intellectual disability-myopathy-short stature-endocrine defect syndrome
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019952
congenital myopathy
is_a
Chudley Rozdilsky syndrome
related
Chudley-Rozdilsky syndrome
exact
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
related