| Phenotype (plain language) | Suggested HPO term(s) | Frequency overall and/or by gene | Notes (severity/onset/progression) | Key source |
|---|---|---|---|---|
| Hypertelorism / telecanthus | HP:0000316 Hypertelorism; HP:0000506 Telecanthus | 39/41 (~95%) overall; ACTB 32 cases reported with hypertelorism/telecanthus; ACTG1 7/9 with hypertelorism/telecanthus (~78%) | Typically congenital, part of the characteristic facial gestalt | Verloes 2015 cohort/Table 2 (pqac-00000017, pqac-00000019, pqac-00000041, pqac-00000042, pqac-00000043) |
| Congenital bilateral ptosis | HP:0000508 Ptosis | 37/40 (~93%) overall | Usually congenital and one of the most recognizable presenting signs | Verloes 2015 cohort/Table 2 (pqac-00000016, pqac-00000041, pqac-00000042, pqac-00000043) |
| Arched eyebrows | HP:0002553 Highly arched eyebrow | 35/40 (~88%) overall; ACTG1 6/7; ACTB 29 cases noted | Common dysmorphic facial feature | Verloes 2015 cohort/Table 2 (pqac-00000016, pqac-00000017, pqac-00000041, pqac-00000042, pqac-00000043) |
| Wide, short, upturned nose with broad/flat tip | HP:0012805 Broad nose; HP:0000455 Short nose; HP:0000463 Anteverted nares | 35/41 (~85%) overall | Characteristic facial appearance, present from infancy/childhood | Verloes 2015 cohort/Table 2 (pqac-00000016, pqac-00000019, pqac-00000041, pqac-00000042, pqac-00000043) |
| Long smooth philtrum | HP:0000319 Smooth philtrum; HP:0000343 Long philtrum | 32/38 (~84%) overall | Common facial feature | Verloes 2015 cohort/Table 2 (pqac-00000016, pqac-00000041, pqac-00000042, pqac-00000043) |
| Metopic ridging / trigonocephaly | HP:0000243 Metopic ridging; HP:0000248 Trigonocephaly | 26/40 (~65%) overall | Congenital cranial abnormality; may contribute to prenatal/early childhood recognition | Verloes 2015 cohort/Table 2 (pqac-00000019, pqac-00000041, pqac-00000042, pqac-00000043) |
| Ocular coloboma (iris and/or retina/choroid) | HP:0000589 Coloboma of eye; HP:0000612 Iris coloboma; HP:0000480 Retinal coloboma | 11/40 (~28%) overall; ACTG1 3 cases (~38% of ACTG1 subgroup); ACTB 8 cases (~25% of ACTB subgroup) | Often congenital; may extend posteriorly and affect vision depending on macular/optic disc involvement | Verloes 2015 cohort/Table 2 (pqac-00000016, pqac-00000017, pqac-00000041, pqac-00000042, pqac-00000043) |
| Microphthalmia | HP:0000568 Microphthalmia | 3/31 (~10%) overall | Less common ocular manifestation | Verloes 2015 cohort/Table 2 (pqac-00000016, pqac-00000041, pqac-00000042, pqac-00000043) |
| Ear anomalies | HP:0000356 Abnormality of the outer ear | 30/41 (~73%) overall | Structural ear anomalies are common and may co-occur with hearing loss | Verloes 2015 cohort/Table 2 (pqac-00000017, pqac-00000041, pqac-00000042, pqac-00000043) |
| Sensorineural hearing loss / hearing loss | HP:0000407 Sensorineural hearing impairment; HP:0000365 Hearing impairment | 13/40 (~33%) overall | May be progressive; important for longitudinal audiologic follow-up | Verloes 2015 cohort/Table 2 (pqac-00000017, pqac-00000041, pqac-00000042, pqac-00000043) |
| Pachygyria / lissencephaly spectrum (neuronal migration defect) | HP:0001302 Pachygyria; HP:0001339 Lissencephaly; HP:0002273 Cortical dysplasia | ACTG1 8/9 (~89%); ACTB 17/28–29 (~61%) with pachygyria/lissencephaly reported | Core CNS feature; ACTG1-associated disease appears more strongly associated with migration defects | Verloes 2015 cohort/Table 2 and text summary (pqac-00000017, pqac-00000018, pqac-00000041, pqac-00000042, pqac-00000043) |
