X-linked intellectual disability, van Esch type
X-linked intellectual disability, van Esch type
Definition
X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.
Also known as mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type, Van Esch-O'Driscoll syndrome, Van Esch-O'Driscoll syndrome, X-linked recessive, VEODS — per MONDO