ANKRD17
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 52.4% | 11/21 |
| Female | 47.6% | 10/21 |
| Indifferent | 0% | 0/21 |
| Unknown | 0% | 0/21 |
| General | ||
| Birth Length abnormalities | 9.5% | 2/21 |
| < P3 : Birth length less than 3rd percentile | 9.5% | 2/21 |
| Birth Weight abnormalities | 23.8% | 5/21 |
| > P98 : Large for gestational age | 4.8% | 1/21 |
| < P3 : Small for gestational age | 19.0% | 4/21 |
| Birth Head circumference abnormalities | 4.8% | 1/21 |
| < P3 : Congenital microcephaly | 4.8% | 1/21 |
| Current Height abnormalities | 47.6% | 10/21 |
| < P3 : Short stature | 47.6% | 10/21 |
| Current Weight abnormalities | 33.3% | 7/21 |
| < P3 : Decreased body weight | 33.3% | 7/21 |
| Current Head circumference abnormalities | 33.3% | 7/21 |
| < P3 : Microcephaly | 19.0% | 4/21 |
| > P98 : Macrocephaly | 14.3% | 3/21 |
| Neurology | ||
| Neurological abnormalities | 65.0% | 13/20 |
| EEG abnormality | 20.0% | 4/20 |
| Gait imbalance | 15.0% | 3/20 |
| Generalized tonic-clonic seizures | 15.0% | 3/20 |
| Generalized myoclonic seizures | 10.0% | 2/20 |
| Generalized tonic seizures | 10.0% | 2/20 |
| Global developmental delay | 10.0% | 2/20 |
| Absence seizures | 5.0% | 1/20 |
| Attention deficit hyperactivity disorder | 5.0% | 1/20 |
| Autism | 5.0% | 1/20 |
| EEG with frontal focal spikes | 5.0% | 1/20 |
| Febrile seizures | 5.0% | 1/20 |
| Focal tonic seizures | 5.0% | 1/20 |
| Gait ataxia | 5.0% | 1/20 |
| Infantile axial hypotonia | 5.0% | 1/20 |
| Limb hypertonia | 5.0% | 1/20 |
| Mild global developmental delay | 5.0% | 1/20 |
| Moderate global developmental delay | 5.0% | 1/20 |
| Muscular hypotonia | 5.0% | 1/20 |
| Optic nerve hypoplasia | 5.0% | 1/20 |
| Severe global developmental delay | 5.0% | 1/20 |
| Spasticity | 5.0% | 1/20 |
| Spinalarachnoid cyst | 5.0% | 1/20 |
| Behavioral problems | 40.0% | 8/20 |
| Abnormal eating behavior | 15.0% | 3/20 |
| Attention deficit hyperactivity disorder | 10.0% | 2/20 |
| Stereotypic behavior | 10.0% | 2/20 |
| Anxiety | 5.0% | 1/20 |
| Autism | 5.0% | 1/20 |
| Depression | 5.0% | 1/20 |
| Hyperactivity | 5.0% | 1/20 |
| Irritability | 5.0% | 1/20 |
| Lack of peer relationships | 5.0% | 1/20 |
| Low frustration tolerance | 5.0% | 1/20 |
| Oppositional defiant disorder | 5.0% | 1/20 |
| Restlessness | 5.0% | 1/20 |
| Brain abnormality | 40.0% | 6/15 |
| Abnormality of the cerebral white matter | 20.0% | 3/15 |
| Abnormality of the corpus callosum | 13.3% | 2/15 |
| Aplasia/Hypoplasia of the optic nerve | 6.7% | 1/15 |
| Arachnoid cyst | 6.7% | 1/15 |
| Focal white matter lesions | 6.7% | 1/15 |
| Gliosis | 6.7% | 1/15 |
| Macrocephaly | 6.7% | 1/15 |
| Microcephaly | 6.7% | 1/15 |
| Mild microcephaly | 6.7% | 1/15 |
| Pineal cyst | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 42.1% | 8/19 |
| Macrotia | 10.5% | 2/19 |
| Anteverted ears | 5.3% | 1/19 |
| Enlarged vestibular aqueduct | 5.3% | 1/19 |
| Low-set, posteriorly rotated ears | 5.3% | 1/19 |
| Morphological abnormality of the lateral semicircular canal | 5.3% | 1/19 |
| Preauricular pit | 5.3% | 1/19 |
| Protruding ear | 5.3% | 1/19 |
| Thin ear helix | 5.3% | 1/19 |
| Unilateral external ear deformity | 5.3% | 1/19 |
| Abnormality of the eye | 63.2% | 12/19 |
| Deeply set eye | 31.6% | 6/19 |
| Upslanted palpebral fissure | 15.8% | 3/19 |
| Small palpebral fissure | 10.5% | 2/19 |
| Epicanthus | 5.3% | 1/19 |
| Epicanthus inversus | 5.3% | 1/19 |
| Hypertelorism | 5.3% | 1/19 |
| Long palpebral fissure | 5.3% | 1/19 |
| Periorbital fullness | 5.3% | 1/19 |
