X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with marfanoid habitus
Definition
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
Also known as Lujan syndrome, Lujan-Fryns syndrome, Lujan-Fryns syndrome, X-linked recessive — per MONDO