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 )

Relationships
is a type of: autosomal recessive disease syndrome