Table 1 Summary of clinical features of subjects with SMARCA2 variants.
NCBRSa | BIS | Nonspecific | |
|---|---|---|---|
Growth parameters | |||
Low birth weight | 33.3% | 36% (5/14) | 0% (0/5) |
Short birth length | 21.2% | 29% (2/7) | 20% (1/5) |
Microcephaly (prenatal) | 23.3% | 30% (3/10) | 0% (0/4) |
Low weight (postnatal) | 52.2% | 29% (4/14) | 17% (1/6) |
Short stature (postnatal) | 53.6% | 25% (3/12) | 0% (0/6) |
Microcephaly (postnatal) | 65.4% | 43% (6/14) | 40% (2/5) |
Neurodevelopmental features | |||
DD/ID | 100% | 100% (14/14) | 83% (5/6) |
Hypotonia | 37.3% | 75% (9/12) | 80% (4/5) |
Seizures | 63.9% | 21% (3/14) | 17% (1/6) |
Hearing loss | 6.8% | 0% (0/13) | 17% (1/6) |
Limb anomalies | |||
Small distal phalanges | 21% | 17% (2/12) | 0% (0/4) |
Joint laxity | 30.8% | 25% (3/12) | 80% (4/5) |
Short metacarpals/metatarsals | 40/10% | 0/0% (0/14) | 0/0% (0/5) |
Prominent interphalangeal joints | 84.5% | 0% (0/12) | 40% (2/5) |
Prominent distal phalanges | 67.8% | 0% (0/12) | 20% (1/5) |
Delayed bone age | 40% | 17% (1/6) | 50% (1/2) |
Scoliosis | 28.3% | 25% (3/12) | 0% (0/5) |
Respiratory infections | 27.1% | 43% (6/14) | 17% (1/6) |
Congenital heart defects | 9.8% | 15% (2/13) | 17% (1/6) |
Feeding problems | 46.9% | 15% (2/13) | 60% (3/5) |
Genital anomalies | 58.8% | 33% (4/12) | 33% (1/3) |
Umbilical and/or inguinal hernia | 45.6% | 0% (0/14) | 20% (1/5) |
Ectodermal anomalies | |||
Body hirsutism/hypertrichosis | 44% | 15% (2/13) | 0% (0/5) |
Increased skin wrinkling | 54.1% | 0% (0/13) | 0% (0/5) |
Fetal finger pads | 41.5% | 0% (0/13) | 50% (2/4) |
Low frontal hairline | 69.7% | 23% (3/13) | 25% (1/4) |
Synophrys | 21.8% | 29% (4/14) | 25% (1/4) |
Thick eyebrows | 67.8% | 7% (1/14) | 75% (3/4) |
Long eyelashes | 86.2% | 14% (2/14) | 50% (2/4) |
Nail a/hypoplasia of hands | 6.1–17.6% | 0% (0/11) | 40% (2/5) |
Nail a/hypoplasia of feet | 6.1–17.6% | 36% (4/11) | 40% (2/5) |
Facial features | |||
Coarse face | 76.6% | 0% (0/14) | 33% (2/6) |
Ptosis | 21.8% | 14% (2/14) | 0% (0/6) |
Narrow palpebral fissures | 15.8% | 71% (10/14) | 0% (0/6) |
Broad nasal bridge | 32.7% | 71% (10/14) | 0% (0/6) |
Sparse scalp hair | 96.7% | 29% (4/14) | 33% (2/6) |
Broad nose | 64.5% | 29% (4/14) | 17% (1/6) |
Upturned nasal tip | 66.7% | 21% (3/14) | 17% (1/6) |
Thick and anteverted alae nasi | 79.7% | 0% (0/149) | 67% (4/6) |
Large mouth | 78.3% | 14% (2/14) | 67% (4/6) |
Thin upper vermillion | 78.3 % | 86% (12/14) | 50% (3/6) |
Thick lower vermillion | 83.3% | 0% (0/14) | 100% (6/6) |
Short philtrum | 13% | 29% (4/14) | 17% (1/6) |
Long philtrum | 61% | 42% (5/12) | 33% (2/6) |
Abnormal ears | 28.8% | 64% (9/14) | 33% (2/6) |
