glycosylphosphatidylinositol biosynthesis defect 16

Term ID

DOID:0081223

Synonyms

Intellectual developmental disorder, autosomal recessive 62

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/27694521/

References

MIM:617816

Ontology

Human Disease ( DOID:0081223 )

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