alopecia, neurologic defects, and endocrinopathy syndrome (DOID:0112244)
Alliance: disease page
Synonyms: alopecia-progressive neurological defect-endocrinopathy syndrome; ANE syndrome; ANES
Alt IDs: OMIM:612079, MESH:C567425, ORDO:157954
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.