| Term Name: | alopecia, neurologic defects, and endocrinopathy syndrome |
|---|---|
| Synonyms: | alopecia-progressive neurological defect-endocrinopathy syndrome, ANE syndrome, ANES |
| Definition: | A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. |
| Ontology: | Human Disease [DOID:0112244] ( DOID:0112244 ) |