disease 1,531 words KG: ent-dise-e99318e1 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Intellectual Disability

Disease Info
Mild ID (IQ 50-70)Individuals may have delayed language and learning difficulties but can achieve independence in daily living with support
Moderate ID (IQ 35-50)Requires more support for academic, vocational, and daily living skills
Severe ID (IQ 20-35)Significant support needs for all daily activities
Profound ID (IQ <20)Continuous support required for all aspects of life
EpilepsyOccurs in 15-30% of individuals with ID, with certain genetic etiologies having particularly high epilepsy risk
Autism spectrum disorderApproximately 30-40% of individuals with ID meet criteria for ASD
Cerebral palsyCommon in individuals with ID due to shared prenatal/perinatal risk factors
Sensory impairmentsVision and hearing deficits are more common
Fragile X syndrome (FXS)Caused by CGG repeat expansion in the FMR1 gene, leading to transcriptional silencing. FXS is the most common inherited cause of ID and the leading single-gene cause of autism.
Synaptic scaffoldingSHANK2, SHANK3, DLGAP1, DLGAP2
Synaptic receptorsGRIN2A, GRIN2B (NMDA receptor subunits)
Presynaptic proteinsSYNGAP1, STXBP1, MUNC18-1
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (30)

Selective Acid Sphingomyelinase Modulation Therapy
Score: 0.65
Circadian Glymphatic Entrainment via Targeted Orexin Recepto
Score: 0.62
Senescence-Associated Myelin Lipid Remodeling
Score: 0.51
Aquaporin-4 Polarization Rescue
Score: 0.51
Autophagosome Maturation Checkpoint Control
Score: 0.49

Related Analyses (13)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed
4R-tau strain-specific spreading patterns in PSP vs CBD
neurodegeneration · archived
Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived

Related Experiments (2)

Cytochrome Therapeutics
clinical · proposed · Score: 0.40
FXTAS Phenotypic Penetrance: Why Only 40% of FMR1 Premutatio
validation · proposed · Score: 0.40