SMARCB1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 2/4 |
| Female | 50.0% | 2/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 25.0% | 1/4 |
| < P3 : Birth length less than 3rd percentile | 25.0% | 1/4 |
| Birth Weight abnormalities | 75.0% | 3/4 |
| < P3 : Small for gestational age | 75.0% | 3/4 |
| Birth Head circumference abnormalities | 50.0% | 2/4 |
| < P3 : Congenital microcephaly | 50.0% | 2/4 |
| Current Height abnormalities | 100.0% | 4/4 |
| < P3 : Short stature | 100.0% | 4/4 |
| Current Weight abnormalities | 75.0% | 3/4 |
| < P3 : Decreased body weight | 75.0% | 3/4 |
| Current Head circumference abnormalities | 100.0% | 4/4 |
| < P3 : Microcephaly | 100.0% | 4/4 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 4/4 |
| Aplasia/Hypoplasia of the cerebellar vermis | 25.0% | 1/4 |
| Central hypotonia | 25.0% | 1/4 |
| Congenital nystagmus | 25.0% | 1/4 |
| Congenital horizontal nystagmus | 25.0% | 1/4 |
| Febrile seizures | 25.0% | 1/4 |
| Microcephaly | 25.0% | 1/4 |
| Behavioral problems | 33.3% | 1/3 |
| Attention deficit hyperactivity disorder | 33.3% | 1/3 |
| Brain abnormality | 100.0% | 3/3 |
| Agenesis of corpus callosum | 33.3% | 1/3 |
| Cerebellar vermis hypoplasia | 33.3% | 1/3 |
| Partial agenesis of the corpus callosum | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the ear | 75.0% | 3/4 |
| Abnormal location of ears | 25.0% | 1/4 |
| Abnormality of the pinna | 25.0% | 1/4 |
| Low-set, posteriorly rotated ears | 25.0% | 1/4 |
| Abnormality of the eye | 75.0% | 3/4 |
| Abnormality of the eyebrow | 25.0% | 1/4 |
| Astigmatism | 25.0% | 1/4 |
| Long eyelashes | 25.0% | 1/4 |
| Small palpebral fissure | 25.0% | 1/4 |
| Upslanted palpebral fissure | 25.0% | 1/4 |
| Abnormality of the nose | 50.0% | 2/4 |
| Bulbous nose | 25.0% | 1/4 |
| Depressed nasal bridge | 25.0% | 1/4 |
| Short philtrum | 25.0% | 1/4 |
| Wide nose | 25.0% | 1/4 |
| Abnormality of the mouth | 100.0% | 4/4 |
| Thick lower lip vermilion | 50.0% | 2/4 |
| Thick upper lip vermilion | 50.0% | 2/4 |
| Abnormality of the lip | 25.0% | 1/4 |
| Aplasia/Hypoplasia of the maxilla | 25.0% | 1/4 |
| Cleft palate | 25.0% | 1/4 |
| High, narrow palate | 25.0% | 1/4 |
| Micrognathia | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal hearing | 66.7% | 2/3 |
| Bilateral sensorineural hearing impairment | 33.3% | 1/3 |
| Low-frequency hearing loss | 33.3% | 1/3 |
| Abnormal vision | 100.0% | 3/3 |
| Myopia | 66.7% | 2/3 |
| Astigmatism | 33.3% | 1/3 |
| Heart | ||
| Abnormality of the heart | 25.0% | 1/4 |
| Abnormality of the ventricular septum | 25.0% | 1/4 |
| Abnormality of the atrial septum | 25.0% | 1/4 |
| Pulmonary artery stenosis | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 25.0% | 1/4 |
| Enterocolitis | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 4/4 |
| Abnormality of the hallux | 25.0% | 1/4 |
| Absent epiphyses of the distal phalanges of the hand | 25.0% | 1/4 |
| Aplasia/Hypoplasia of the patella | 25.0% | 1/4 |
| Arachnodactyly | 25.0% | 1/4 |
| Broad fingertip | 25.0% | 1/4 |
| Scoliosis | 25.0% | 1/4 |
| Short toe | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 4/4 |
| Coarse hair | 50.0% | 2/4 |
| Sparse hair | 50.0% | 2/4 |
| Generalized hypertrichosis | 25.0% | 1/4 |
| Generalized hirsutism | 25.0% | 1/4 |
| Hypoplastic fifth toenail | 25.0% | 1/4 |
| Hypoplastic fifth fingernail | 25.0% | 1/4 |
| Low posterior hairline | 25.0% | 1/4 |
| Narrow nail | 25.0% | 1/4 |
| Thick eyebrow | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 33.3% | 1/3 |
| Delayed puberty | 33.3% | 1/3 |