JARID2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 70.0% | 14/20 |
| Female | 30.0% | 6/20 |
| 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 | 25.0% | 5/20 |
| > P98 : Tall stature | 25.0% | 5/20 |
| Current Weight abnormalities | 20.0% | 4/20 |
| > P98 : Increased body weight | 20.0% | 4/20 |
| Current Head circumference abnormalities | 15.0% | 3/20 |
| > P98 : Macrocephaly | 10.0% | 2/20 |
| < P3 : Microcephaly | 5.0% | 1/20 |
| Neurology | ||
| Neurological abnormalities | 65.0% | 13/20 |
| Muscular hypotonia | 35.0% | 7/20 |
| Gait disturbance | 20.0% | 4/20 |
| Clumsiness | 10.0% | 2/20 |
| Seizures | 10.0% | 2/20 |
| Absence seizures | 5.0% | 1/20 |
| Bradykinesia | 5.0% | 1/20 |
| Cognitive impairment | 5.0% | 1/20 |
| Epileptic encephalopathy | 5.0% | 1/20 |
| Focal seizures | 5.0% | 1/20 |
| Frequent falls | 5.0% | 1/20 |
| Neurological speech impairment | 5.0% | 1/20 |
| Sleep disturbance | 5.0% | 1/20 |
| Spasticity | 5.0% | 1/20 |
| Speech apraxia | 5.0% | 1/20 |
| Torticollis | 5.0% | 1/20 |
| Behavioral problems | 60.0% | 12/20 |
| Autistic behavior | 30.0% | 6/20 |
| Aggressive behavior | 20.0% | 4/20 |
| Autism | 20.0% | 4/20 |
| Obsessive-compulsive behavior | 15.0% | 3/20 |
| Abnormal social behavior | 10.0% | 2/20 |
| Absent speech | 5.0% | 1/20 |
| Attention deficit hyperactivity disorder | 5.0% | 1/20 |
| Perseveration | 5.0% | 1/20 |
| Psychotic episodes | 5.0% | 1/20 |
| Stereotypic behavior | 5.0% | 1/20 |
| Urinary incontinence | 5.0% | 1/20 |
| Brain abnormality | 45.5% | 5/11 |
| Abnormal myelination | 9.1% | 1/11 |
| Abnormality of the periventricular white matter | 9.1% | 1/11 |
| Arachnoid cyst | 9.1% | 1/11 |
| Enlarged cisterna magna | 9.1% | 1/11 |
| Hydrocephalus | 9.1% | 1/11 |
| Posterior fossa cyst | 9.1% | 1/11 |
| Facial abnormalities | ||
| Abnormality of the ear | 20.0% | 4/20 |
| Protruding ear | 15.0% | 3/20 |
| Low-set ears | 5.0% | 1/20 |
| Abnormality of the eye | 70.0% | 14/20 |
| Deeply set eye | 40.0% | 8/20 |
| Periorbital hyperpigmentation | 35.0% | 7/20 |
| Prominent supraorbital ridges | 20.0% | 4/20 |
| Downslanted palpebral fissures | 10.0% | 2/20 |
| Upslanted palpebral fissure | 10.0% | 2/20 |
| Blue irides | 5.0% | 1/20 |
| Epicanthus | 5.0% | 1/20 |
| Hypertelorism | 5.0% | 1/20 |
| Hypotelorism | 5.0% | 1/20 |
| Microphthalmia | 5.0% | 1/20 |
| Ptosis | 5.0% | 1/20 |
| Abnormality of the nose | 55.0% | 11/20 |
| Bulbous nose | 35.0% | 7/20 |
| Depressed nasal bridge | 25.0% | 5/20 |
| Broad nasal tip | 5.0% | 1/20 |
| Prominent nasal bridge | 5.0% | 1/20 |
| Wide nasal bridge | 5.0% | 1/20 |
| Abnormality of the mouth | 60.0% | 12/20 |
| Thick vermilion border | 30.0% | 6/20 |
| Exaggerated cupid's bow | 10.0% | 2/20 |
| Abnormality of incisor morphology | 5.0% | 1/20 |
| Bifid uvula | 5.0% | 1/20 |
| Hypodontia | 5.0% | 1/20 |
| Increased number of teeth | 5.0% | 1/20 |
| Irregularly spaced teeth | 5.0% | 1/20 |
| Retrognathia | 5.0% | 1/20 |
| Submucous cleft hard palate | 5.0% | 1/20 |
| Visual and hearing impairments | ||
| Abnormal vision | 20.0% | 4/20 |
| Hypermetropia | 10.0% | 2/20 |
| Strabismus | 10.0% | 2/20 |
| Amblyopia | 5.0% | 1/20 |
| Esotropia | 5.0% | 1/20 |
| Myopia | 5.0% | 1/20 |
| Heart | ||
| Abnormality of the heart | 15.0% | 3/20 |
| Abnormal heart morphology | 5.0% | 1/20 |
| Heart murmur | 5.0% | 1/20 |
| Tricuspid regurgitation | 5.0% | 1/20 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 5.0% | 1/20 |
| Constipation | 5.0% | 1/20 |
| Gastroesophageal reflux | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 25.0% | 5/20 |
| Cryptorchidism | 10.0% | 2/20 |
| Abnormality of the testis | 5.0% | 1/20 |
| Neurogenic bladder | 5.0% | 1/20 |
| Spastic/hyperactive bladder | 5.0% | 1/20 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 10/20 |
| Joint laxity | 15.0% | 3/20 |
| Pes planus | 10.0% | 2/20 |
| Camptodactyly | 5.0% | 1/20 |
| Clinodactyly of the 4th toe | 5.0% | 1/20 |
| Clinodactyly of the 5th toe | 5.0% | 1/20 |
| Kyphoscoliosis | 5.0% | 1/20 |
| Scoliosis | 5.0% | 1/20 |
| Shoulder subluxation | 5.0% | 1/20 |
| Subluxation of the small joints of the hand | 5.0% | 1/20 |
| Tapered finger | 5.0% | 1/20 |
| 2-3 toe syndactyly | 5.0% | 1/20 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 60.0% | 12/20 |
| High anterior hairline | 45.0% | 9/20 |
| Prominent fingertip pads | 10.0% | 2/20 |
| Sparse eyebrow | 10.0% | 2/20 |
| Thick eyebrow | 10.0% | 2/20 |
| Abnormality of subcutaneous fat tissue | 5.0% | 1/20 |
| Acanthosis nigricans | 5.0% | 1/20 |
| Few cafe-au-lait spots | 5.0% | 1/20 |
| Hypertrichosis | 5.0% | 1/20 |
| Inverted nipples | 5.0% | 1/20 |
| Single transverse palmar crease | 5.0% | 1/20 |
| Supernumerary nipple | 5.0% | 1/20 |
| Synophrys | 5.0% | 1/20 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 5.0% | 1/20 |
| Hypothyroidism | 5.0% | 1/20 |
| Abnormality of the immune system | 15.0% | 3/20 |
| Recurrent urinary tract infections | 10.0% | 2/20 |
| Recurrent otitis media | 5.0% | 1/20 |