EP300
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 55.6% | 10/18 |
| Female | 44.4% | 8/18 |
| Indifferent | 0% | 0/18 |
| Unknown | 0% | 0/18 |
| General | ||
| Birth Length abnormalities | 11.1% | 2/18 |
| < P3 : Birth length less than 3rd percentile | 11.1% | 2/18 |
| Birth Weight abnormalities | 22.2% | 4/18 |
| < P3 : Small for gestational age | 22.2% | 4/18 |
| Birth Head circumference abnormalities | 5.6% | 1/18 |
| < P3 : Primary microcephaly | 5.6% | 1/18 |
| Current Height abnormalities | 44.4% | 8/18 |
| < P3 : Short stature | 44.4% | 8/18 |
| Current Weight abnormalities | 33.3% | 6/18 |
| < P3 : Decreased body weight | 27.8% | 5/18 |
| > P98 : Increased body weight | 5.6% | 1/18 |
| Current Head circumference abnormalities | 100.0% | 18/18 |
| < P3 : Microcephaly | 100.0% | 18/18 |
| Neurology | ||
| Neurological abnormalities | 27.8% | 5/18 |
| Hypotonia | 11.1% | 2/18 |
| Gait disturbance | 5.6% | 1/18 |
| Generalized hypotonia | 5.6% | 1/18 |
| Hyperreflexia | 5.6% | 1/18 |
| Sacral meningocele | 5.6% | 1/18 |
| Sleep apnea | 5.6% | 1/18 |
| Tethered cord | 5.6% | 1/18 |
| Behavioral problems | 44.4% | 8/18 |
| Autism | 16.7% | 3/18 |
| Attention deficit hyperactivity disorder | 11.1% | 2/18 |
| Anxiety | 5.6% | 1/18 |
| Autistic behavior | 5.6% | 1/18 |
| Emotional lability | 5.6% | 1/18 |
| Self-injurious behavior | 5.6% | 1/18 |
| Short attention span | 5.6% | 1/18 |
| Sleep disturbance | 5.6% | 1/18 |
| Brain abnormality | 27.8% | 5/18 |
| Abnormal fourth ventricle morphology | 5.6% | 1/18 |
| Abnormal periventricular white matter morphology | 5.6% | 1/18 |
| Cerebellar vermis hypoplasia | 5.6% | 1/18 |
| Enlarged cisterna magna | 5.6% | 1/18 |
| Focal white matter lesions | 5.6% | 1/18 |
| Hypoplasia of the corpus callosum | 5.6% | 1/18 |
| Tethered cord | 5.6% | 1/18 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 6/18 |
| Posteriorly rotated ears | 22.2% | 4/18 |
| Low-set ears | 16.7% | 3/18 |
| Macrotia | 5.6% | 1/18 |
| Posterior helix pit | 5.6% | 1/18 |
| Protruding ear | 5.6% | 1/18 |
| Abnormality of the eye | 88.9% | 16/18 |
| Long eyelashes | 61.1% | 11/18 |
| Downslanted palpebral fissures | 55.6% | 10/18 |
| Highly arched eyebrow | 33.3% | 6/18 |
| Thick eyebrow | 16.7% | 3/18 |
| Deeply set eye | 5.6% | 1/18 |
| Epicanthus | 5.6% | 1/18 |
| Heterochromia iridis | 5.6% | 1/18 |
| Hypertelorism | 5.6% | 1/18 |
| Periorbital fullness | 5.6% | 1/18 |
| Upslanted palpebral fissure | 5.6% | 1/18 |
| Abnormality of the nose | 83.3% | 15/18 |
| Low hanging columella | 77.8% | 14/18 |
| Prominent nose | 22.2% | 4/18 |
| obsolete Large beaked nose | 11.1% | 2/18 |
| Wide nasal bridge | 11.1% | 2/18 |
| Convex nasal ridge | 5.6% | 1/18 |
| Narrow nose | 5.6% | 1/18 |
| Prominent nasal bridge | 5.6% | 1/18 |
| Abnormality of the mouth | 72.2% | 13/18 |
| Facial grimacing | 27.8% | 5/18 |
