alopecia, neurologic defects, and endocrinopathy syndrome

Term ID

DOID:0112244

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. https://pubmed.ncbi.nlm.nih.gov/18439547/

References

• MESH:C567425
• OMIM:612079
• ORDO:157954

Ontology

Human Disease   ( DOID:0112244 )