Developmental disability
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Summary
Developmental disability (MONDO:0005287) is a disease (an umbrella term covering 5 Mondo subtypes) with 3 GWAS associations across 7 studies and 97 clinical trials. Top therapeutic interventions include deutetrabenazine, metformin, and nabilone. A subtype of nervous system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 3
- Clinical trials: 97
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | developmental disability |
| Mondo ID | MONDO:0005287 |
| EFO | EFO:0003852 |
| MeSH | D002658 |
| Is cancer (heuristic) | no |
Data availability: 3 GWAS associations (7 studies).
Disease family
This is a subtype of nervous system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › developmental disability
Related subtypes (71): congenital nervous system disorder, central nervous system disorder, autoimmune disorder of the nervous system, cranial nerve neuropathy, peripheral nervous system disorder, neuronitis, diplegia of upper limb, retinal disorder, restless legs syndrome, movement disorder, toxic encephalopathy, Barre-Lieou syndrome, Gerstmann syndrome, drug-induced akathisia, drug-induced dyskinesia, stiff-person syndrome, Worster-Drought syndrome, corneal-cerebellar syndrome, pachygyria-intellectual disability-epilepsy syndrome, porencephaly-cerebellar hypoplasia-internal malformations syndrome, symmetrical thalamic calcifications, neonatal brainstem dysfunction, primary orthostatic hypotension, rippling muscle disease with myasthenia gravis, periodic paralysis, qualitative or quantitative protein defects in neuromuscular diseases, specific learning disability, cerebellar hypoplasia-tapetoretinal degeneration syndrome, locked-in syndrome, dopa-responsive dystonia, idiopathic recurrent stupor, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, spontaneous periodic hypothermia, Sydenham chorea, duplication of the pituitary gland, Balint syndrome, paraneoplastic neurologic syndrome, persistent idiopathic facial pain, serotonin syndrome, hypothalamic adipsic hypernatraemia syndrome, exercise-induced malignant hyperthermia, perineural cyst, neuromuscular disease, neuromyelitis optica, AL amyloidosis, AA amyloidosis, neuroleptic malignant syndrome, infectious disorder of the nervous system, central nervous system malformation, synaptopathy, nervous system neoplasm, sensory ganglionopathy, radiculitis, wet beriberi, perceptual disorders, prepubertal anorexia nervosa, neurocutaneous syndrome, neurovascular disorder, Wallerian degeneration, nervous system injury, neurosarcoidosis, neuroendocrine disorder, tubulinopathy, atactic disorder, hereditary neurological disease, meningitis-retention syndrome, KIF1A related neurological disorder, neurological pain disorder, neurodevelopmental disorder, post 5-alpha-reductase inhibitors treatment syndrome, post-selective serotonin reuptake inhibitor sexual dysfunction
Subtypes (5): radioulnar synostosis-developmental delay-hypotonia syndrome, osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome, psychosocial short stature, bagatelle Cassidy syndrome, Chitty Hall Webb syndrome
Genetics & variants
GWAS landscape
3 GWAS associations across 7 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs554999570 | 1e-12 | GEMIN2P2 - TRAK1 | C | 2.73 |
| rs187506547 | 2e-08 | BICC1 | ? | |
| rs1479851971 | 4e-08 | LINC02052 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481833 | Verma A | 2024 | 12,727 | 434,358 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651553 | Liu TY | 2025 | 3,001 | 228,977 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90481831 | Verma A | 2024 | 1,815 | 57,429 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480764 | Verma A | 2024 | 1,416 | 119,700 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481832 | Verma A | 2024 | 1,416 | 119,700 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651663 | Liu TY | 2025 | 1,185 | 228,977 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90435883 | Zhou W | 2018 | 77 | 408,378 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs554999570 | 3 | 41996950 | C>T | 0 | intergenic_variant | GEMIN2P2 - TRAK1 | 1e-12 | Tier 4: intronic/intergenic |
| rs187506547 | 10 | 58715359 | T>A,C | intron_variant | BICC1 | 2e-08 | Tier 4: intronic/intergenic | |
| rs1479851971 | 3 | 186486528 | A>G | 0.05 | intron_variant | LINC02052 | 4e-08 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
0 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Clozapine | Phase 3 (in late-stage trials) |
| Olanzapine | Phase 3 (in late-stage trials) |
| Risperidone | Phase 3 (in late-stage trials) |
Clinical trials & evidence
Clinical trials
Clinical trials: 97.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 85 |
| PHASE4 | 4 |
| PHASE1 | 3 |
| PHASE3 | 2 |
| PHASE2 | 2 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT00207935 | PHASE4 | COMPLETED | Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT00261508 | PHASE3 | COMPLETED | A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) |
