gptkbp:instance_of
|
gptkb:physicist
|
gptkbp:bfsLayer
|
6
|
gptkbp:bfsParent
|
gptkb:Beckwith-Wiedemann_syndrome
|
gptkbp:advocates_for
|
active
|
gptkbp:affects
|
gptkb:Person
|
gptkbp:associated_with
|
chromosome 8
behavioral issues
developmental delays
short stature
immune deficiencies
dental problems
|
gptkbp:clinical_trial
|
ongoing
|
gptkbp:community_support
|
gptkb:stock_market_index
|
gptkbp:current_use
|
seizures
scoliosis
hypogonadism
|
gptkbp:first_described_by
|
gptkb:1973
|
gptkbp:genetic_diversity
|
gptkb:stock_market_index
various
recommended
identified
|
gptkbp:gestation_period
|
important consideration
|
gptkbp:habitat
|
8q22.1
|
https://www.w3.org/2000/01/rdf-schema#label
|
Cohen syndrome
|
gptkbp:is_a_basis_for
|
autosomal recessive inheritance
|
gptkbp:is_a_resource_for
|
gptkb:stock_market_index
|
gptkbp:is_characterized_by
|
obesity
intellectual disability
hypotonia
distinctive facial features
|
gptkbp:is_involved_in
|
Cohen Syndrome Association
Cohen Syndrome Foundation
|
gptkbp:is_popular_in
|
rare
|
gptkbp:lifespan
|
varies
|
gptkbp:named_after
|
Dr. C. Cohen
|
gptkbp:provides_information_on
|
developed
|
gptkbp:public_awareness
|
gptkb:October
|
gptkbp:receives_funding_from
|
limited
|
gptkbp:registration
|
established
|
gptkbp:research_areas
|
gptkb:Research_Institute
Orphanet
Genetics Home Reference
|
gptkbp:research_focus
|
gptkb:physicist
understanding genetic mutations
symptom management
|
gptkbp:social_responsibility
|
genetic testing
clinical evaluation
|
gptkbp:supports
|
necessary
|
gptkbp:symptoms
|
variable
vision problems
hearing loss
multidisciplinary approach
sensitivity to light
|
gptkbp:treatment
|
physical therapy
occupational therapy
speech therapy
|