Summary of demographic, genetic and clinical characteristics
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | |
|---|---|---|---|---|---|---|
| Demographics (sex, age in years) | Female 12 years | Female 5 years, 11 months | Female 14 years | Female 25 years | Male 34 years | Female 13 years |
| Genetic result | 2p25(4291420–6905655)(hg 19)x1 | 2p25(5511851–16027633)x1 | 2p25(5838893–7023548)(hg19)x1 | 2p25(5535091–16398225)x1 | 2p25(2231163–300707)x1 | 2p25(5209876–8078809)x1 |
| Growth | Height 152 cm (25–50th) Weight 44 kg (75th) OFC 50.4 cm (<3rd) | Height 102.5 cm (<2nd) Weight 14.5 kg (<2nd) OFC 47 cm (<2nd) | Height 158 cm (50th) OFC 52 cm (2nd) | Height 162 cm (25th) Weight 50 kg (10th) OFC 49 cm (<0.4th) | Height 150 cm (3rd) OFC 53 cm (3rd) | Microcephalic |
| Development | Walking—18 months Speech—single words | Walking—22 months Speech—18 months | Walking—20 months Speech—no delay | Severe intellectual disability | Intellectual disability | Speech—delayed |
| Feeding | GORD | GORD | Poor feeding as a neonate | Gastritis | Poor feeding as a neonate | |
| Neurological | Autism | Febrile seizures | Epilepsy Autism | Epilepsy | ||
| Skeletal system | 5th finger clinodactyly 2–3 toe syndactyly scoliosis | 5th finger clinodactyly | 5th finger clinodactyly 2–3 toe syndactyly scoliosis | 5th finger clinodactyly 2–3 toe syndactyly scoliosis | Scoliosis | 5th finger clinodactyly |
| Eye findings | Rt microophthalmia | Hypermetropia | Hypermetropia | |||
| Other | Inverted nipples | Inverted nipples |
| Case 7 | Case 8 | Case 9 | Case 10 | |
|---|---|---|---|---|
| Demographics (sex, age in years) | Female 2 years, 3 months | Female 12 years, 6 months | Male 11 years old | Male 6 years, 10 months |
| Genetic test | 2p25(5166592–6400126)x1 | c.359C>A, p. Pro120His | c.150G>C, p. Lys50Asn | c.87C>A, p. Cys29* Nonsense |
| Growth | Weight 10 kg (2nd) OFC 47.5 cm (50th) | Height 89.4 cm (0.4th) Weight 12.15 kg (0.4th) OFC 46.5 cm (0.4th) | Height 109.4 cm (9th) Weight 18.45 kg (9th) OFC 48.2 cm (0.4th) | Height 124.5 cm (75th) Weight 29 kg (91st) OFC 54 cm (75th) |
| Development | Walking—15 months Speech—single words | Walking—30 months Speech—none | Walking—48 months Speech—36 months | Walking—16 months Speech—significant delay |
| Feeding | Poor feeding as a neonate | Poor feeding as a neonate | Poor feeding as a neonate | |
| Neurological | Autism Absence seizures | |||
| Skeletal system | 5th finger clinodactyly Hypoplasia nail 5th toe | 5th finger clinodactyly Hypoplasia nail 5th toe | 5th finger clinodactyly 2–3 toe syndactyly Hypoplasia nail 5th toe | 5th finger clinodactyly 2–3 toe syndactyly Hypoplasia nail 5th toe |
| Eye findings | Oculomotor apraxia | Hypermetropia | Oculomotor apraxia | |
| Other |