Term information
A rare partial autosomal trisomy characterised by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioural abnormalities.
A rare partial autosomal trisomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
Term relations
- Autosomal dominant hereditary disorder (disorder)
- Neurodevelopmental disorder (disorder)
- Multiple malformation syndrome with facial defects as major feature (disorder)
- Intelligence finding (finding)
- Trisomy and partial trisomy of autosome (disorder)
- Neurodevelopmental disorder (disorder) and Multiple malformation syndrome with facial defects as major feature (disorder) and Trisomy and partial trisomy of autosome (disorder) and Autosomal dominant hereditary disorder (disorder) and Intelligence finding (finding) and Role group (attribute) some (
Associated morphology (attribute) some Partial trisomy (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Chromosome pair 11 (cell structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Partial trisomy (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Short arm of chromosome (cell 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 (
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))