ACTL6A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 2/4 |
| Female | 50.0% | 2/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 25.0% | 1/4 |
| < P3 : Birth length less than 3rd percentile | 25.0% | 1/4 |
| Birth Weight abnormalities | 25.0% | 1/4 |
| < P3 : Small for gestational age | 25.0% | 1/4 |
| Birth Head circumference abnormalities | 0% | 0/3 |
| Current Height abnormalities | 0% | 0/4 |
| Current Weight abnormalities | 0% | 0/4 |
| Current Head circumference abnormalities | 0% | 0/4 |
| Neurology | ||
| Neurological abnormalities | 25.0% | 1/4 |
| Abnormality of the corpus callosum | 25.0% | 1/4 |
| Global developmental delay | 25.0% | 1/4 |
| Stereotypic behavior | 25.0% | 1/4 |
| Behavioral problems | 50.0% | 2/4 |
| Sleep disturbance | 50.0% | 2/4 |
| Abnormal aggressive, impulsive or violent behavior | 25.0% | 1/4 |
| Brain abnormality | 33.3% | 1/3 |
| Abnormality of the corpus callosum | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 2/4 |
| Low-set ears | 25.0% | 1/4 |
| Prominent ear helix | 25.0% | 1/4 |
| Abnormality of the eye | 100.0% | 4/4 |
| Abnormality of the eyebrow | 25.0% | 1/4 |
| Abnormality of the eyelashes | 25.0% | 1/4 |
| Hypertelorism | 25.0% | 1/4 |
| Long eyelashes | 25.0% | 1/4 |
| Thick eyebrow | 25.0% | 1/4 |
| Abnormality of the nose | 50.0% | 2/4 |
| Abnormality of upper lip | 25.0% | 1/4 |
| Abnormality of mouth size | 25.0% | 1/4 |
| Abnormality of lower lip | 25.0% | 1/4 |
| Anteverted nares | 25.0% | 1/4 |
| Broad nasal tip | 25.0% | 1/4 |
| Bulbous nose | 25.0% | 1/4 |
| Deep philtrum | 25.0% | 1/4 |
| Diastema | 25.0% | 1/4 |
| Low hanging columella | 25.0% | 1/4 |
| Abnormality of the mouth | 25.0% | 1/4 |
| Wide mouth | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 33.3% | 1/3 |
| Hyperopic astigmatism | 33.3% | 1/3 |
| Heart | ||
| Abnormality of the heart | 50.0% | 2/4 |
| Abnormality of the mitral valve | 25.0% | 1/4 |
| Abnormality of the atrial septum | 25.0% | 1/4 |
| Patent foramen ovale | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 2/4 |
| Constipation | 50.0% | 2/4 |
| Failure to thrive in infancy | 25.0% | 1/4 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 2/4 |
| Cryptorchidism | 25.0% | 1/4 |
| Hydronephrosis | 25.0% | 1/4 |
| Hypospadias | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 4/4 |
| Abnormality of digit | 75.0% | 3/4 |
| Abnormality of the hallux | 25.0% | 1/4 |
| Abnormality of the distal phalanges of the toes | 25.0% | 1/4 |
| Abnormality of the thumb | 25.0% | 1/4 |
| Hernia | 25.0% | 1/4 |
| Inguinal hernia | 25.0% | 1/4 |
| Joint hypermobility | 25.0% | 1/4 |
| Prominent interphalangeal joints | 25.0% | 1/4 |
| Scoliosis | 25.0% | 1/4 |
| Umbilical hernia | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 2/4 |
| Abnormality of the toenails | 25.0% | 1/4 |
| Abnormality of the fingernails | 25.0% | 1/4 |
| Abnormal hair quantity | 25.0% | 1/4 |
| Aplasia/Hypoplasia of the nails | 25.0% | 1/4 |
| Generalized hypertrichosis | 25.0% | 1/4 |