alopecia, neurologic defects, and endocrinopathy syndrome

info · Syndrome

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.

Signs and symptoms

Motor deterioration
Hypogonadotropic hypogonadism
Carious teeth
Alopecia
Upper motor neuron dysfunction
Central adrenal insufficiency
Small pituitary gland
Delayed puberty
Intellectual disability
Kyphoscoliosis

Also known as: ANE syndrome; ANES; alopecia-progressive neurological defect-endocrinopathy syndrome