AMOTL1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 55.0% | 11/20 |
| Female | 45.0% | 9/20 |
| Indifferent | 0% | 0/20 |
| Unknown | 0% | 0/20 |
| General | ||
| Birth Length abnormalities | 0% | 0/20 |
| Birth Weight abnormalities | 0% | 0/20 |
| Birth Head circumference abnormalities | 0% | 0/20 |
| Current Height abnormalities | 5.0% | 1/20 |
| > P98 : Tall stature | 5.0% | 1/20 |
| Current Weight abnormalities | 10.0% | 2/20 |
| > P98 : Increased body weight | 10.0% | 2/20 |
| Current Head circumference abnormalities | 0% | 0/20 |
| Neurology | ||
| Neurological abnormalities | 10.5% | 2/19 |
| Dysphagia | 5.3% | 1/19 |
| Hypotonia | 5.3% | 1/19 |
| Behavioral problems | 26.3% | 5/19 |
| Attention deficit hyperactivity disorder | 15.8% | 3/19 |
| Autism | 10.5% | 2/19 |
| Compulsive behaviors | 5.3% | 1/19 |
| Brain abnormality | 100.0% | 5/5 |
| Abnormal corpus callosum morphology | 20.0% | 1/5 |
| Abnormal pituitary gland morphology | 20.0% | 1/5 |
| Abnormal spinal cord morphology | 20.0% | 1/5 |
| Enlarged cisterna magna | 20.0% | 1/5 |
| Fetal cerebral parenchymal hemorrhage | 20.0% | 1/5 |
| Fetal choroid plexus cysts | 20.0% | 1/5 |
| Hypoplastic optic chiasm | 20.0% | 1/5 |
| Intraventricular hemorrhage | 20.0% | 1/5 |
| Subdural hemorrhage | 20.0% | 1/5 |
| Tethered cord | 20.0% | 1/5 |
| Ventriculomegaly | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 70.6% | 12/17 |
| Macrotia | 35.3% | 6/17 |
| Protruding ear | 29.4% | 5/17 |
| Abnormal pinna morphology | 23.5% | 4/17 |
| Abnormality of the outer ear | 5.9% | 1/17 |
| Abnormal helix morphology | 5.9% | 1/17 |
| Abnormal earlobe morphology | 5.9% | 1/17 |
| Abnormal Eustachian tube morphology | 5.9% | 1/17 |
| Abnormal antihelix morphology | 5.9% | 1/17 |
| Preauricular skin tag | 5.9% | 1/17 |
| Underfolded helix | 5.9% | 1/17 |
| Abnormality of the eye | 41.2% | 7/17 |
| Proptosis | 23.5% | 4/17 |
| Hypertelorism | 17.6% | 3/17 |
| Ectropion | 11.8% | 2/17 |
| Ptosis | 11.8% | 2/17 |
| Telecanthus | 11.8% | 2/17 |
| Anisocoria | 5.9% | 1/17 |
| Blue sclerae | 5.9% | 1/17 |
| Downslanted palpebral fissures | 5.9% | 1/17 |
| Epicanthus | 5.9% | 1/17 |
| Hypoplastic lacrimal duct | 5.9% | 1/17 |
| Posterior embryotoxon | 5.9% | 1/17 |
| Abnormality of the nose | 11.8% | 2/17 |
| Bulbous nose | 5.9% | 1/17 |
| Convex nasal ridge | 5.9% | 1/17 |
| Depressed nasal tip | 5.9% | 1/17 |
| Depressed nasal bridge | 5.9% | 1/17 |
| Deviated nasal tip | 5.9% | 1/17 |
| Short nose | 5.9% | 1/17 |
| Wide nasal bridge | 5.9% | 1/17 |
| Abnormality of the mouth | 95.0% | 19/20 |
| Bilateral cleft palate | 40.0% | 8/20 |
| Unilateral cleft lip | 35.0% | 7/20 |
| Bilateral cleft lip | 25.0% | 5/20 |
| Cleft palate | 25.0% | 5/20 |
| Bifid uvula | 20.0% | 4/20 |
| Micrognathia | 15.0% | 3/20 |
| Cleft lip | 10.0% | 2/20 |
| Hypodontia | 10.0% | 2/20 |
| Unilateral cleft palate | 10.0% | 2/20 |
| Abnormality of the dentition | 5.0% | 1/20 |
| Bilateral alveolar cleft of maxilla | 5.0% | 1/20 |
| Downturned corners of mouth | 5.0% | 1/20 |
| Glossoptosis | 5.0% | 1/20 |
| High palate | 5.0% | 1/20 |
| Hypoplasia of the maxilla | 5.0% | 1/20 |
| Macrodontia | 5.0% | 1/20 |
| Mandibular prognathia | 5.0% | 1/20 |
| Microretrognathia | 5.0% | 1/20 |
| Submucous cleft hard palate | 5.0% | 1/20 |
| Submucous cleft palate | 5.0% | 1/20 |
| Thin upper lip vermilion | 5.0% | 1/20 |
| Visual and hearing impairments | ||
| Abnormal hearing | 27.8% | 5/18 |
| Mixed hearing impairment | 11.1% | 2/18 |
