Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)

Go to external page http://snomed.info/id/1197591008


This is just here as a test because I lose it

Term information

definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behaviour during sleep have also been reported.

prefLabel

Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome

Term relations

Subclass of: