autosomal recessive intellectual developmental disorder 59

Term ID

DOID:0081221

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/26416544/

References

MIM:617323

Ontology

Human Disease ( DOID:0081221 )

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