X-linked intellectual disability, Cantagrel type

Definition

A rare X-linked 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.

Disease data

Classification

Malformation syndrome

ORPHA code

85277

OMIM code

300912

ICD10 code

Q87.8

ICD11 code

*Soruce