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X-linked intellectual disability, Cantagrel type

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description X-linked Mental retardation Cantagrel type is characterised 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.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRX98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.
Mondo Term and Equivalent IDs
MONDO:0010483:  X-linked intellectual disability, Cantagrel type
Orphanet:85277: 
SCTID:719016007: 
UMLS:C3806730: