SMARCD1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 60.0% | 3/5 |
| Female | 40.0% | 2/5 |
| Indifferent | 0% | 0/5 |
| Unknown | 0% | 0/5 |
| General | ||
| Birth Length abnormalities | 20.0% | 1/5 |
| < P3 : Birth length less than 3rd percentile | 20.0% | 1/5 |
| Birth Weight abnormalities | 20.0% | 1/5 |
| > P98 : Large for gestational age | 20.0% | 1/5 |
| Birth Head circumference abnormalities | 40.0% | 2/5 |
| < P3 : Congenital microcephaly | 20.0% | 1/5 |
| > P98 : Macrocephaly at birth | 20.0% | 1/5 |
| Current Height abnormalities | 80.0% | 4/5 |
| < P3 : Short stature | 40.0% | 2/5 |
| > P98 : Tall stature | 40.0% | 2/5 |
| Current Weight abnormalities | 80.0% | 4/5 |
| < P3 : Decreased body weight | 40.0% | 2/5 |
| > P98 : Increased body weight | 40.0% | 2/5 |
| Current Head circumference abnormalities | 40.0% | 2/5 |
| > P98 : Macrocephaly | 20.0% | 1/5 |
| < P3 : Microcephaly | 20.0% | 1/5 |
| Neurology | ||
| Neurological abnormalities | 60.0% | 3/5 |
| Muscular hypotonia | 40.0% | 2/5 |
| Nystagmus | 20.0% | 1/5 |
| Severe muscular hypotonia | 20.0% | 1/5 |
| Speech apraxia | 20.0% | 1/5 |
| Behavioral problems | 50.0% | 2/4 |
| Anxiety | 25.0% | 1/4 |
| Low frustration tolerance | 25.0% | 1/4 |
| Obsessive-compulsive trait | 25.0% | 1/4 |
| Brain abnormality | 100.0% | 2/2 |
| Agenesis of corpus callosum | 50.0% | 1/2 |
| Cavum septum pellucidum | 50.0% | 1/2 |
| Perivascular spaces | 50.0% | 1/2 |
| Ventriculomegaly | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 80.0% | 4/5 |
| Thickened ears | 40.0% | 2/5 |
| Uplifted earlobe | 40.0% | 2/5 |
| Abnormality of the outer ear | 20.0% | 1/5 |
| Low-set ears | 20.0% | 1/5 |
| Abnormality of the eye | 40.0% | 2/5 |
| Hypertelorism | 20.0% | 1/5 |
| Long eyebrows | 20.0% | 1/5 |
| Abnormality of the nose | 40.0% | 2/5 |
| Bulbous nose | 20.0% | 1/5 |
| Depressed nasal bridge | 20.0% | 1/5 |
| Short nose | 20.0% | 1/5 |
| Abnormality of the mouth | 80.0% | 4/5 |
| High palate | 40.0% | 2/5 |
| Ankyloglossia | 20.0% | 1/5 |
| Bifid uvula | 20.0% | 1/5 |
| Cleft soft palate | 20.0% | 1/5 |
| Delayed eruption of teeth | 20.0% | 1/5 |
| Downturned corners of mouth | 20.0% | 1/5 |
| Microdontia | 20.0% | 1/5 |
| Wide mouth | 20.0% | 1/5 |
| Visual and hearing impairments | ||
| Abnormal hearing | 40.0% | 2/5 |
| Abnormality of the middle ear ossicles | 20.0% | 1/5 |
| Hearing impairment | 20.0% | 1/5 |
| Mild hearing impairment | 20.0% | 1/5 |
| Abnormal vision | 40.0% | 2/5 |
| Astigmatism | 20.0% | 1/5 |
| Exotropia | 20.0% | 1/5 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 1/1 |
| Respiratory infections in early life | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 5/5 |
| Feeding difficulties | 60.0% | 3/5 |
| Gastroesophageal reflux | 60.0% | 3/5 |
| Esophageal atresia | 20.0% | 1/5 |
| Feeding difficulties in infancy | 20.0% | 1/5 |
| Poor suck | 20.0% | 1/5 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 1/1 |
| Hydronephrosis | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 3/3 |
| Short palm | 100.0% | 3/3 |
| Short foot | 66.7% | 2/3 |
| Arachnodactyly | 33.3% | 1/3 |
| Short 5th finger | 33.3% | 1/3 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 3/3 |
| Cutis laxa | 33.3% | 1/3 |
| Hypoplastic fifth toenail | 33.3% | 1/3 |
| Jaundice | 33.3% | 1/3 |
| Sparse hair | 33.3% | 1/3 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 100.0% | 2/2 |
| Recurrent infections | 100.0% | 2/2 |