ARID2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 60.7% | 17/28 |
| Female | 39.3% | 11/28 |
| Indifferent | 0% | 0/28 |
| Unknown | 0% | 0/28 |
| Gene specific questions | ||
| Feeding difficulties | 68.8% | 11/16 |
| Constipation | 6.3% | 1/16 |
| General | ||
| Birth Length abnormalities | 11.1% | 3/27 |
| < P3 : Birth length less than 3rd percentile | 11.1% | 3/27 |
| Birth Weight abnormalities | 17.9% | 5/28 |
| < P3 : Small for gestational age | 17.9% | 5/28 |
| Birth Head circumference abnormalities | 0% | 0/27 |
| Current Height abnormalities | 46.4% | 13/28 |
| < P3 : Short stature | 46.4% | 13/28 |
| Current Weight abnormalities | 28.6% | 8/28 |
| > P98 : Increased body weight | 3.6% | 1/28 |
| < P3 : Decreased body weight | 25.0% | 7/28 |
| Current Head circumference abnormalities | 10.7% | 3/28 |
| > P98 : Macrocephaly | 3.6% | 1/28 |
| < P3 : Microcephaly | 7.1% | 2/28 |
| Neurology | ||
| Neurological abnormalities | 65.0% | 13/20 |
| Generalized hypotonia | 45.0% | 9/20 |
| Poor fine motor coordination | 10.0% | 2/20 |
| Absence seizures | 5.0% | 1/20 |
| Gait imbalance | 5.0% | 1/20 |
| Generalized tonic-clonic seizures | 5.0% | 1/20 |
| Generalized neonatal hypotonia | 5.0% | 1/20 |
| Impaired pain sensation | 5.0% | 1/20 |
| Behavioral problems | 88.0% | 22/25 |
| Short attention span | 36.0% | 9/25 |
| Autistic behavior | 28.0% | 7/25 |
| Anxiety | 20.0% | 5/25 |
| Attention deficit hyperactivity disorder | 20.0% | 5/25 |
| Aggressive behavior | 12.0% | 3/25 |
| Hyperactivity | 12.0% | 3/25 |
| Impulsivity | 12.0% | 3/25 |
| Autism | 8.0% | 2/25 |
| Rigidity | 8.0% | 2/25 |
| Sleep disturbance | 8.0% | 2/25 |
| Abnormal fear/anxiety-related behavior | 4.0% | 1/25 |
| Agitation | 4.0% | 1/25 |
| Low frustration tolerance | 4.0% | 1/25 |
| Brain abnormality | 46.7% | 7/15 |
| Abnormality of the periventricular white matter | 13.3% | 2/15 |
| Ventriculomegaly | 13.3% | 2/15 |
| Abnormality of the corpus callosum | 6.7% | 1/15 |
| Arachnoid cyst | 6.7% | 1/15 |
| Cerebellar vermis hypoplasia | 6.7% | 1/15 |
| Cerebellar hypoplasia | 6.7% | 1/15 |
| Dandy-Walker malformation | 6.7% | 1/15 |
| Delayed myelination | 6.7% | 1/15 |
| Dysplastic corpus callosum | 6.7% | 1/15 |
| Enlarged cisterna magna | 6.7% | 1/15 |
| Hypoplasia of the corpus callosum | 6.7% | 1/15 |
| Increased intracranial pressure | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 77.3% | 17/22 |
| Low-set ears | 22.7% | 5/22 |
| Low-set, posteriorly rotated ears | 18.2% | 4/22 |
| Posteriorly rotated ears | 13.6% | 3/22 |
| Uplifted earlobe | 9.1% | 2/22 |
| Attached earlobe | 4.5% | 1/22 |
| Cupped ear | 4.5% | 1/22 |
