YY1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 44.4% | 8/18 |
| Female | 55.6% | 10/18 |
| Indifferent | 0% | 0/18 |
| Unknown | 0% | 0/18 |
| General | ||
| Birth Length abnormalities | 25.0% | 2/8 |
| < P3 : Birth length less than 3rd percentile | 12.5% | 1/8 |
| > P98 : Birth length greater than 97th percentile | 12.5% | 1/8 |
| Birth Weight abnormalities | 18.8% | 3/16 |
| < P3 : Small for gestational age | 12.5% | 2/16 |
| > P98 : Large for gestational age | 6.3% | 1/16 |
| Birth Head circumference abnormalities | 14.3% | 1/7 |
| > P98 : Macrocephaly at birth | 14.3% | 1/7 |
| Current Height abnormalities | 23.5% | 4/17 |
| < P3 : Short stature | 17.6% | 3/17 |
| > P98 : Tall stature | 5.9% | 1/17 |
| Current Weight abnormalities | 37.5% | 6/16 |
| < P3 : Decreased body weight | 25.0% | 4/16 |
| > P98 : Increased body weight | 12.5% | 2/16 |
| Current Head circumference abnormalities | 10.5% | 2/19 |
| < P3 : Microcephaly | 10.5% | 2/19 |
| Neurology | ||
| Neurological abnormalities | 70.6% | 12/17 |
| Dystonia | 17.6% | 3/17 |
| Muscular hypotonia | 17.6% | 3/17 |
| Delayed speech and language development | 5.9% | 1/17 |
| Delayed fine motor development | 5.9% | 1/17 |
| Distal lower limb amyotrophy | 5.9% | 1/17 |
| Entrapment neuropathy | 5.9% | 1/17 |
| Febrile seizures | 5.9% | 1/17 |
| Generalized tonic seizures | 5.9% | 1/17 |
| Macrocephaly | 5.9% | 1/17 |
| Neonatal hypotonia | 5.9% | 1/17 |
| Specific learning disability | 5.9% | 1/17 |
| Stridor | 5.9% | 1/17 |
| Toe walking | 5.9% | 1/17 |
| Torticollis | 5.9% | 1/17 |
| Tremor | 5.9% | 1/17 |
| Unsteady gait | 5.9% | 1/17 |
| Waddling gait | 5.9% | 1/17 |
| Behavioral problems | 58.8% | 10/17 |
| Attention deficit hyperactivity disorder | 17.6% | 3/17 |
| Anxiety | 11.8% | 2/17 |
| Autism | 11.8% | 2/17 |
| Sleep disturbance | 11.8% | 2/17 |
| Low frustration tolerance | 5.9% | 1/17 |
| Short attention span | 5.9% | 1/17 |
| Stereotypic behavior | 5.9% | 1/17 |
| Brain abnormality | 53.8% | 7/13 |
| Abnormality of lateral ventricle | 7.7% | 1/13 |
| Abnormality of the cerebral ventricles | 7.7% | 1/13 |
| Cerebral white matter atrophy | 7.7% | 1/13 |
| Cortical dysplasia | 7.7% | 1/13 |
| Delayed myelination | 7.7% | 1/13 |
| Dilation of lateral ventricles | 7.7% | 1/13 |
| Encephalomalacia | 7.7% | 1/13 |
| Focal white matter lesions | 7.7% | 1/13 |
| Gliosis | 7.7% | 1/13 |
| Widened subarachnoid space | 7.7% | 1/13 |
| Facial abnormalities | ||
| Abnormality of the ear | 82.4% | 14/17 |
| Abnormality of the pinna | 41.2% | 7/17 |
| Posteriorly rotated ears | 41.2% | 7/17 |
| Low-set ears | 11.8% | 2/17 |
| Protruding ear | 11.8% | 2/17 |
| Abnormality of cartilage of external ear | 5.9% | 1/17 |
| Attached earlobe | 5.9% | 1/17 |
| Abnormality of the eye | 72.2% | 13/18 |
| Downslanted palpebral fissures | 27.8% | 5/18 |
| Strabismus | 27.8% | 5/18 |
| Deeply set eye | 5.6% | 1/18 |
| Epicanthus | 5.6% | 1/18 |
| Myopia | 5.6% | 1/18 |
| Periorbital fullness | 5.6% | 1/18 |
| Prominent epicanthal folds | 5.6% | 1/18 |
| Ptosis | 5.6% | 1/18 |
| Telecanthus | 5.6% | 1/18 |
| Upslanted palpebral fissure | 5.6% | 1/18 |
| Abnormality of the nose | 61.1% | 11/18 |
| Bulbous nose | 44.4% | 8/18 |
| Broad nasal tip | 5.6% | 1/18 |
| Wide nose | 5.6% | 1/18 |
| Abnormality of the mouth | 83.3% | 15/18 |
| Thick lower lip vermilion | 50.0% | 9/18 |
| Abnormality of upper lip | 27.8% | 5/18 |
| Abnormality of the teeth | 11.1% | 2/18 |
| Abnormality of lower lip | 5.6% | 1/18 |
