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

MIM:249500

Ontology

Human Disease ( DOID:0081177 )

Relationships

is a type of: autosomal recessive intellectual developmental disorder

autosomal recessive intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models