| Abnormality of the nose | 42.1% | 8/19 |
| Depressed nasal bridge | 10.5% | 2/19 |
| Prominent nasal bridge | 10.5% | 2/19 |
| Thick nasal alae | 10.5% | 2/19 |
| Anteverted nares | 5.3% | 1/19 |
| Broad nasal tip | 5.3% | 1/19 |
| Flared nostrils | 5.3% | 1/19 |
| Narrow nasal bridge | 5.3% | 1/19 |
| Short nose | 5.3% | 1/19 |
| Wide nasal base | 5.3% | 1/19 |
| Abnormality of the mouth | 57.9% | 11/19 |
| Thin upper lip vermilion | 31.6% | 6/19 |
| High palate | 10.5% | 2/19 |
| Wide mouth | 10.5% | 2/19 |
| Delayed eruption of teeth | 5.3% | 1/19 |
| Dental crowding | 5.3% | 1/19 |
| Microretrognathia | 5.3% | 1/19 |
| Retrognathia | 5.3% | 1/19 |
| Short chin | 5.3% | 1/19 |
| Thin lower lip vermilion | 5.3% | 1/19 |
| Unilateral cleft lip | 5.3% | 1/19 |
| Visual and hearing impairments | ||
| Abnormal hearing | 15.4% | 2/13 |
| Bilateral sensorineural hearing impairment | 7.7% | 1/13 |
| Tinnitus | 7.7% | 1/13 |
| Abnormal vision | 58.3% | 7/12 |
| Hypermetropia | 25.0% | 3/12 |
| Myopia | 16.7% | 2/12 |
| Strabismus | 16.7% | 2/12 |
| Alternating esotropia | 8.3% | 1/12 |
| Anisometropia | 8.3% | 1/12 |
| Astigmatism | 8.3% | 1/12 |
| Optic nerve hypoplasia | 8.3% | 1/12 |
| Unilateral strabismus | 8.3% | 1/12 |
| Heart | ||
| Abnormality of the heart | 10.0% | 2/20 |
| Abnormality of the aortic valve | 5.0% | 1/20 |
| Patent foramen ovale | 5.0% | 1/20 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 15.0% | 3/20 |
| Gastrostomy tube feeding in infancy | 10.0% | 2/20 |
| Gastroesophageal reflux | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 14.3% | 3/21 |
| Cryptorchidism | 4.8% | 1/21 |
| Pollakisuria | 4.8% | 1/21 |
| Unilateral renal agenesis | 4.8% | 1/21 |
| Skeleton | ||
| Skeletal abnormalities | 60.0% | 12/20 |
| Delayed skeletal maturation | 15.0% | 3/20 |
| Abnormality of the palmar creases | 5.0% | 1/20 |
| Atrophy of alveolar ridges | 5.0% | 1/20 |
| Clinodactyly of the 5th finger | 5.0% | 1/20 |
| Clinodactyly of the 5th toe | 5.0% | 1/20 |
| Deviation of the 4th toe | 5.0% | 1/20 |
| Dysharmonic delayed bone age | 5.0% | 1/20 |
| Generalized joint laxity | 5.0% | 1/20 |
| Hallux valgus | 5.0% | 1/20 |
| Hypermobility of distal interphalangeal joints | 5.0% | 1/20 |
| Joint hypermobility | 5.0% | 1/20 |
| Macrocephaly | 5.0% | 1/20 |
| Microcephaly | 5.0% | 1/20 |
| Mild microcephaly | 5.0% | 1/20 |
| Pes planus | 5.0% | 1/20 |
| Plagiocephaly | 5.0% | 1/20 |
| Prominent fingertip pads | 5.0% | 1/20 |
| Scoliosis | 5.0% | 1/20 |
| Short foot | 5.0% | 1/20 |
| Short 3rd toe | 5.0% | 1/20 |
| Short 5th finger | 5.0% | 1/20 |
| Small hand | 5.0% | 1/20 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 45.0% | 9/20 |
| Cutis marmorata | 5.0% | 1/20 |
| Fine hair | 5.0% | 1/20 |
| Hyperpigmentation of the skin | 5.0% | 1/20 |
| Preauricular skin tag | 5.0% | 1/20 |
| Progressive vitiligo | 5.0% | 1/20 |
| Sacral dimple | 5.0% | 1/20 |
| Single transverse palmar crease | 5.0% | 1/20 |
| Slow-growing nails | 5.0% | 1/20 |
| Small nail | 5.0% | 1/20 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 5.6% | 1/18 |
| Hypothyroidism | 5.6% | 1/18 |
| Abnormality of the metabolic system | 16.7% | 3/18 |
| Abnormality of the liver | 5.6% | 1/18 |
| Fasting hypoglycemia | 5.6% | 1/18 |
| Vitamin D deficiency | 5.6% | 1/18 |
| Abnormality of the immune system | 31.6% | 6/19 |
| Recurrent infections | 10.5% | 2/19 |
| Pneumonia | 5.3% | 1/19 |
| Recurrent pneumonia | 5.3% | 1/19 |
| Recurrent respiratory infections | 5.3% | 1/19 |
| Recurrent viral infections | 5.3% | 1/19 |
| Recurrent pharyngitis | 5.3% | 1/19 |