ANE syndrome
ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002051
integumentary system disorder
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0015770
congenital hypogonadotropic hypogonadism
is_a
MONDO:0018762
non-acquired combined pituitary hormone deficiency
is_a
ANE syndrome
exact
alopecia, neurologic defects, and endocrinopathy syndrome
related
alopecia-progressive neurological defect-endocrinopathy syndrome
exact
anes
related
SPBC4F6.14