BRWD3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 18/18 |
| Female | 0% | 0/18 |
| Indifferent | 0% | 0/18 |
| Unknown | 0% | 0/18 |
| General | ||
| Birth Length abnormalities | 16.7% | 3/18 |
| > P98 : Birth length greater than 97th percentile | 16.7% | 3/18 |
| Birth Weight abnormalities | 16.7% | 3/18 |
| < P3 : Small for gestational age | 5.6% | 1/18 |
| > P98 : Large for gestational age | 11.1% | 2/18 |
| Birth Head circumference abnormalities | 27.8% | 5/18 |
| > P98 : Macrocephaly at birth | 27.8% | 5/18 |
| Current Height abnormalities | 27.8% | 5/18 |
| > P98 : Tall stature | 16.7% | 3/18 |
| < P3 : Short stature | 11.1% | 2/18 |
| Current Weight abnormalities | 55.6% | 10/18 |
| > P98 : Increased body weight | 44.4% | 8/18 |
| < P3 : Decreased body weight | 11.1% | 2/18 |
| Current Head circumference abnormalities | 88.9% | 16/18 |
| > P98 : Macrocephaly | 88.9% | 16/18 |
| Neurology | ||
| Neurological abnormalities | 18.2% | 2/11 |
| Focal seizures | 9.1% | 1/11 |
| Migraine | 9.1% | 1/11 |
| Seizures | 9.1% | 1/11 |
| Behavioral problems | 85.7% | 12/14 |
| Attention deficit hyperactivity disorder | 57.1% | 8/14 |
| Aggressive behavior | 28.6% | 4/14 |
| Autism | 14.3% | 2/14 |
| Shyness | 14.3% | 2/14 |
| Autistic behavior | 7.1% | 1/14 |
| Brain abnormality | 18.2% | 2/11 |
| Arnold-Chiari type I malformation | 9.1% | 1/11 |
| Colpocephaly | 9.1% | 1/11 |
| Macrocephaly | 9.1% | 1/11 |
| Ventriculomegaly | 9.1% | 1/11 |
| Facial abnormalities | ||
| Abnormality of the ear | 70.0% | 7/10 |
| Prominent ear helix | 30.0% | 3/10 |
| Cupped ear | 20.0% | 2/10 |
| Large earlobe | 10.0% | 1/10 |
| Low-set ears | 10.0% | 1/10 |
| Macrotia | 10.0% | 1/10 |
| Posteriorly rotated ears | 10.0% | 1/10 |
| Protruding ear | 10.0% | 1/10 |
| Abnormality of the eye | 45.5% | 5/11 |
| Deeply set eye | 18.2% | 2/11 |
| Thick eyebrow | 18.2% | 2/11 |
| Small palpebral fissure | 9.1% | 1/11 |
| Strabismus | 9.1% | 1/11 |
| Unilateral ptosis | 9.1% | 1/11 |
| Abnormality of the nose | 30.0% | 3/10 |
| Short nose | 20.0% | 2/10 |
| Anteverted nares | 10.0% | 1/10 |
| Broad nasal tip | 10.0% | 1/10 |
| Narrow nose | 10.0% | 1/10 |
| Wide nose | 10.0% | 1/10 |
| Abnormality of the mouth | 30.0% | 3/10 |
| Non-midline cleft lip | 10.0% | 1/10 |
| Short philtrum | 10.0% | 1/10 |
| Thick upper lip vermilion | 10.0% | 1/10 |
| Thick lower lip vermilion | 10.0% | 1/10 |
| Visual and hearing impairments | ||
| Abnormal hearing | 9.1% | 1/11 |
| Bilateral sensorineural hearing impairment | 9.1% | 1/11 |
| Abnormal vision | 10.0% | 1/10 |
| Strabismus | 10.0% | 1/10 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 9.1% | 1/11 |
| Barrett esophagus | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 58.3% | 7/12 |
| Unilateral cryptorchidism | 33.3% | 4/12 |
| Bilateral cryptorchidism | 16.7% | 2/12 |
| Cryptorchidism | 8.3% | 1/12 |
| Micropenis | 8.3% | 1/12 |
| Skeleton | ||
| Skeletal abnormalities | 58.3% | 7/12 |
| Joint hypermobility | 25.0% | 3/12 |
| Brachydactyly syndrome | 8.3% | 1/12 |
| Dental crowding | 8.3% | 1/12 |
| Hyperextensibility of the finger joints | 8.3% | 1/12 |
| Kyphoscoliosis | 8.3% | 1/12 |
| Pectus excavatum | 8.3% | 1/12 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 27.3% | 3/11 |
| Joint laxity | 18.2% | 2/11 |
| Facial hemangioma | 9.1% | 1/11 |
| Short finger | 9.1% | 1/11 |
| Shortening of all distal phalanges of the fingers | 9.1% | 1/11 |
| Widened distal phalanges | 9.1% | 1/11 |