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

• OMIM:617816

Ontology

Human Disease   ( DOID:0081223 )