autosomal recessive intellectual developmental disorder 41

Term ID

DOID:0081206

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/25847626/

References

MIM:615637

Ontology

Human Disease ( DOID:0081206 )

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