SATB2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 68.4% | 13/19 |
| Female | 26.3% | 5/19 |
| Indifferent | 0% | 0/19 |
| Unknown | 5.3% | 1/19 |
| General | ||
| Birth Length abnormalities | 0% | 0/19 |
| Birth Weight abnormalities | 0% | 0/19 |
| Birth Head circumference abnormalities | 5.3% | 1/19 |
| > P98 : Macrocephaly at birth | 5.3% | 1/19 |
| Current Height abnormalities | 15.8% | 3/19 |
| < P3 : Short stature | 10.5% | 2/19 |
| > P98 : Tall stature | 5.3% | 1/19 |
| Current Weight abnormalities | 5.3% | 1/19 |
| < P3 : Decreased body weight | 5.3% | 1/19 |
| Current Head circumference abnormalities | 5.3% | 1/19 |
| < P3 : Microcephaly | 5.3% | 1/19 |
| Neurology | ||
| Neurological abnormalities | 75.0% | 9/12 |
| Muscular hypotonia | 41.7% | 5/12 |
| Seizures | 16.7% | 2/12 |
| Broad-based gait | 8.3% | 1/12 |
| Bruxism | 8.3% | 1/12 |
| Cranial nerve paralysis | 8.3% | 1/12 |
| Exaggerated startle response | 8.3% | 1/12 |
| Poor coordination | 8.3% | 1/12 |
| Behavioral problems | 93.8% | 15/16 |
| Absent speech | 81.3% | 13/16 |
| Sleep disturbance | 25.0% | 4/16 |
| Aggressive behavior | 12.5% | 2/16 |
| Autistic behavior | 12.5% | 2/16 |
| Autism | 12.5% | 2/16 |
| Behavioral abnormality | 12.5% | 2/16 |
| Overfriendliness | 12.5% | 2/16 |
| Poor speech | 12.5% | 2/16 |
| Happy demeanor | 6.3% | 1/16 |
| Head-banging | 6.3% | 1/16 |
| Low frustration tolerance | 6.3% | 1/16 |
| Stereotypic behavior | 6.3% | 1/16 |
| Brain abnormality | 22.2% | 2/9 |
| Cerebellar vermis hypoplasia | 11.1% | 1/9 |
| Delayed CNS myelination | 11.1% | 1/9 |
| Enlarged cisterna magna | 11.1% | 1/9 |
| Perisylvian polymicrogyria | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the ear | 5.9% | 1/17 |
| Posterior helix pit | 5.9% | 1/17 |
| Abnormality of the eye | 29.4% | 5/17 |
| Deeply set eye | 11.8% | 2/17 |
| Epicanthus | 11.8% | 2/17 |
| Downslanted palpebral fissures | 5.9% | 1/17 |
| Hypotelorism | 5.9% | 1/17 |
| Abnormality of the nose | 17.6% | 3/17 |
| Choanal atresia | 5.9% | 1/17 |
| Depressed nasal bridge | 5.9% | 1/17 |
| Prominent nasal bridge | 5.9% | 1/17 |
| Abnormality of the mouth | 88.2% | 15/17 |
| Cleft palate | 41.2% | 7/17 |
| High palate | 23.5% | 4/17 |
| Micrognathia | 23.5% | 4/17 |
| Dental crowding | 17.6% | 3/17 |
| Thin vermilion border | 17.6% | 3/17 |
| Delayed eruption of primary teeth | 11.8% | 2/17 |
| Narrow mouth | 11.8% | 2/17 |
| Abnormality of the incisor | 5.9% | 1/17 |
| Abnormality of the teeth | 5.9% | 1/17 |
| Everted lower lip vermilion | 5.9% | 1/17 |
| Macrodontia of permanent maxillary central incisor | 5.9% | 1/17 |
| Narrow palate | 5.9% | 1/17 |
| Pierre-Robin sequence | 5.9% | 1/17 |
| Widely-spaced maxillary central incisors | 5.9% | 1/17 |
| Visual and hearing impairments | ||
| Abnormal vision | 26.3% | 5/19 |
| Strabismus | 10.5% | 2/19 |
| Esotropia | 5.3% | 1/19 |
| Myopia | 5.3% | 1/19 |
| Photophobia | 5.3% | 1/19 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 10.5% | 2/19 |
| Gastroesophageal reflux | 5.3% | 1/19 |
| Intussusception | 5.3% | 1/19 |
| Skeleton | ||
| Skeletal abnormalities | 42.1% | 8/19 |
| Joint hypermobility | 21.1% | 4/19 |
| Broad thumb | 15.8% | 3/19 |
| Clinodactyly of the 5th finger | 10.5% | 2/19 |
| Abnormality of the tibia | 5.3% | 1/19 |
| Broad hallux | 5.3% | 1/19 |
| Pectus excavatum | 5.3% | 1/19 |
| Pes planus | 5.3% | 1/19 |
| Short metacarpal | 5.3% | 1/19 |
| Tapered metacarpals | 5.3% | 1/19 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 31.6% | 6/19 |
| Abnormal hair pattern | 5.3% | 1/19 |
| Hemangioma | 5.3% | 1/19 |
| Hypopigmented skin patches | 5.3% | 1/19 |
| Long eyelashes | 5.3% | 1/19 |
| Prominent fingertip pads | 5.3% | 1/19 |
| Single transverse palmar crease | 5.3% | 1/19 |
| Supernumerary nipple | 5.3% | 1/19 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 16.7% | 2/12 |
| Elevated alkaline phosphatase | 16.7% | 2/12 |
| Abnormality of the immune system | 5.3% | 1/19 |
| Otitis media | 5.3% | 1/19 |