BRWD3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 20/20 |
| Female | 0% | 0/20 |
| Indifferent | 0% | 0/20 |
| Unknown | 0% | 0/20 |
| General | ||
| Birth Length abnormalities | 15.0% | 3/20 |
| > P98 : Birth length greater than 97th percentile | 15.0% | 3/20 |
| Birth Weight abnormalities | 20.0% | 4/20 |
| < P3 : Small for gestational age | 5.0% | 1/20 |
| > P98 : Large for gestational age | 15.0% | 3/20 |
| Birth Head circumference abnormalities | 25.0% | 5/20 |
| > P98 : Macrocephaly at birth | 25.0% | 5/20 |
| Current Height abnormalities | 30.0% | 6/20 |
| > P98 : Tall stature | 20.0% | 4/20 |
| < P3 : Short stature | 10.0% | 2/20 |
| Current Weight abnormalities | 60.0% | 12/20 |
| > P98 : Increased body weight | 50.0% | 10/20 |
| < P3 : Decreased body weight | 10.0% | 2/20 |
| Current Head circumference abnormalities | 90.0% | 18/20 |
| > P98 : Macrocephaly | 90.0% | 18/20 |
| Neurology | ||
| Neurological abnormalities | 30.8% | 4/13 |
| Delayed fine motor development | 7.7% | 1/13 |
| Delayed speech and language development | 7.7% | 1/13 |
| Focal seizures | 7.7% | 1/13 |
| Generalized hypotonia | 7.7% | 1/13 |
| Global developmental delay | 7.7% | 1/13 |
| Intellectual disability | 7.7% | 1/13 |
| Migraine | 7.7% | 1/13 |
| Seizures | 7.7% | 1/13 |
| Behavioral problems | 87.5% | 14/16 |
| Attention deficit hyperactivity disorder | 56.3% | 9/16 |
| Aggressive behavior | 31.3% | 5/16 |
| Autism | 12.5% | 2/16 |
| Autistic behavior | 12.5% | 2/16 |
| Shyness | 12.5% | 2/16 |
| Brain abnormality | 15.4% | 2/13 |
| Arnold-Chiari type I malformation | 7.7% | 1/13 |
| Colpocephaly | 7.7% | 1/13 |
| Macrocephaly | 7.7% | 1/13 |
| Ventriculomegaly | 7.7% | 1/13 |
| Facial abnormalities | ||
| Abnormality of the ear | 58.3% | 7/12 |
| Prominent ear helix | 25.0% | 3/12 |
| Cupped ear | 16.7% | 2/12 |
| Large earlobe | 8.3% | 1/12 |
| Low-set ears | 8.3% | 1/12 |
| Macrotia | 8.3% | 1/12 |
| Posteriorly rotated ears | 8.3% | 1/12 |
| Protruding ear | 8.3% | 1/12 |
| Abnormality of the eye | 53.8% | 7/13 |
| Deeply set eye | 15.4% | 2/13 |
| Small palpebral fissure | 15.4% | 2/13 |
| Thick eyebrow | 15.4% | 2/13 |
| Abnormality of the eyebrow | 7.7% | 1/13 |
| Strabismus | 7.7% | 1/13 |
| Unilateral ptosis | 7.7% | 1/13 |
| Abnormality of the nose | 33.3% | 4/12 |
| Anteverted nares | 16.7% | 2/12 |
| Short nose | 16.7% | 2/12 |
| Broad nasal tip | 8.3% | 1/12 |
| Narrow nose | 8.3% | 1/12 |
| Wide nose | 8.3% | 1/12 |
| Abnormality of the mouth | 33.3% | 4/12 |
| Narrow mouth | 8.3% | 1/12 |
| Non-midline cleft lip | 8.3% | 1/12 |
| Short philtrum | 8.3% | 1/12 |
| Thick lower lip vermilion | 8.3% | 1/12 |
| Thick upper lip vermilion | 8.3% | 1/12 |
| Visual and hearing impairments | ||
| Abnormal hearing | 7.7% | 1/13 |
| Bilateral sensorineural hearing impairment | 7.7% | 1/13 |
| Abnormal vision | 16.7% | 2/12 |
| Strabismus | 8.3% | 1/12 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 7.7% | 1/13 |
| Barrett esophagus | 7.7% | 1/13 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 7/14 |
| Unilateral cryptorchidism | 28.6% | 4/14 |
| Bilateral cryptorchidism | 14.3% | 2/14 |
| Cryptorchidism | 7.1% | 1/14 |
| Micropenis | 7.1% | 1/14 |
| Skeleton | ||
| Skeletal abnormalities | 57.1% | 8/14 |
| Joint hypermobility | 21.4% | 3/14 |
| Abnormality of the thumb | 7.1% | 1/14 |
| Adducted thumb | 7.1% | 1/14 |
| Brachydactyly syndrome | 7.1% | 1/14 |
| Dental crowding | 7.1% | 1/14 |
| Hyperextensibility of the finger joints | 7.1% | 1/14 |
| Kyphoscoliosis | 7.1% | 1/14 |
| Large hands | 7.1% | 1/14 |
| Pectus excavatum | 7.1% | 1/14 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 23.1% | 3/13 |
| Joint laxity | 15.4% | 2/13 |
| Facial hemangioma | 7.7% | 1/13 |
| Shortening of all distal phalanges of the fingers | 7.7% | 1/13 |
| Short finger | 7.7% | 1/13 |
| Widened distal phalanges | 7.7% | 1/13 |
| Neoplasia | ||
| Neoplasia | 7.7% | 1/13 |
| Leukemia | 7.7% | 1/13 |