|
gptkbp:instance_of
|
gptkb:Genetics
|
|
gptkbp:advocacy
|
active
|
|
gptkbp:affects
|
gptkb:children
|
|
gptkbp:associated_with
|
chromosome 8
behavioral issues
developmental delays
short stature
immune deficiencies
dental problems
|
|
gptkbp:breeding_range
|
8q22.1
|
|
gptkbp:characterized_by
|
obesity
intellectual disability
hypotonia
distinctive facial features
|
|
gptkbp:clinical_trial
|
ongoing
|
|
gptkbp:community_support
|
available
|
|
gptkbp:condition
|
seizures
scoliosis
hypogonadism
|
|
gptkbp:diagnosis
|
genetic testing
clinical evaluation
|
|
gptkbp:educational_resources
|
available
|
|
gptkbp:family_planning
|
important consideration
|
|
gptkbp:first_described_by
|
gptkb:1973
|
|
gptkbp:funding
|
limited
|
|
gptkbp:genetic_studies
|
available
recommended
|
|
gptkbp:genetic_variants
|
identified
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Cohen syndrome
|
|
gptkbp:is_a_basis_for
|
autosomal recessive inheritance
|
|
gptkbp:is_involved_in
|
Cohen Syndrome Association
Cohen Syndrome Foundation
|
|
gptkbp:lifespan
|
varies
|
|
gptkbp:mutation_types
|
various
|
|
gptkbp:named_after
|
Dr. C. Cohen
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:provides_guidance_on
|
developed
|
|
gptkbp:public_awareness
|
gptkb:October
|
|
gptkbp:registration
|
established
|
|
gptkbp:research_focus
|
gptkb:gene_therapy
understanding genetic mutations
symptom management
|
|
gptkbp:research_institutes
|
gptkb:National_Institutes_of_Health
Orphanet
Genetics Home Reference
|
|
gptkbp:support
|
necessary
|
|
gptkbp:symptoms
|
vision problems
hearing loss
multidisciplinary approach
sensitivity to light
|
|
gptkbp:symptoms_progression
|
variable
|
|
gptkbp:treatment
|
physical therapy
occupational therapy
speech therapy
|
|
gptkbp:bfsParent
|
gptkb:Beckwith-Wiedemann_syndrome
|
|
gptkbp:bfsLayer
|
8
|