| Narrow internal auditory canal | 4.5% | 1/22 |
| Protruding ear | 4.5% | 1/22 |
| Squared superior portion of helix | 4.5% | 1/22 |
| Abnormality of the eye | 73.7% | 14/19 |
| Downslanted palpebral fissures | 21.1% | 4/19 |
| Ptosis | 21.1% | 4/19 |
| Thick eyebrow | 15.8% | 3/19 |
| Aplasia/Hypoplasia of the eyebrow | 10.5% | 2/19 |
| Epicanthus | 10.5% | 2/19 |
| Hypertelorism | 10.5% | 2/19 |
| Long eyelashes | 10.5% | 2/19 |
| Abnormality of the eyelid | 5.3% | 1/19 |
| Abnormality of the eyebrow | 5.3% | 1/19 |
| Abnormal eye morphology | 5.3% | 1/19 |
| Abnormality of the frontal hairline | 5.3% | 1/19 |
| Long philtrum | 5.3% | 1/19 |
| Low anterior hairline | 5.3% | 1/19 |
| Periorbital fullness | 5.3% | 1/19 |
| Small palpebral fissure | 5.3% | 1/19 |
| Sparse eyebrow | 5.3% | 1/19 |
| Strabismus | 5.3% | 1/19 |
| Telecanthus | 5.3% | 1/19 |
| Thick hair | 5.3% | 1/19 |
| Abnormality of the nose | 75.0% | 15/20 |
| Short nose | 30.0% | 6/20 |
| Anteverted nares | 20.0% | 4/20 |
| Broad nasal tip | 20.0% | 4/20 |
| Depressed nasal bridge | 20.0% | 4/20 |
| Thick nasal alae | 20.0% | 4/20 |
| Wide nose | 20.0% | 4/20 |
| Abnormality of the nasal alae | 10.0% | 2/20 |
| Abnormality of the philtrum | 10.0% | 2/20 |
| Wide nasal bridge | 10.0% | 2/20 |
| Abnormality of the columella | 5.0% | 1/20 |
| Broad philtrum | 5.0% | 1/20 |
| Long philtrum | 5.0% | 1/20 |
| Low hanging columella | 5.0% | 1/20 |
| Narrow nasal bridge | 5.0% | 1/20 |
| Prominent nasal bridge | 5.0% | 1/20 |
| Prominent nose | 5.0% | 1/20 |
| Prominent nasal tip | 5.0% | 1/20 |
| Prominent nasolabial fold | 5.0% | 1/20 |
| Wide nasal base | 5.0% | 1/20 |
| Abnormality of the mouth | 65.2% | 15/23 |
| Thick lower lip vermilion | 26.1% | 6/23 |
| Thin upper lip vermilion | 21.7% | 5/23 |
| Wide mouth | 21.7% | 5/23 |
| Long philtrum | 13.0% | 3/23 |
| Thick upper lip vermilion | 13.0% | 3/23 |
| High palate | 8.7% | 2/23 |
| Retrognathia | 8.7% | 2/23 |
| Abnormality of the philtrum | 4.3% | 1/23 |
| Downturned corners of mouth | 4.3% | 1/23 |
| Exaggerated cupid's bow | 4.3% | 1/23 |
| Gingival overgrowth | 4.3% | 1/23 |
| High, narrow palate | 4.3% | 1/23 |
| Open mouth | 4.3% | 1/23 |
| Thin lower lip vermilion | 4.3% | 1/23 |
| Visual and hearing impairments | ||
| Abnormal hearing | 15.8% | 3/19 |
| Glue ear | 15.8% | 3/19 |
| Abnormal vision | 63.6% | 14/22 |
| Myopia | 22.7% | 5/22 |
| Strabismus | 22.7% | 5/22 |
| Hypermetropia | 18.2% | 4/22 |
| Abnormal iris pigmentation | 4.5% | 1/22 |
| Alternating esotropia | 4.5% | 1/22 |
| Astigmatism | 4.5% | 1/22 |
| Duane anomaly | 4.5% | 1/22 |
| Hyperopic astigmatism | 4.5% | 1/22 |
| Mild | 4.5% | 1/22 |