| Micrognathia | 22.2% | 4/18 |
| Narrow palate | 22.2% | 4/18 |
| Narrow mouth | 16.7% | 3/18 |
| Retrognathia | 16.7% | 3/18 |
| High palate | 5.6% | 1/18 |
| Short philtrum | 5.6% | 1/18 |
| Smooth philtrum | 5.6% | 1/18 |
| Thin upper lip vermilion | 5.6% | 1/18 |
| Widely spaced teeth | 5.6% | 1/18 |
| Visual and hearing impairments | ||
| Abnormal hearing | 11.1% | 2/18 |
| Conductive hearing impairment | 5.6% | 1/18 |
| Hearing impairment | 5.6% | 1/18 |
| Abnormal vision | 66.7% | 12/18 |
| Hypermetropia | 16.7% | 3/18 |
| Strabismus | 16.7% | 3/18 |
| Astigmatism | 11.1% | 2/18 |
| Myopia | 11.1% | 2/18 |
| Duane anomaly | 5.6% | 1/18 |
| Esotropia | 5.6% | 1/18 |
| Exotropia | 5.6% | 1/18 |
| Fundus hypopigmentation | 5.6% | 1/18 |
| Leukocoria | 5.6% | 1/18 |
| Marcus Gunn jaw winking synkinesis | 5.6% | 1/18 |
| Heart | ||
| Abnormality of the heart | 27.8% | 5/18 |
| Ventricular septal defect | 22.2% | 4/18 |
| Patent ductus arteriosus | 11.1% | 2/18 |
| Atrial septal defect | 5.6% | 1/18 |
| Pulmonary hypoplasia | 5.6% | 1/18 |
| Right aortic arch | 5.6% | 1/18 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 22.2% | 4/18 |
| Gastroesophageal reflux | 16.7% | 3/18 |
| Failure to thrive | 11.1% | 2/18 |
| Constipation | 5.6% | 1/18 |
| Urogenital | ||
| Abnormality of the urogenital system | 27.8% | 5/18 |
| Cryptorchidism | 16.7% | 3/18 |
| Enuresis | 5.6% | 1/18 |
| Unilateral renal agenesis | 5.6% | 1/18 |
| Skeleton | ||
| Skeletal abnormalities | 94.4% | 17/18 |
| Broad hallux | 72.2% | 13/18 |
| Broad thumb | 61.1% | 11/18 |
| Pectus excavatum | 11.1% | 2/18 |
| Pes planus | 11.1% | 2/18 |
| Prominent fingertip pads | 11.1% | 2/18 |
| Scoliosis | 11.1% | 2/18 |
| Ankle contracture | 5.6% | 1/18 |
| Asymmetry of the thorax | 5.6% | 1/18 |
| Broad finger | 5.6% | 1/18 |
| Clinodactyly | 5.6% | 1/18 |
| Genu valgum | 5.6% | 1/18 |
| Long fingers | 5.6% | 1/18 |
| Long toe | 5.6% | 1/18 |
| Osseous syndactyly of toes | 5.6% | 1/18 |
| Pes valgus | 5.6% | 1/18 |
| Postaxial foot polydactyly | 5.6% | 1/18 |
| Radial deviation of thumb terminal phalanx | 5.6% | 1/18 |
| Short second metatarsal | 5.6% | 1/18 |
| Syndactyly | 5.6% | 1/18 |
| Thoracic scoliosis | 5.6% | 1/18 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 44.4% | 8/18 |
| Hirsutism | 27.8% | 5/18 |
| Eczematoid dermatitis | 5.6% | 1/18 |
| Keloids | 5.6% | 1/18 |
| Multiple lentigines | 5.6% | 1/18 |
| Nevus flammeus | 5.6% | 1/18 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 5.6% | 1/18 |
| Precocious puberty | 5.6% | 1/18 |
| Abnormality of the metabolic system | 5.6% | 1/18 |
| Hypoglycemia | 5.6% | 1/18 |
| Abnormality of the immune system | 11.1% | 2/18 |
| Recurrent upper respiratory tract infections | 11.1% | 2/18 |
| Neoplasia | ||
| Neoplasia | 16.7% | 3/18 |
| Pilomatrixoma | 16.7% | 3/18 |