Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
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Term information
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.
Term relations
- Multiple malformation syndrome with facial-limb defects as major feature (disorder)
- Strabismus (disorder)
- Severe intellectual disability (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Severe intellectual disability (disorder) and Multiple malformation syndrome with facial-limb defects as major feature (disorder) and Strabismus (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Morphologically abnormal structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Eye region structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Morphologically abnormal structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Face structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Planovalgus (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Foot structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Has interpretation (attribute) some Impaired (qualifier value) and
Interprets (attribute) some Intellectual ability (observable entity)) and Role group (attribute) some (
Has interpretation (attribute) some Impaired (qualifier value) and
Interprets (attribute) some Adaptation behavior (observable entity))