SMARCD1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 71.4% | 5/7 |
| Female | 28.6% | 2/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 14.3% | 1/7 |
| < P3 : Birth length less than 3rd percentile | 14.3% | 1/7 |
| Birth Weight abnormalities | 14.3% | 1/7 |
| > P98 : Large for gestational age | 14.3% | 1/7 |
| Birth Head circumference abnormalities | 28.6% | 2/7 |
| < P3 : Congenital microcephaly | 14.3% | 1/7 |
| > P98 : Macrocephaly at birth | 14.3% | 1/7 |
| Current Height abnormalities | 71.4% | 5/7 |
| < P3 : Short stature | 42.9% | 3/7 |
| > P98 : Tall stature | 28.6% | 2/7 |
| Current Weight abnormalities | 71.4% | 5/7 |
| < P3 : Decreased body weight | 28.6% | 2/7 |
| > P98 : Increased body weight | 42.9% | 3/7 |
| Current Head circumference abnormalities | 28.6% | 2/7 |
| > P98 : Macrocephaly | 14.3% | 1/7 |
| < P3 : Microcephaly | 14.3% | 1/7 |
| Neurology | ||
| Neurological abnormalities | 71.4% | 5/7 |
| Muscular hypotonia | 57.1% | 4/7 |
| Autism | 14.3% | 1/7 |
| Global developmental delay | 14.3% | 1/7 |
| Intellectual disability, moderate | 14.3% | 1/7 |
| Nystagmus | 14.3% | 1/7 |
| Poor motor coordination | 14.3% | 1/7 |
| Severe muscular hypotonia | 14.3% | 1/7 |
| Speech apraxia | 14.3% | 1/7 |
| Behavioral problems | 33.3% | 2/6 |
| Anxiety | 16.7% | 1/6 |
| Low frustration tolerance | 16.7% | 1/6 |
| Obsessive-compulsive trait | 16.7% | 1/6 |
| Brain abnormality | 66.7% | 2/3 |
| Agenesis of corpus callosum | 33.3% | 1/3 |
| Cavum septum pellucidum | 33.3% | 1/3 |
| Perivascular spaces | 33.3% | 1/3 |
| Ventriculomegaly | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the ear | 85.7% | 6/7 |
| Low-set ears | 28.6% | 2/7 |
| Thickened ears | 28.6% | 2/7 |
| Uplifted earlobe | 28.6% | 2/7 |
| Abnormality of the outer ear | 14.3% | 1/7 |
| Posteriorly rotated ears | 14.3% | 1/7 |
| Abnormality of the eye | 42.9% | 3/7 |
| Deeply set eye | 14.3% | 1/7 |
| Hypertelorism | 14.3% | 1/7 |
| Hypotelorism | 14.3% | 1/7 |
| Long eyebrows | 14.3% | 1/7 |
| Abnormality of the nose | 57.1% | 4/7 |
| Broad nasal tip | 14.3% | 1/7 |
| Bulbous nose | 14.3% | 1/7 |
| Depressed nasal bridge | 14.3% | 1/7 |
| Prominent nose | 14.3% | 1/7 |
| Short nose | 14.3% | 1/7 |
| Abnormality of the mouth | 71.4% | 5/7 |
| High palate | 28.6% | 2/7 |
| Abnormality of the teeth | 14.3% | 1/7 |
| Ankyloglossia | 14.3% | 1/7 |
| Bifid uvula | 14.3% | 1/7 |
| Cleft soft palate | 14.3% | 1/7 |
| Delayed eruption of teeth | 14.3% | 1/7 |
| Downturned corners of mouth | 14.3% | 1/7 |
| Microdontia | 14.3% | 1/7 |
| Wide mouth | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 28.6% | 2/7 |
| Abnormality of the middle ear ossicles | 14.3% | 1/7 |
| Hearing impairment | 14.3% | 1/7 |
| Mild hearing impairment | 14.3% | 1/7 |
| Abnormal vision | 28.6% | 2/7 |
| Astigmatism | 14.3% | 1/7 |
| Exotropia | 14.3% | 1/7 |
| Pulmonary | ||
| Abnormality of the lungs | 33.3% | 1/3 |
| Respiratory infections in early life | 33.3% | 1/3 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 85.7% | 6/7 |
| Feeding difficulties | 42.9% | 3/7 |
| Gastroesophageal reflux | 42.9% | 3/7 |
| Abdominal pain | 14.3% | 1/7 |
| Diarrhea | 14.3% | 1/7 |
| Esophageal atresia | 14.3% | 1/7 |
| Feeding difficulties in infancy | 14.3% | 1/7 |
| Poor suck | 14.3% | 1/7 |
| Urogenital | ||
| Abnormality of the urogenital system | 66.7% | 2/3 |
| Hydronephrosis | 33.3% | 1/3 |
| Hypoplastic male external genitalia | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 60.0% | 3/5 |
| Short palm | 60.0% | 3/5 |
| Short foot | 40.0% | 2/5 |
| Arachnodactyly | 20.0% | 1/5 |
| Short 5th finger | 20.0% | 1/5 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 60.0% | 3/5 |
| Cutis laxa | 20.0% | 1/5 |
| Hypoplastic fifth toenail | 20.0% | 1/5 |
| Jaundice | 20.0% | 1/5 |
| Sparse hair | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 50.0% | 1/2 |
| Delayed puberty | 50.0% | 1/2 |
| Proportionate short stature | 50.0% | 1/2 |
| Abnormality of the immune system | 50.0% | 2/4 |
| Recurrent infections | 50.0% | 2/4 |