TRIP12
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 69.6% | 16/23 |
| Female | 30.4% | 7/23 |
| Neurology | ||
| Neurological abnormalities | 45.5% | 10/22 |
| Muscular hypotonia | 18.2% | 4/22 |
| Seizures | 13.6% | 3/22 |
| Facial hypotonia | 4.5% | 1/22 |
| EEG abnormality | 9.1% | 2/22 |
| Intention tremor | 4.5% | 1/22 |
| Generalized tonic-clonic seizures | 9.1% | 2/22 |
| Absence seizures | 4.5% | 1/22 |
| Poor fine motor coordination | 9.1% | 2/22 |
| Generalized hypotonia | 4.5% | 1/22 |
| Developmental regression | 9.1% | 2/22 |
| Neonatal hypotonia | 4.5% | 1/22 |
| Behavioral problems | 95.5% | 21/22 |
| Short attention span | 13.6% | 3/22 |
| Autism | 63.6% | 14/22 |
| Stereotypic behavior | 18.2% | 4/22 |
| Restlessness | 4.5% | 1/22 |
| Excessive salivation | 4.5% | 1/22 |
| Behavioral abnormality | 4.5% | 1/22 |
| Attention deficit hyperactivity disorder | 4.5% | 1/22 |
| Hyperactivity | 9.1% | 2/22 |
| Impulsivity | 9.1% | 2/22 |
| Developmental regression | 4.5% | 1/22 |
| Insomnia | 9.1% | 2/22 |
| Sleep disturbance | 4.5% | 1/22 |
| Autistic behavior | 13.6% | 3/22 |
| Impaired social interactions | 4.5% | 1/22 |
| Anxiety | 4.5% | 1/22 |
| Repetitive compulsive behavior | 4.5% | 1/22 |
| Abnormal aggressive, impulsive or violent behavior | 4.5% | 1/22 |
| Aggressive behavior | 9.1% | 2/22 |
| Brain abnormality | 5.9% | 1/17 |
| Dilated third ventricle | 5.9% | 1/17 |
| Dilation of lateral ventricles | 5.9% | 1/17 |
| Facial abnormalities | ||
| Abnormality of the ear | 52.6% | 10/19 |
| Lop ear | 5.3% | 1/19 |
| Large earlobe | 31.6% | 6/19 |
| Microtia | 15.8% | 3/19 |
| Posteriorly rotated ears | 10.5% | 2/19 |
| Low-set ears | 10.5% | 2/19 |
| Low-set, posteriorly rotated ears | 5.3% | 1/19 |
| Abnormality of the eye | 47.4% | 9/19 |
| Small palpebral fissure | 26.3% | 5/19 |
| Epicanthus | 31.6% | 6/19 |
| Hypertelorism | 10.5% | 2/19 |
| Low hanging columella | 5.3% | 1/19 |
| Hypotelorism | 5.3% | 1/19 |
| Upper eyelid edema | 5.3% | 1/19 |
| Abnormality of the nose | 68.4% | 13/19 |
| Short nose | 10.5% | 2/19 |
| Underdeveloped nasal alae | 10.5% | 2/19 |
| Prominent nose | 5.3% | 1/19 |
| Low hanging columella | 15.8% | 3/19 |
| Depressed nasal bridge | 5.3% | 1/19 |
| Broad nasal tip | 10.5% | 2/19 |
| Long nose | 5.3% | 1/19 |
| Anteverted nares | 10.5% | 2/19 |
| Prominent nasal bridge | 10.5% | 2/19 |
| Wide nasal bridge | 5.3% | 1/19 |
| Abnormality of the mouth | 73.7% | 14/19 |
| High palate | 21.1% | 4/19 |
| Thin upper lip vermilion | 15.8% | 3/19 |
| Exaggerated cupid's bow | 21.1% | 4/19 |
| Micrognathia | 5.3% | 1/19 |
| Retrognathia | 5.3% | 1/19 |
| Wide mouth | 26.3% | 5/19 |
| Thick vermilion border | 15.8% | 3/19 |
| Downturned corners of mouth | 26.3% | 5/19 |
| Widely spaced teeth | 5.3% | 1/19 |
| Visual and hearing impairments | ||
| Abnormal hearing | 4.3% | 1/23 |
| Unilateral deafness | 4.3% | 1/23 |
| Abnormal vision | 19.0% | 4/21 |
| Astigmatism | 4.8% | 1/21 |
| Strabismus | 9.5% | 2/21 |
| Hypermetropia | 4.8% | 1/21 |
| Visual impairment | 4.8% | 1/21 |
| Esotropia | 4.8% | 1/21 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 13.6% | 3/22 |
| Intermittent diarrhea | 4.5% | 1/22 |
| Abdominal distention | 4.5% | 1/22 |
| Lactose intolerance | 4.5% | 1/22 |
| Constipation | 4.5% | 1/22 |
| Chronic constipation | 4.5% | 1/22 |
| Urogenital | ||
| Abnormality of the urogenital system | 9.1% | 2/22 |
| Urinary incontinence | 4.5% | 1/22 |
| Glandular hypospadias | 4.5% | 1/22 |
| Skeleton | ||
| Skeletal abnormalities | 9.1% | 2/22 |
| Clinodactyly of the 5th finger | 4.5% | 1/22 |
| Clinodactyly of the 4th toe | 4.5% | 1/22 |
| Clinodactyly of the 5th toe | 4.5% | 1/22 |
| Sandal gap | 9.1% | 2/22 |
| Short toe | 4.5% | 1/22 |
| Broad toe | 4.5% | 1/22 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 18.2% | 4/22 |
| Multiple palmar creases | 4.5% | 1/22 |
| Frontal upsweep of hair | 4.5% | 1/22 |
| 2-3 toe syndactyly | 4.5% | 1/22 |
| Widow's peak | 4.5% | 1/22 |
| Supernumerary nipple | 4.5% | 1/22 |
| Sacral dimple | 4.5% | 1/22 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 13.6% | 3/22 |
| Recurrent infections | 9.1% | 2/22 |
| Recurrent otitis media | 4.5% | 1/22 |
| Susceptibility to chickenpox | 4.5% | 1/22 |
| Chronic otitis media | 4.5% | 1/22 |