| NCT01161108 | PHASE3 | COMPLETED | Trial of Melatonin to Improve Sleep in Children With Epilepsy and Neurodevelopmental Disabilities |
| NCT00723151 | PHASE2 | COMPLETED | Effects of Intensity of Early Communication Intervention |
| NCT04047355 | PHASE2 | COMPLETED | Propranolol for Challenging Behaviors in Autism |
| NCT00110292 | PHASE1 | UNKNOWN | Preventing Learning Problems in Young Children: A Public Health and Physician-Based Outreach |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT05935982 | EARLY_PHASE1 | COMPLETED | Virtual Reality Exercise in a Community Highschool for Children With Disabilities |
| NCT03586258 | Not specified | RECRUITING | Neuropsychological and Brain Medical Imaging Study in Patients With Brain Damage 2 |
| NCT03770832 | Not specified | ACTIVE_NOT_RECRUITING | Wearable Sensors and Video Recordings to Monitor Motor Development |
| NCT04026386 | Not specified | RECRUITING | A Center Based Early Intervention Program For Preschoolers With Developmental Disorders |
| NCT05201534 | Not specified | RECRUITING | Interventions in Mathematics and Cognitive Skills |
| NCT05336955 | Not specified | ACTIVE_NOT_RECRUITING | Evaluation of Telehealth Services on Mental Health Outcomes for People With Intellectual and Developmental Disabilities |
| NCT05849285 | Not specified | RECRUITING | Evaluation of the Transitional and Lifelong Care Program |
| NCT05987761 | Not specified | RECRUITING | PRT for Adolescents With High Functioning Autism |
| NCT06407219 | Not specified | RECRUITING | Evaluating the Impacts of a Single Session of Robot Assisted Gait Training With a Trexo |
| NCT06458959 | Not specified | ACTIVE_NOT_RECRUITING | Exploratory Trial of a Pediatric Web-Based Care Planning Guide |
| NCT06532721 | Not specified | RECRUITING | Child Development and Genetic Biomarkers(II): Gene Verification and Data Integration |
| NCT06668519 | Not specified | RECRUITING | Magnetoencephalography in Children |
| NCT06764810 | Not specified | RECRUITING | Association Between Motor Skills and Sensory Profiles in Children With Typical and Atypical Development Aged 4 to 11 Years |
| NCT06771284 | Not specified | RECRUITING | Problem Behavior Assessment and Intervention in IDEA Part C Services |
| NCT06783101 | Not specified | RECRUITING | Using a Smart Inhaler to Support Asthma Management in Adolescents With Intellectual and Developmental Disabilities |
| NCT07092852 | Not specified | NOT_YET_RECRUITING | PGx Medication Safety Reviews of Persons With IDD |
| NCT07118293 | Not specified | ENROLLING_BY_INVITATION | Developing and Examine the Efficacy of the Family-Centered Multi-Sensory Environment Intervention on Parent’s Empowerment and Children’s Engagement (MSE-PEACE) in Children With Developmental Disabilities and Their Parents: A Mixed Methods Study |
| NCT07176481 | Not specified | ACTIVE_NOT_RECRUITING | Diné Parents Taking Action Trial |
| NCT07220590 | Not specified | NOT_YET_RECRUITING | Implementing Powered Mobility in Early Childhood Settings for Children With Cerebral Palsy |
| NCT07220837 | Not specified | RECRUITING | Online Learning Module to Advance Research Related to People With Disabilities |
| NCT07316387 | Not specified | ENROLLING_BY_INVITATION | Neurobehavioral Development in Toddlers and Preschoolers in Relation to Prenatal Exposure of Mild Analgesics (NeuroToP - a COPANA Follow up) |
| NCT07459010 | Not specified | NOT_YET_RECRUITING | ACT Dad’s Power: Feasibility RCT for Fathers of Children With Special Needs |
| NCT07475117 | Not specified | NOT_YET_RECRUITING | Health Engagement & Access Through Learning, Training, and Health-coaching With People With Intellectual and/or Developmental Disabilities |
| NCT07505121 | Not specified | NOT_YET_RECRUITING | Comparing the Impact of Peer Support vs. Staff-Delivered Transportation Interventions for Young Adults With Intellectual and Developmental Disabilities. |
| NCT07505381 | Not specified | RECRUITING | Behavioral Parent Training to Address Early Childhood Disruptive Behavior Using the Helping Our Toddlers, Developing Our Children’s Skills (HOT DOCS) Program and the Developing Our Children’s Skills Kindergarten-5th Grade (DOCS K-5) Program |
| NCT07524192 | Not specified | RECRUITING | A Self-Instructional Online Program for Early Childhood and Elementary Teachers Supporting Autistic Children and Children With Developmental Delays |
| NCT07591636 | Not specified | NOT_YET_RECRUITING | ACT Dad Interview: ACT for Fathers of Children With Special Needs |
| NCT00106652 | Not specified | COMPLETED | Childhood Autism Risks From Genetics and the Environment (The CHARGE Study) |
| NCT00161135 | Not specified | COMPLETED | Magnetic Resonance Imaging in Children and Adolescents With Autism and Multiple Complex Developmental Disorders |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| DEUTETRABENAZINE | 4 | 1 |
| METFORMIN | 4 | 1 |
| NABILONE | 4 | 1 |
| VALBENAZINE | 4 | 1 |
Related Atlas pages
- Drugs: Deutetrabenazine, Metformin, Nabilone, Valbenazine