X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Cantagrel type
Definition
An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
Also known as intellectual disability, X-linked 98, intellectual disability, X-linked type 98, mental retardation, X-linked 98, mental retardation, X-linked type 98, MRX98, X-linked intellectual developmental disorder-98, X-linked intellectual disability-98, XLID98 — per MONDO