Version: 8.0.0
Date: Tue Jan 28 2025
alopecia, neurologic defects, and endocrinopathy syndrome
DOID:0112244
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

alopecia, neurologic defects, and endocrinopathy syndrome

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.
Synonyms
  • alopecia-progressive neurological defect-endocrinopathy syndrome
  • ANE syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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