Term Name: | alopecia, neurologic defects, and endocrinopathy syndrome |
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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 ) |