| Agenesis of corpus callosum / other midline brain anomalies | HP:0001274 Agenesis of the corpus callosum | Frequency not clearly extractable from provided counts | Part of broader structural brain-malformation spectrum | Verloes 2015 cohort summary (pqac-00000017, pqac-00000019) |
| Band heterotopia / neuronal heterotopia | HP:0002126 Subcortical band heterotopia; HP:0002282 Heterotopia | Frequency not clearly extractable from provided counts | Less common than pachygyria but within the cortical malformation spectrum | Verloes 2015 cohort summary (pqac-00000017, pqac-00000018) |
| Epilepsy / seizures | HP:0001250 Seizure; HP:0002373 Epilepsy | ACTG1 7/8 (~88%); ACTB 13/30 (~43%) | Mean seizure onset approximately 5-6 years in the cohort summary; severity variable | Verloes 2015 cohort/Table 2 (pqac-00000017, pqac-00000041, pqac-00000042, pqac-00000043) |
| Intellectual disability / developmental delay | HP:0001249 Intellectual disability; HP:0001263 Global developmental delay | Severity distribution reported: ACTG1 mild/moderate/severe = 2/2/3; ACTB = 7/11/11 | Developmental impairment ranges from mild to severe and correlates broadly with CNS involvement | Verloes 2015 cohort/Table 2 (pqac-00000017, pqac-00000041, pqac-00000042, pqac-00000043) |
| Delayed walking | HP:0001270 Motor delay | Mean age at walking: ~27 months ACTG1; ~31 months ACTB | Pediatric onset developmental delay | Verloes 2015 cohort (pqac-00000016, pqac-00000017) |
| Delayed first words / speech delay | HP:0000750 Delayed speech and language development | Mean first words: ~43 months ACTG1; ~54 months ACTB | Marked language delay is common | Verloes 2015 cohort (pqac-00000017) |
| Cleft lip and/or palate / high-arched palate | HP:0000204 Cleft upper lip; HP:0000175 Cleft palate; HP:0000218 High palate | Cleft lip/palate in 4 patients overall in one summary; subgroup estimate: ACTG1 1/8, ACTB 7/29 reported in another summary; highly arched palate common | Congenital; frequency varies across table/text summaries, so use as approximate | Verloes 2015 cohort summary/Table 2 (pqac-00000016, pqac-00000017, pqac-00000041, pqac-00000042, pqac-00000043) |
| Cardiac defects | HP:0001627 Abnormality of the cardiovascular system | Uncommon; approximate subgroup counts reported as ACTG1 1 case, ACTB 11 cases in extracted summary | Congenital but not universal; phenotype is variable | Verloes 2015 cohort summary (pqac-00000017, pqac-00000018) |
| Renal tract anomalies | HP:0000077 Abnormality of the kidney; HP:0012210 Abnormality of the urinary system | Present in some cases; no stable count extractable from provided evidence | Secondary/systemic involvement rather than defining feature | Verloes 2015 cohort summary (pqac-00000018) |
| Reduced shoulder-girdle muscle bulk / progressive joint stiffness | HP:0003551 Muscle atrophy; HP:0001387 Joint stiffness | Frequency not clearly extractable from provided counts | Can become progressive over time and contribute to disability | Verloes 2015 cohort summary (pqac-00000018) |
| Microcephaly developing over time | HP:0000252 Microcephaly | Not consistently present at birth; frequency not clearly extractable | May evolve postnatally rather than being congenital in all patients | Verloes 2015 cohort summary (pqac-00000018) |


*Table: This table summarizes major clinical features of Baraitser–Winter cerebrofrontofacial syndrome using approximate frequencies from the 42-case Verloes et al. 2015 cohort, with suggested HPO mappings. It is useful for structured phenotype curation and for comparing ACTB- versus ACTG1-associated presentations.*