| Phenotype | HPO term(s) | Reported frequency/quantitative data | Key source citation IDs |
|---|---|---|---|
| Developmental delay / intellectual disability | HP:0001263 Global developmental delay; HP:0001249 Intellectual disability | 8/9 in the 2023 cohort had global developmental delay/ID; literature review cited DD/ID in ~79% of affected individuals; severity often mild-to-moderate but variable | (pqac-00000002, pqac-00000004, pqac-00000001, pqac-00000011) |
| Infantile hypotonia | HP:0001252 Hypotonia; HP:0008947 Infantile muscular hypotonia | 4/9 in one extracted cohort; another 2023 abstract reported 6/9; broader literature frequency cited as 27%; typically infancy/early childhood onset | (pqac-00000002, pqac-00000003, pqac-00000005) |
| Autism spectrum disorder / behavioral abnormalities | HP:0000729 Autism; HP:0007018 Attention deficit hyperactivity disorder; HP:0000734 Repetitive behavior; HP:0000718 Aggressive behavior; HP:0000752 Hyperactivity | Behavior abnormalities ~79% in literature summary; autism ~30%; repetitive behavior 24%; hyperactivity 15%; aggression 12%; delayed social skills 10%; ADD 9%; in 2023 cohort 5/9 had behavior disorders and 1/9 had autism | (pqac-00000004, pqac-00000002, pqac-00000003) |
| Brachydactyly type E / brachymetaphalangy | HP:0005863 Brachydactyly syndrome, type E; HP:0006058 Brachymetaphalangy | 8/9 had skeletal anomalies especially brachydactyly type E in one 2023 cohort; literature cited brachydactyly in ~50–62%; 103-patient review cited BDE in 48% | (pqac-00000002, pqac-00000004, pqac-00000001, pqac-00000011) |
| Short stature | HP:0004322 Short stature | 7/9 in one 2023 cohort; another 2023 series emphasized unexpectedly frequent short stature 5/9 versus literature ~22%; 103-patient review cited 22% | (pqac-00000002, pqac-00000004, pqac-00000001) |
| Obesity / overweight | HP:0001513 Obesity; HP:0025502 Overweight | 2/9 obese in one 2023 cohort; overweight/obesity is a recognized syndrome feature; 103-patient review cited obesity in affected individuals and early literature described obesity with age | (pqac-00000002, pqac-00000003, pqac-00000001, pqac-00000014, pqac-00000016) |
| Seizures | HP:0001250 Seizure | Literature frequency cited as 16%; also listed among core syndrome manifestations in HDAC4-related BDMR descriptions; variable presence | (pqac-00000005, pqac-00000006, pqac-00000011) |
| Congenital heart defects / septal defects | HP:0001627 Abnormality of the cardiovascular system; HP:0011675 Congenital heart defect; HP:0001629 Ventricular septal defect; HP:0001631 Atrial septal defect | 4/9 in 2023 cohort had heart defects, especially septal defects; broader literature frequency ~16–20%; family with HDAC4 missense variant had mild cardiac anomalies in 3/4 affected individuals | (pqac-00000000, pqac-00000005, pqac-00000001, pqac-00000003, pqac-00000011) |
| Craniosynostosis | HP:0001363 Craniosynostosis | Rare; reported in 1/9 in the 2023 cohort and noted as phenotype expansion in syndromic craniosynostosis work | (pqac-00000003, pqac-00000004) |
| Renal anomalies | HP:0012210 Abnormal renal morphology; HP:0000077 Abnormality of the kidney | Two cases with renal abnormalities reported in the extracted 2023 series; specific lesion types not fully quantified in available excerpts | (pqac-00000015, pqac-00000000) |
| Gastrointestinal anomalies | HP:0000008 Abnormality of the abdomen; HP:0001537 Umbilical hernia; HP:0000023 Inguinal hernia; HP:0002586 Intestinal malrotation; HP:0002247 Duodenal stenosis; HP:0002023 Anorectal malformation | Reported spectrum in 2023 cohort included umbilical/inguinal hernia, intestinal malrotation, duodenal stenosis, and anorectal malformation; frequency not fully resolved in excerpted data | (pqac-00000015, pqac-00000000) |
| Facial dysmorphism: broad/round face | HP:0011220 Broad face; HP:0000311 Round face | Broad/round face reported in 40–41% of reviewed cases; facial dysmorphism present in 9/9 in one 2023 cohort and ~86% in literature summaries | (pqac-00000003, pqac-00000004, pqac-00000001) |
| Facial dysmorphism: frontal bossing | HP:0002007 Frontal bossing | ~33–35% in literature summaries/reviews | (pqac-00000003, pqac-00000001) |
| Facial dysmorphism: arched/bushy eyebrows | HP:0002553 Highly arched eyebrow; HP:0000574 Thick eyebrow | Characteristic facial feature; bushy eyebrows highlighted in 2023 series as notable/common, though exact cohort-wide percentage not given in excerpt | (pqac-00000004) |
| Facial dysmorphism: short nose / V-shaped nasal tip | HP:0003196 Short nose; HP:0011800 Broad nasal tip / HP:0000455 Broad nose (approximate); HP:0011831 Anteverted nares (if present) | Short nose reported in 17% of reviewed cases; V-shaped nasal tip highlighted in 2013 spectrum update | (pqac-00000001, pqac-00000016) |
| Facial dysmorphism: smooth philtrum / thin upper lip | HP:0000319 Smooth philtrum; HP:0000219 Thin upper lip vermilion | Recognized recurrent facial gestalt; percentages not consistently provided in extracted excerpts | (pqac-00000016) |
| Telangiectasia / translucent skin | HP:0001009 Telangiectasia; HP:0000963 Abnormality of skin transparency | 6/9 in the 2023 cohort had translucent skin and telangiectasias; presented as relatively novel/underreported features | (pqac-00000003, pqac-00000005) |
| Fat pad / hump of upper thorax | HP:0033759 Increased subcutaneous truncal adipose tissue (approximate); HP:0001511 Thoracic kyphosis not appropriate; descriptive phenotype only | 5/9 in the 2023 cohort had a “hump of fat on the upper thorax”; appears novel/underreported and no exact standard HPO term matches perfectly | (pqac-00000003, pqac-00000005) |
| Hypothyroidism | HP:0000821 Hypothyroidism | In the 2023 HDAC4 missense family, 2/4 affected individuals had hypothyroidism; literature review of 103 BDMR patients cited 5% | (pqac-00000001, pqac-00000006) |
| High-arched palate | HP:0000218 High palate | Oral/dental review noted high-arched palate in ~20% | (pqac-00000007) |
| Tooth agenesis | HP:0009804 Tooth agenesis | Reported in dental/oral case literature for 2q37 deletion syndrome; no robust syndrome-wide frequency available in extracted sources | (pqac-00000007) |
| Enamel hypomineralization | HP:0011064 Enamel hypoplasia / hypomineralization (approximate) | Reported among dental findings in oral management literature; prevalence not established | (pqac-00000007) |


*Table: This table maps major clinical findings reported for 2q37 deletion syndrome/BDMR to suggested HPO terms and summarizes available frequencies or quantitative notes from the extracted literature. It is useful for phenotype annotation and knowledge-base curation.*