| Downturned corners of mouth | 5.6% | 1/18 |
| Micrognathia | 5.6% | 1/18 |
| Narrow mouth | 5.6% | 1/18 |
| Paramedian lip pit | 5.6% | 1/18 |
| Retrognathia | 5.6% | 1/18 |
| Submucous cleft soft palate | 5.6% | 1/18 |
| Thick upper lip vermilion | 5.6% | 1/18 |
| Thin upper lip vermilion | 5.6% | 1/18 |
| Velopharyngeal insufficiency | 5.6% | 1/18 |
| Visual and hearing impairments | ||
| Abnormal hearing | 5.9% | 1/17 |
| Conductive hearing impairment | 5.9% | 1/17 |
| Abnormal vision | 23.5% | 4/17 |
| Hypermetropia | 11.8% | 2/17 |
| Astigmatism | 5.9% | 1/17 |
| Myopia | 5.9% | 1/17 |
| Nystagmus | 5.9% | 1/17 |
| Strabismus | 5.9% | 1/17 |
| Heart | ||
| Abnormality of the heart | 29.4% | 5/17 |
| Atria septal defect | 5.9% | 1/17 |
| Cardiomyopathy | 5.9% | 1/17 |
| Congenital malformation of the great arteries | 5.9% | 1/17 |
| Ebstein's anomaly of the tricuspid valve | 5.9% | 1/17 |
| Generalized amyloid deposition | 5.9% | 1/17 |
| Mitral regurgitation | 5.9% | 1/17 |
| Patent foramen ovale | 5.9% | 1/17 |
| Pulmonary artery stenosis | 5.9% | 1/17 |
| Sinus tachycardia | 5.9% | 1/17 |
| Ventricular septal defect | 5.9% | 1/17 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 70.6% | 12/17 |
| Feeding difficulties | 52.9% | 9/17 |
| Abnormality of the esophagus | 5.9% | 1/17 |
| Chewing difficulties | 5.9% | 1/17 |
| Dysphagia | 5.9% | 1/17 |
| Esophageal atresia | 5.9% | 1/17 |
| Feeding difficulties in infancy | 5.9% | 1/17 |
| Gastrostomy tube feeding in infancy | 5.9% | 1/17 |
| Hepatic fibrosis | 5.9% | 1/17 |
| Urogenital | ||
| Abnormality of the urogenital system | 26.7% | 4/15 |
| Hydronephrosis | 20.0% | 3/15 |
| Bilateral cryptorchidism | 6.7% | 1/15 |
| Coronal hypospadias | 6.7% | 1/15 |
| Ureteral stenosis | 6.7% | 1/15 |
| Skeleton | ||
| Skeletal abnormalities | 66.7% | 12/18 |
| Increased laxity of fingers | 11.1% | 2/18 |
| Long fingers | 11.1% | 2/18 |
| Camptodactyly of finger | 5.6% | 1/18 |
| Clinodactyly of the 5th finger | 5.6% | 1/18 |
| Distal lower limb amyotrophy | 5.6% | 1/18 |
| Distal arthrogryposis | 5.6% | 1/18 |
| Generalized joint laxity | 5.6% | 1/18 |
| Hallux valgus | 5.6% | 1/18 |
| Hip dysplasia | 5.6% | 1/18 |
| Joint hypermobility | 5.6% | 1/18 |
| Lumbar hyperlordosis | 5.6% | 1/18 |
| Patellar subluxation | 5.6% | 1/18 |
| Pectus excavatum | 5.6% | 1/18 |
| Pes planus | 5.6% | 1/18 |
| Sandal gap | 5.6% | 1/18 |
| Scoliosis | 5.6% | 1/18 |
| Thoracolumbar scoliosis | 5.6% | 1/18 |
| Thoracolumbar kyphoscoliosis | 5.6% | 1/18 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 44.4% | 8/18 |
| Abnormality of hair texture | 5.6% | 1/18 |
| Facial hirsutism | 5.6% | 1/18 |
| Few cafe-au-lait spots | 5.6% | 1/18 |
| Frontal upsweep of hair | 5.6% | 1/18 |
| Hyperextensible skin | 5.6% | 1/18 |
| Soft skin | 5.6% | 1/18 |
| Striae distensae | 5.6% | 1/18 |
| Sydney crease | 5.6% | 1/18 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 41.2% | 7/17 |
| Hypothyroidism | 11.8% | 2/17 |
| Congenital hypothyroidism | 5.9% | 1/17 |
| Diabetes mellitus | 5.9% | 1/17 |
| Growth hormone deficiency | 5.9% | 1/17 |
| Hyperthyroidism | 5.9% | 1/17 |
| Polycystic ovaries | 5.9% | 1/17 |
| Precocious puberty in females | 5.9% | 1/17 |
| Abnormality of the metabolic system | 5.9% | 1/17 |
| Childhood-onset truncal obesity | 5.9% | 1/17 |
| Sleep apnea | 5.9% | 1/17 |
| Abnormality of the immune system | 11.8% | 2/17 |
| Recurrent infections | 11.8% | 2/17 |
| Neoplasia | ||
| Neoplasia | 5.6% | 1/18 |
| Neuroblastoma | 5.6% | 1/18 |