| Item type | Specific item | Quantitative data (with denominator) | Evidence type (human cohort/case series/review) | Key citation details (first author, journal, year, DOI URL) | Notes |
|---|---|---:|---|---|---|
| Identifier | Intellectual developmental disorder, autosomal dominant 7 / MRD7 / DYRK1A syndrome | OMIM **614104** | Human case report / review | Al-Younis, *Front Genet*, 2026, https://doi.org/10.3389/fgene.2026.1813300 (pqac-00000003) | Also referred to as DYRK1A-related intellectual disability syndrome. |
| Synonym | DYRK1A-related intellectual disability syndrome | — | Human review | Meissner, *Mol Genet Genomic Med*, 2020, https://doi.org/10.1002/mgg3.1544 (pqac-00000000) | Rare autosomal dominant condition due to heterozygous pathogenic variants or structural rearrangements involving **DYRK1A**. |
| Synonym | Mental retardation, autosomal dominant 7 | — | Human case report | Oliveira, *Cureus*, 2024, https://doi.org/10.7759/cureus.51451 (pqac-00000000, pqac-00000006) | Older nomenclature still used in case literature. |
| Inheritance | Autosomal dominant | Usually simplex/de novo heterozygous variants | Human cohort / case series | Ji, *Eur J Hum Genet*, 2015, https://doi.org/10.1038/ejhg.2015.71 (pqac-00000014, pqac-00000015) | Most reported patients are de novo; prenatal diagnosis has been reported in families undergoing targeted testing. |
| Mechanism | **DYRK1A** haploinsufficiency / likely gene-disrupting loss-of-function | Predominantly truncating, frameshift, nonsense, splice, exon-level deletions | Human cohort / functional interpretation | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5; Kurtz-Nelson, *Autism Res*, 2023, https://doi.org/10.1002/aur.2995 (pqac-00000001, pqac-00000007) | Core disease mechanism is reduced DYRK1A dosage; many missense variants in catalytic domain are enzymatically inactive. |
| Mechanism | Epigenomic/episignature-supported diagnosis | Positive EpiSign MRD7 episignature in 1 unresolved case | Human case report | Al-Younis, *Front Genet*, 2026, https://doi.org/10.3389/fgene.2026.1813300 (pqac-00000003) | EpiSign helped reclassify a cryptic exon 5 deletion after inconclusive exome testing; useful adjunct when standard testing is nondiagnostic. |
| Phenotype | Microcephaly | **13/14 (92.9%)** | Human case series | Ji, *Eur J Hum Genet*, 2015, https://doi.org/10.1038/ejhg.2015.71 (pqac-00000014, pqac-00000015) | One of the most recognizable features; often postnatal and progressive. |
| Phenotype | Microcephaly | **15/15 (100%)** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000001, pqac-00000012) | In ASD-ascertained disruptive variant cohort. |
| Phenotype | Microcephaly | **>90% of cases** | Human review / case report | Oliveira, *Cureus*, 2024, https://doi.org/10.7759/cureus.51451 (pqac-00000006) | Consistent with earlier syndrome delineation studies. |
| Phenotype | Intellectual disability (ID) | **12/15 moderate-severe (80%)**; **3/15 mild (20%)** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000001, pqac-00000012) | Typically accompanied by major speech/language impairment. |
| Phenotype | Intellectual disability (ID) | **89%** confirmed ID in DYRK1A cohort (**n=29**) | Human cohort | Kurtz-Nelson, *Autism Res*, 2023, https://doi.org/10.1002/aur.2995 (pqac-00000007) | LGD variant cohort focused on ASD phenotype characterization. |
| Phenotype | Autism spectrum disorder (ASD) | **88%** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000001) | ASD is common but syndrome has a distinctive behavioral profile. |
| Phenotype | Autism spectrum disorder (ASD) | **85%** confirmed ASD in DYRK1A cohort (**n=29**) | Human cohort | Kurtz-Nelson, *Autism Res*, 2023, https://doi.org/10.1002/aur.2995 (pqac-00000007) | Social reciprocity, nonverbal communication, and sensory-seeking features emphasized. |
| Phenotype | Seizures / febrile seizures | **9/14 (64.3%)** seizures | Human case series | Ji, *Eur J Hum Genet*, 2015, https://doi.org/10.1038/ejhg.2015.71 (pqac-00000014, pqac-00000015) | Supports frequent but not universal epilepsy risk. |
| Phenotype | Febrile seizures | **77%** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000001, pqac-00000012) | Often early onset. |
| Phenotype | Epilepsy after febrile seizures | **5/15 (33.3%)** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000012) | EEG/neurology follow-up is reasonable in symptomatic patients. |