| Mild hearing impairment | 5.6% | 1/18 |
| Sensorineural hearing impairment | 5.6% | 1/18 |
| Unilateral sensorineural hearing impairment | 5.6% | 1/18 |
| Abnormal vision | 15.8% | 3/19 |
| Myopia | 15.8% | 3/19 |
| Heart | ||
| Abnormality of the heart | 66.7% | 12/18 |
| Atrial septal defect | 50.0% | 9/18 |
| Tetralogy of Fallot | 11.1% | 2/18 |
| Ventricular septal defect | 11.1% | 2/18 |
| Abnormal mitral valve morphology | 5.6% | 1/18 |
| Abnormal cardiovascular system morphology | 5.6% | 1/18 |
| Congestive heart failure | 5.6% | 1/18 |
| Double orifice mitral valve | 5.6% | 1/18 |
| Mitral valve prolapse | 5.6% | 1/18 |
| Pulmonary arterial hypertension | 5.6% | 1/18 |
| Pulmonic stenosis | 5.6% | 1/18 |
| Vein of Galen aneurysmal malformation | 5.6% | 1/18 |
| Pulmonary | ||
| Abnormality of the lungs | 15.8% | 3/19 |
| Acute respiratory distress syndrome | 5.3% | 1/19 |
| Asthma | 5.3% | 1/19 |
| Congenital diaphragmatic hernia | 5.3% | 1/19 |
| Pulmonary hemorrhage | 5.3% | 1/19 |
| Respiratory insufficiency | 5.3% | 1/19 |
| Snoring | 5.3% | 1/19 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 9/18 |
| Constipation | 11.1% | 2/18 |
| Decreased liver function | 11.1% | 2/18 |
| Gastrointestinal dysmotility | 11.1% | 2/18 |
| Abnormal portal venous system morphology | 5.6% | 1/18 |
| Abnormal intestine morphology | 5.6% | 1/18 |
| Abnormal intrahepatic bile duct morphology | 5.6% | 1/18 |
| Anal atresia | 5.6% | 1/18 |
| Cholestasis | 5.6% | 1/18 |
| Chronic constipation | 5.6% | 1/18 |
| Gastroesophageal reflux | 5.6% | 1/18 |
| Hepatic fibrosis | 5.6% | 1/18 |
| Rectovaginal fistula | 5.6% | 1/18 |
| Reduced number of intrahepatic bile ducts | 5.6% | 1/18 |
| Urogenital | ||
| Abnormality of the urogenital system | 21.1% | 4/19 |
| Acute kidney injury | 5.3% | 1/19 |
| Hydronephrosis | 5.3% | 1/19 |
| Unilateral cryptorchidism | 5.3% | 1/19 |
| Vesicoureteral reflux | 5.3% | 1/19 |
| Skeleton | ||
| Skeletal abnormalities | 44.4% | 8/18 |
| Scoliosis | 16.7% | 3/18 |
| Accelerated skeletal maturation | 11.1% | 2/18 |
| Tapered finger | 11.1% | 2/18 |
| Abnormal toe morphology | 5.6% | 1/18 |
| Arachnodactyly | 5.6% | 1/18 |
| Clinodactyly of the 5th finger | 5.6% | 1/18 |
| Coronal craniosynostosis | 5.6% | 1/18 |
| Cubitus valgus | 5.6% | 1/18 |
| Flexion contracture of digit | 5.6% | 1/18 |
| Hallux varus | 5.6% | 1/18 |
| Long fingers | 5.6% | 1/18 |
| Pes planus | 5.6% | 1/18 |
| Proximal placement of thumb | 5.6% | 1/18 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 36.8% | 7/19 |
| Abnormal number of hair whorls | 10.5% | 2/19 |
| Inverted nipples | 10.5% | 2/19 |
| Bruising susceptibility | 5.3% | 1/19 |
| Highly arched eyebrow | 5.3% | 1/19 |
| High anterior hairline | 5.3% | 1/19 |
| Pruritus | 5.3% | 1/19 |
| Sacral dimple | 5.3% | 1/19 |
| Skin tags | 5.3% | 1/19 |
| Sparse hair | 5.3% | 1/19 |
| Synophrys | 5.3% | 1/19 |
| Wide intermamillary distance | 5.3% | 1/19 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 5.3% | 1/19 |
| Premature adrenarche | 5.3% | 1/19 |
| Abnormality of the metabolic system | 27.8% | 5/18 |
| Abnormal circulating hepatic transaminase concentration | 16.7% | 3/18 |
| Elevated circulating hepatic transaminase concentration | 11.1% | 2/18 |
| Abnormality of the immune system | 26.3% | 5/19 |
| Recurrent otitis media | 10.5% | 2/19 |
| Recurrent candida infections | 10.5% | 2/19 |
| Allergy | 5.3% | 1/19 |
| Decreased total neutrophil count | 5.3% | 1/19 |
| Recurrent fever | 5.3% | 1/19 |