CDK10
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 72.7% | 8/11 |
| Female | 27.3% | 3/11 |
| Indifferent | 0% | 0/11 |
| Unknown | 0% | 0/11 |
| General | ||
| Birth Length abnormalities | 27.3% | 3/11 |
| < P3 : Birth length less than 3rd percentile | 27.3% | 3/11 |
| Birth Weight abnormalities | 18.2% | 2/11 |
| < P3 : Small for gestational age | 18.2% | 2/11 |
| Birth Head circumference abnormalities | 9.1% | 1/11 |
| < P3 : Primary microcephaly | 9.1% | 1/11 |
| Current Height abnormalities | 63.6% | 7/11 |
| < P3 : Short stature | 63.6% | 7/11 |
| Current Weight abnormalities | 72.7% | 8/11 |
| < P3 : Decreased body weight | 72.7% | 8/11 |
| Current Head circumference abnormalities | 54.5% | 6/11 |
| < P3 : Microcephaly | 45.5% | 5/11 |
| > P98 : Macrocephaly | 9.1% | 1/11 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Broad-based gait | 40.0% | 2/5 |
| Autism | 20.0% | 1/5 |
| Generalized hypotonia | 20.0% | 1/5 |
| Muscle weakness | 20.0% | 1/5 |
| Behavioral problems | 100.0% | 4/4 |
| Hyperactivity | 50.0% | 2/4 |
| Overfriendliness | 25.0% | 1/4 |
| Short attention span | 25.0% | 1/4 |
| Brain abnormality | 62.5% | 5/8 |
| Agenesis of corpus callosum | 37.5% | 3/8 |
| Abnormal corpus callosum morphology | 25.0% | 2/8 |
| Cerebral atrophy | 12.5% | 1/8 |
| Holoprosencephaly | 12.5% | 1/8 |
| Hydrocephalus | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 9/9 |
| obsolete Low-set, posteriorly rotated ears | 100.0% | 9/9 |
| Small earlobe | 22.2% | 2/9 |
| Angulated antihelix | 11.1% | 1/9 |
| Prominent antihelix | 11.1% | 1/9 |
| Abnormality of the eye | 100.0% | 10/10 |
| obsolete Prominent epicanthal folds | 80.0% | 8/10 |
| Telecanthus | 80.0% | 8/10 |
| Downslanted palpebral fissures | 40.0% | 4/10 |
| Hypertelorism | 20.0% | 2/10 |
| Ptosis | 20.0% | 2/10 |
| Upslanted palpebral fissure | 20.0% | 2/10 |
| Broad eyebrow | 10.0% | 1/10 |
| Myopia | 10.0% | 1/10 |
| Rod-cone dystrophy | 10.0% | 1/10 |
| Strabismus | 10.0% | 1/10 |
| Synophrys | 10.0% | 1/10 |
| Abnormality of the nose | 100.0% | 10/10 |
| Broad nasal tip | 80.0% | 8/10 |
| Depressed nasal bridge | 50.0% | 5/10 |
| Wide nasal bridge | 50.0% | 5/10 |
| Abnormality of the mouth | 100.0% | 11/11 |
| Long philtrum | 90.9% | 10/11 |
| High palate | 36.4% | 4/11 |
| Smooth philtrum | 36.4% | 4/11 |
| Short chin | 27.3% | 3/11 |
| Macrodontia | 18.2% | 2/11 |
| Pointed chin | 18.2% | 2/11 |
| Thin upper lip vermilion | 18.2% | 2/11 |
| Micrognathia | 9.1% | 1/11 |
| Narrow mouth | 9.1% | 1/11 |
| Solitary median maxillary central incisor | 9.1% | 1/11 |
| Thin lower lip vermilion | 9.1% | 1/11 |
| Visual and hearing impairments | ||
| Abnormal hearing | 50.0% | 1/2 |
| Sensorineural hearing impairment | 50.0% | 1/2 |
| Heart | ||
| Abnormality of the heart | 66.7% | 2/3 |
| Atrial septal defect | 33.3% | 1/3 |
| Left ventricular noncompaction cardiomyopathy | 33.3% | 1/3 |
| Pulmonary artery stenosis | 33.3% | 1/3 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 3/3 |
| Asthma | 33.3% | 1/3 |
| Pneumonia | 33.3% | 1/3 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 1/2 |
| Gastroesophageal reflux | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 66.7% | 2/3 |
| Cryptorchidism | 33.3% | 1/3 |
| Multicystic kidney dysplasia | 33.3% | 1/3 |
| Shawl scrotum | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 90.0% | 9/10 |
| Small hand | 80.0% | 8/10 |
| Joint hypermobility | 40.0% | 4/10 |
| Pes planus | 40.0% | 4/10 |
| Torticollis | 20.0% | 2/10 |
| Abnormal coccyx morphology | 10.0% | 1/10 |
| Abnormality of the clivus | 10.0% | 1/10 |
| Anterior clefting of vertebral bodies | 10.0% | 1/10 |
| Atlantoaxial instability | 10.0% | 1/10 |
| Broad hallux | 10.0% | 1/10 |
| Cervical segmentation defect | 10.0% | 1/10 |
| Cervical C3/C4 vertebral fusion | 10.0% | 1/10 |
| Clinodactyly of the 5th finger | 10.0% | 1/10 |
| Fused cervical vertebrae | 10.0% | 1/10 |
| Generalized joint hypermobility | 10.0% | 1/10 |
| Mild postnatal growth retardation | 10.0% | 1/10 |
| Osteoporosis | 10.0% | 1/10 |
| Vertebral clefting | 10.0% | 1/10 |
| Vertebral fusion | 10.0% | 1/10 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 8/8 |
| Deep palmar crease | 50.0% | 4/8 |
| Skin rash | 37.5% | 3/8 |
| Cutis marmorata | 25.0% | 2/8 |
| Soft, doughy skin | 25.0% | 2/8 |
| Abnormal hair whorl | 12.5% | 1/8 |
| Hypertrichosis | 12.5% | 1/8 |
| Palmoplantar hyperkeratosis | 12.5% | 1/8 |
| Prominent umbilicus | 12.5% | 1/8 |
| Single transverse palmar crease | 12.5% | 1/8 |
| Thick hair | 12.5% | 1/8 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 60.0% | 3/5 |
| Hyperthyroidism | 40.0% | 2/5 |
| Recurrent lower respiratory tract infections | 40.0% | 2/5 |
| Recurrent upper respiratory tract infections | 20.0% | 1/5 |