| Nystagmus | 4.5% | 1/22 |
| Oculomotor apraxia | 4.5% | 1/22 |
| Photophobia | 4.5% | 1/22 |
| Ptosis | 4.5% | 1/22 |
| Stellate iris | 4.5% | 1/22 |
| Heart | ||
| Abnormality of the heart | 21.1% | 4/19 |
| Abnormal coronary artery course | 5.3% | 1/19 |
| Abnormality of the cardiac septa | 5.3% | 1/19 |
| Increased nuchal translucency | 5.3% | 1/19 |
| Patent ductus arteriosus | 5.3% | 1/19 |
| Patent foramen ovale | 5.3% | 1/19 |
| Pulmonary | ||
| Abnormality of the lungs | 23.5% | 4/17 |
| Recurrent respiratory infections | 11.8% | 2/17 |
| Abnormality of the tracheobronchial system | 5.9% | 1/17 |
| Neonatal respiratory distress | 5.9% | 1/17 |
| Recurrent bronchitis | 5.9% | 1/17 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 76.2% | 16/21 |
| Constipation | 38.1% | 8/21 |
| Feeding difficulties in infancy | 23.8% | 5/21 |
| Feeding difficulties | 14.3% | 3/21 |
| Gastroesophageal reflux | 14.3% | 3/21 |
| Nasogastric tube feeding in infancy | 9.5% | 2/21 |
| Abnormality of the ileum | 4.8% | 1/21 |
| Hepatomegaly | 4.8% | 1/21 |
| Ileal atresia | 4.8% | 1/21 |
| Inguinal hernia | 4.8% | 1/21 |
| Obesity | 4.8% | 1/21 |
| Poor suck | 4.8% | 1/21 |
| Urogenital | ||
| Abnormality of the urogenital system | 22.2% | 4/18 |
| Abnormal renal morphology | 5.6% | 1/18 |
| Hydrocele testis | 5.6% | 1/18 |
| Hypospadias | 5.6% | 1/18 |
| Testicular torsion | 5.6% | 1/18 |
| Skeleton | ||
| Skeletal abnormalities | 81.5% | 22/27 |
| Short stature | 22.2% | 6/27 |
| Plagiocephaly | 14.8% | 4/27 |
| Clinodactyly of the 5th finger | 11.1% | 3/27 |
| Joint laxity | 11.1% | 3/27 |
| Pectus carinatum | 11.1% | 3/27 |
| Pectus excavatum | 11.1% | 3/27 |
| Wormian bones | 11.1% | 3/27 |
| Delayed eruption of teeth | 7.4% | 2/27 |
| Dental crowding | 7.4% | 2/27 |
| Hip dysplasia | 7.4% | 2/27 |
| Irregular dentition | 7.4% | 2/27 |
| Lumbar hyperlordosis | 7.4% | 2/27 |
| Muscle weakness | 7.4% | 2/27 |
| Pes planus | 7.4% | 2/27 |
| Short 5th finger | 7.4% | 2/27 |
| Short finger | 7.4% | 2/27 |
| Short distal phalanx of the 5th finger | 7.4% | 2/27 |
| Tapered finger | 7.4% | 2/27 |
| Abnormality of the incisor | 3.7% | 1/27 |
| Abnormality of the thorax | 3.7% | 1/27 |
| Abnormality of the foot | 3.7% | 1/27 |
| Arachnodactyly | 3.7% | 1/27 |
| Broad hallux | 3.7% | 1/27 |
| Clinodactyly | 3.7% | 1/27 |
| Clinodactyly of the 5th toe | 3.7% | 1/27 |
| Clubbing | 3.7% | 1/27 |
| Crowded maxillary incisors | 3.7% | 1/27 |
| Delayed eruption of permanent teeth | 3.7% | 1/27 |
| Delayed ossification of carpal bones | 3.7% | 1/27 |
| Delayed eruption of primary teeth | 3.7% | 1/27 |
| Developmental regression | 3.7% | 1/27 |
