DYRK1A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 56.3% | 9/16 |
| Female | 43.8% | 7/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length abnormalities | 0% | 0/9 |
| Birth Weight abnormalities | 22.2% | 2/9 |
| < P3 : Small for gestational age | 22.2% | 2/9 |
| Birth Head circumference abnormalities | 11.1% | 1/9 |
| < P3 : Congenital microcephaly | 11.1% | 1/9 |
| Current Height abnormalities | 36.4% | 4/11 |
| < P3 : Short stature | 36.4% | 4/11 |
| Current Weight abnormalities | 22.2% | 2/9 |
| > P98 : Increased body weight | 11.1% | 1/9 |
| < P3 : Decreased body weight | 11.1% | 1/9 |
| Current Head circumference abnormalities | 93.3% | 14/15 |
| < P3 : Microcephaly | 93.3% | 14/15 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 16/16 |
| Febrile seizures | 62.5% | 10/16 |
| Gait disturbance | 37.5% | 6/16 |
| Global developmental delay | 31.3% | 5/16 |
| Hypertonia | 31.3% | 5/16 |
| Epileptic spasms | 18.8% | 3/16 |
| obsolete Mental retardation, in some | 18.8% | 3/16 |
| Seizures | 18.8% | 3/16 |
| Mild receptive language delay | 12.5% | 2/16 |
| Abnormality of the cerebellar vermis | 6.3% | 1/16 |
| Absent speech | 6.3% | 1/16 |
| Aplasia/Hypoplasia of the corpus callosum | 6.3% | 1/16 |
| Expressive language delay | 6.3% | 1/16 |
| Severe expressive language delay | 6.3% | 1/16 |
| Behavioral problems | 100.0% | 13/13 |
| Autism | 53.8% | 7/13 |
| Stereotypic behavior | 38.5% | 5/13 |
| Anxiety | 30.8% | 4/13 |
| Abnormal fear/anxiety-related behavior | 23.1% | 3/13 |
| Autistic behavior | 23.1% | 3/13 |
| Hyperactivity | 23.1% | 3/13 |
| Sleep disturbance | 15.4% | 2/13 |
| Abnormal aggressive, impulsive or violent behavior | 7.7% | 1/13 |
| Apathy | 7.7% | 1/13 |
| Brain abnormality | 57.1% | 8/14 |
| Microcephaly | 42.9% | 6/14 |
| Abnormal myelination | 7.1% | 1/14 |
| Abnormality of the cerebellar vermis | 7.1% | 1/14 |
| Abnormality of the corpus callosum | 7.1% | 1/14 |
| Aplasia/Hypoplasia of the corpus callosum | 7.1% | 1/14 |
| Brain atrophy | 7.1% | 1/14 |
| Dilation of lateral ventricles | 7.1% | 1/14 |
| Facial abnormalities | ||
| Abnormality of the ear | 71.4% | 5/7 |
| Abnormality of the auditory canal | 14.3% | 1/7 |
| Absent earlobe | 14.3% | 1/7 |
| Anteverted ears | 14.3% | 1/7 |
| Large fleshy ears | 14.3% | 1/7 |
| Prominent ear helix | 14.3% | 1/7 |
| Abnormality of the eye | 100.0% | 7/7 |
| Deeply set eye | 57.1% | 4/7 |
| Downslanted palpebral fissures | 28.6% | 2/7 |
| Long eyelashes | 28.6% | 2/7 |
| Hypertelorism | 14.3% | 1/7 |
| Periorbital fullness | 14.3% | 1/7 |
| Proptosis | 14.3% | 1/7 |
| Strabismus | 14.3% | 1/7 |
| Abnormality of the nose | 100.0% | 6/6 |
| Prominent nasal bridge | 50.0% | 3/6 |
| Abnormality of the columella | 16.7% | 1/6 |
| Narrow nose | 16.7% | 1/6 |
| Prominent nose | 16.7% | 1/6 |
| Short nose | 16.7% | 1/6 |
| Short philtrum | 16.7% | 1/6 |
| Abnormality of the mouth | 71.4% | 5/7 |
| Tented upper lip vermilion | 28.6% | 2/7 |
| Wide mouth | 28.6% | 2/7 |
| Abnormality of the teeth | 14.3% | 1/7 |
| Ankyloglossia | 14.3% | 1/7 |
| High, narrow palate | 14.3% | 1/7 |
| Overbite | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 9.1% | 1/11 |
| Hearing impairment | 9.1% | 1/11 |
| Abnormal vision | 27.3% | 3/11 |
| Abnormality of vision | 9.1% | 1/11 |
| Astigmatism | 9.1% | 1/11 |
| Posterior vitreous detachment | 9.1% | 1/11 |
| Heart | ||
| Abnormality of the heart | 15.4% | 2/13 |
| Aortic regurgitation | 7.7% | 1/13 |
| Thoracic aorta calcification | 7.7% | 1/13 |
| Ventricular septal defect | 7.7% | 1/13 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 26.7% | 4/15 |
| Gastroesophageal reflux | 13.3% | 2/15 |
| Abnormality of the intestine | 6.7% | 1/15 |
| Feeding difficulties | 6.7% | 1/15 |
| Feeding difficulties in infancy | 6.7% | 1/15 |
| Urogenital | ||
| Abnormality of the urogenital system | 7.7% | 1/13 |
| Hydrocele testis | 7.7% | 1/13 |
| Skeleton | ||
| Skeletal abnormalities | 73.3% | 11/15 |
| Abnormality of the foot | 26.7% | 4/15 |
| Long hallux | 13.3% | 2/15 |
| Pes cavus | 13.3% | 2/15 |
| Short toe | 13.3% | 2/15 |
| 2-4 toe cutaneous syndactyly | 13.3% | 2/15 |
| Arachnodactyly | 6.7% | 1/15 |
| Bowing of the legs | 6.7% | 1/15 |
| Camptodactyly of toe | 6.7% | 1/15 |
| Clinodactyly of the 4th toe | 6.7% | 1/15 |
| Clinodactyly of the 5th finger | 6.7% | 1/15 |
| Clinodactyly of the 5th toe | 6.7% | 1/15 |
| Clinodactyly of the 4th finger | 6.7% | 1/15 |
| Cutaneous finger syndactyly | 6.7% | 1/15 |
| Exostoses | 6.7% | 1/15 |
| Hallux valgus | 6.7% | 1/15 |
| Hyperlordosis | 6.7% | 1/15 |
| Kyphosis | 6.7% | 1/15 |
| Kyphoscoliosis | 6.7% | 1/15 |
| Osteochondrosis | 6.7% | 1/15 |
| Pectus excavatum | 6.7% | 1/15 |
| Scoliosis | 6.7% | 1/15 |
| Small hand | 6.7% | 1/15 |
| Spina bifida | 6.7% | 1/15 |
| 2-3 finger syndactyly | 6.7% | 1/15 |
| 2-3 toe syndactyly | 6.7% | 1/15 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 26.7% | 4/15 |
| Delayed eruption of permanent teeth | 6.7% | 1/15 |
| Delayed eruption of teeth | 6.7% | 1/15 |
| Eczema | 6.7% | 1/15 |
| Increased number of teeth | 6.7% | 1/15 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 7.7% | 1/13 |
| Gastroesophageal reflux | 7.7% | 1/13 |