| Phenotype | Feeding difficulties | **14/14 (100%)** | Human case series | Ji, *Eur J Hum Genet*, 2015, https://doi.org/10.1038/ejhg.2015.71 (pqac-00000014, pqac-00000015) | Very common in infancy; can contribute to growth issues. |
| Phenotype | Feeding difficulties | “Vast majority” | Human review / case report | Oliveira, *Cureus*, 2024, https://doi.org/10.7759/cureus.51451 (pqac-00000006) | Early feeding/swallowing support often needed. |
| Phenotype | Ocular features, any | **90/145 (62.1%)** | Human pooled cohort / literature review | Méjécase, *Genes*, 2021, https://doi.org/10.3390/genes12020234 (pqac-00000008, pqac-00000011) | Ophthalmology referral recommended as part of management to reduce amblyopia/visual comorbidity. |
| Phenotype | Refractive error | **32/90 (35.6%)** among those with ocular findings | Human pooled cohort / literature review | Méjécase, *Genes*, 2021, https://doi.org/10.3390/genes12020234 (pqac-00000008, pqac-00000011) | Includes substantial burden of treatable visual morbidity. |
| Phenotype | Strabismus | **19/90 (21.1%)** among those with ocular findings | Human pooled cohort / literature review | Méjécase, *Genes*, 2021, https://doi.org/10.3390/genes12020234 (pqac-00000008, pqac-00000011) | In DSIA self-report cohort, strabismus was **14/14 (100%)**, but likely enriched/ascertainment-biased (pqac-00000010). |
| Phenotype | Optic nerve hypoplasia | **12/90 (13.3%)** among those with ocular findings | Human pooled cohort / literature review | Méjécase, *Genes*, 2021, https://doi.org/10.3390/genes12020234 (pqac-00000008, pqac-00000011) | Important cause of visual impairment; supports comprehensive eye exam. |
| Phenotype | Ophthalmologic anomalies, any | **27%** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000012) | Bon et al. recommended ophthalmologic evaluation for all affected individuals. |
| Phenotype | Cardiac anomalies | **18%** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000012) | Bon et al. recommended cardiac evaluation for all affected individuals. |
| Phenotype | Stereotypic behaviors | **91%** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000012) | Behavioral/psychiatric support often indicated. |
| Phenotype | Anxiety | **56%** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000012) | Mental health symptoms may emerge with age. |
| Phenotype | Sleep disturbance | ~**50%** | Human case series | Bon, *Mol Psychiatry*, 2016, https://doi.org/10.1038/mp.2015.5 (pqac-00000012) | Sleep review can be useful in routine care. |
| Phenotype | Core symptom cluster in ASD-ascertained cases | **89%** had **≥5** key symptoms | Human cohort | Earl, *Mol Autism*, 2017, https://doi.org/10.1186/s13229-017-0173-5 (pqac-00000002) | Key profile: ID, speech/motor difficulty, microcephaly, feeding difficulty, vision abnormalities. |
| Phenotype | Contribution to ASD population | **0.1–0.5%** of ASD population | Human cohort / review | Earl, *Mol Autism*, 2017, https://doi.org/10.1186/s13229-017-0173-5; Oliveira, *Cureus*, 2024, https://doi.org/10.7759/cureus.51451 (pqac-00000002, pqac-00000006) | Useful prevalence estimate within ASD cohorts rather than general population prevalence. |
| Phenotype | Disease incidence / prevalence rarity | **<1/1,000,000** | Human review / case report | Oliveira, *Cureus*, 2024, https://doi.org/10.7759/cureus.51451 (pqac-00000006) | Very rare disorder; likely underdiagnosed before broad exome/genome testing. |
| Phenotype | Chinese familial/prenatal diagnosis series | **3 probands**, **1 fetus positive** by prenatal testing | Human case series | Huang, *Front Genet*, 2023, https://doi.org/10.3389/fgene.2023.1290949 (pqac-00000004, pqac-00000005) | Illustrates utility of trio-WES, confirmatory testing, prenatal diagnosis, and genetic counseling. |
| Mechanism/Diagnosis | Molecular diagnosis by exome/genome sequencing | WES/WGS identified causal SNV/CNV/deletion in reported cases | Human case reports / cohorts | Huang, *Front Genet*, 2023, https://doi.org/10.3389/fgene.2023.1290949; Al-Younis, *Front Genet*, 2026, https://doi.org/10.3389/fgene.2026.1813300 (pqac-00000003, pqac-00000005) | Real-world workflow: trio-WES ± Sanger/qPCR; if negative or VUS, consider WGS and methylation episignature testing. |


*Table: This table consolidates key identifiers, nomenclature, inheritance/mechanism, and the most consistently reported phenotype frequencies for DYRK1A-related intellectual disability syndrome (MRD7). It highlights human cohort evidence and practical diagnostic/management notes useful for a disease knowledge base.*