| Dysharmonic delayed bone age | 3.7% | 1/27 |
| Frontal bossing | 3.7% | 1/27 |
| Growth delay | 3.7% | 1/27 |
| Hypoplastic fifth toenail | 3.7% | 1/27 |
| Hypoplastic fifth fingernail | 3.7% | 1/27 |
| Inguinal hernia | 3.7% | 1/27 |
| Kyphosis | 3.7% | 1/27 |
| Kyphoscoliosis | 3.7% | 1/27 |
| Long fingers | 3.7% | 1/27 |
| Macrodontia of permanent maxillary central incisor | 3.7% | 1/27 |
| Marked delay in bone age | 3.7% | 1/27 |
| Pes cavus | 3.7% | 1/27 |
| Short toe | 3.7% | 1/27 |
| Short foot | 3.7% | 1/27 |
| Short humerus | 3.7% | 1/27 |
| Short middle phalanx of the 5th finger | 3.7% | 1/27 |
| Short 5th toe | 3.7% | 1/27 |
| Short femur | 3.7% | 1/27 |
| Small hand | 3.7% | 1/27 |
| Small, conical teeth | 3.7% | 1/27 |
| Talipes equinovarus | 3.7% | 1/27 |
| Thoracic kyphosis | 3.7% | 1/27 |
| Umbilical hernia | 3.7% | 1/27 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 87.5% | 21/24 |
| Hypoplastic toenails | 25.0% | 6/24 |
| Eczema | 16.7% | 4/24 |
| Hypoplastic fifth toenail | 16.7% | 4/24 |
| Small nail | 16.7% | 4/24 |
| Sparse scalp hair | 16.7% | 4/24 |
| Fine hair | 12.5% | 3/24 |
| High anterior hairline | 8.3% | 2/24 |
| Hyperpigmentation of the skin | 8.3% | 2/24 |
| Hypopigmented skin patches | 8.3% | 2/24 |
| Joint laxity | 8.3% | 2/24 |
| Abnormality of hair texture | 4.2% | 1/24 |
| Abnormality of skin pigmentation | 4.2% | 1/24 |
| Absent fifth toenail | 4.2% | 1/24 |
| Atopic dermatitis | 4.2% | 1/24 |
| Dry skin | 4.2% | 1/24 |
| Fragile skin | 4.2% | 1/24 |
| Hemangioma | 4.2% | 1/24 |
| Hyperhidrosis | 4.2% | 1/24 |
| Hypoplastic fingernail | 4.2% | 1/24 |
| Hypoplastic fifth fingernail | 4.2% | 1/24 |
| Low anterior hairline | 4.2% | 1/24 |
| Numerous nevi | 4.2% | 1/24 |
| Pes planus | 4.2% | 1/24 |
| Prominent fingertip pads | 4.2% | 1/24 |
| Seborrheic dermatitis | 4.2% | 1/24 |
| Single transverse palmar crease | 4.2% | 1/24 |
| Slow-growing hair | 4.2% | 1/24 |
| Slow-growing nails | 4.2% | 1/24 |
| Vitiligo | 4.2% | 1/24 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 6.7% | 1/15 |
| Growth hormone deficiency | 6.7% | 1/15 |
| Abnormality of the metabolic system | 11.1% | 2/18 |
| Abnormal lactate dehydrogenase activity | 5.6% | 1/18 |
| Elevated serum creatinine | 5.6% | 1/18 |
| Abnormality of the immune system | 25.0% | 4/16 |
| Recurrent infections in infancy and early childhood | 12.5% | 2/16 |
| Allergy | 6.3% | 1/16 |
| Allergic rhinitis | 6.3% | 1/16 |
| Recurrent respiratory infections | 6.3% | 1/16 |
| Recurrent otitis media | 6.3% | 1/16 |
| Transient hypogammaglobulinemia of infancy | 6.3% | 1/16 |
| Neoplasia | ||
| Neoplasia | 3.6% | 1/28 |
| Breast carcinoma | 3.6% | 1/28 |