| Domain | Feature | Reported count / denominator | Approx. percentage | Onset/course | Suggested HPO term |
|---|---|---:|---:|---|---|
| Skin | Severe skin fragility/skin tears | 14/15 | 93% | Congenital in 2; predominantly postnatal and may become more apparent with activity/age | Skin fragility (HP:0001030); Skin ulcer (HP:0200042) |
| Eye | Blue sclerae | 13/15 | 87% | Usually congenital or evident in early childhood | Blue sclerae (HP:0000592) |
| Growth | Postnatal growth restriction | 13/15 | 87% | Develops after birth; persistent short stature common | Postnatal growth retardation (HP:0008897) |
| Skin | Soft, doughy skin | 12/15 | 80% | Congenital or early childhood; persistent | Soft skin (HP:0000977) |
| Craniofacial | Epicanthic folds | 12/15 | 80% | Congenital/early childhood | Epicanthus (HP:0000286) |
| Craniofacial | Micrognathia | 12/15 | 80% | Congenital or progressively recognizable in childhood | Micrognathia (HP:0000347) |
| Craniofacial | Large fontanel/delayed closure | 11/15 | 73% | Congenital; closure delayed into childhood | Large fontanelle (HP:0000239); Delayed closure of the anterior fontanelle (HP:0001476) |
| Skin | Sagging or redundant skin | 11/15 | 73% | Often congenital in severe disease; may become more apparent postnatally | Redundant skin (HP:0001582) |
| Musculoskeletal | Joint hypermobility | 11/15 | 73% | Congenital or recognized in early childhood; persistent | Generalized joint hypermobility (HP:0002761) |
| Musculoskeletal/growth | Short limbs, hands, and feet | 11/15 | 73% | Postnatal growth pattern; generally persistent | Short limb (HP:0009826); Short hand (HP:0200055); Short foot (HP:0001773) |
| Hematologic/skin | Easy bruising | 11/15 | 73% | Usually begins in infancy or childhood; recurrent | Easy bruisability (HP:0000978) |
| Development | Delayed motor development | 8/15 | 53% | Infancy/early childhood; variable severity | Motor delay (HP:0001270) |
| Hemorrhagic | Bleeding complications | 7/15 | 47% | Congenital through later childhood; episodic and potentially severe | Abnormal bleeding (HP:0001892) |
| Visceral | Visceral fragility | 5/15 | 33% | Congenital or postnatal; episodic rupture/prolapse complications | Visceral tissue fragility (closest available: HP:0003549) |
| Abdominal wall | Umbilical hernia | 14/15 | 93% | Usually congenital | Umbilical hernia (HP:0001537) |
| Pregnancy/birth | Preterm birth | 9/15 | 60% | Prenatal/perinatal; mean gestational age across 14 individuals was 34 weeks 4 days | Premature birth (HP:0001622) |
| Pregnancy/birth | Preterm premature rupture of membranes (PPROM) | 6/15 | 40% | Prenatal; precedes some preterm deliveries | Premature rupture of membranes (HP:0001788) |
| Demographic | Sex ratio | 11 male:4 female | 73% male; 27% female | Cohort composition, not a phenotype or established sex predisposition | Biological sex (metadata; no disease-phenotype HPO term) |
| Evidence note | Missingness/ascertainment limitation | 15 molecularly confirmed individuals | Not applicable | Blank entries were “not reported”; counts therefore are not strict prevalence estimates | Evidence qualifier: incomplete phenotype ascertainment |
| Source | Van Damme et al., *Genetics in Medicine* (2016), DOI: 10.1038/gim.2015.188 | 15 individuals from 14 families | Not applicable | Published September 2016 | (pqac-00000021, pqac-00000022, pqac-00000023) |


*Table: Key clinical findings in the 15 molecularly confirmed individuals summarized by Van Damme et al. Counts reflect reported observations with incomplete ascertainment, so percentages should not be interpreted as unbiased prevalence estimates.*