

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. https://pubmed.ncbi.nlm.nih.gov/12459588/

References

• OMIM:249500

Ontology

Human Disease   ( DOID:0081177 )