Metadata | |
---|---|
ID | DOID:0081223 |
Name | glycosylphosphatidylinositol biosynthesis defect 16 |
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/ |
Xrefs | |
Synonyms |
Intellectual developmental disorder, autosomal recessive 62 [EXACT] |
Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |