DNMT3A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 59.0% | 49/83 |
| Female | 41.0% | 34/83 |
| Indifferent | 0% | 0/83 |
| Unknown | 0% | 0/83 |
| General | ||
| Birth Length abnormalities | 18.5% | 25/135 |
| > P98 : Birth length greater than 97th percentile | 18.5% | 25/135 |
| Birth Weight abnormalities | 22.2% | 30/135 |
| > P98 : Large for gestational age | 22.2% | 30/135 |
| Birth Head circumference abnormalities | 14.1% | 19/135 |
| > P98 : Macrocephaly at birth | 14.1% | 19/135 |
| Current Height abnormalities | 61.5% | 83/135 |
| > P98 : Tall stature | 61.5% | 83/135 |
| Current Weight abnormalities | 54.1% | 73/135 |
| > P98 : Increased body weight | 54.1% | 73/135 |
| Current Head circumference abnormalities | 60.7% | 82/135 |
| > P98 : Macrocephaly | 60.7% | 82/135 |
| Neurology | ||
| Neurological abnormalities | 65.4% | 53/81 |
| Muscular hypotonia | 49.4% | 40/81 |
| Febrile seizures | 22.2% | 18/81 |
| Seizures | 12.3% | 10/81 |
| Delayed speech and language development | 4.9% | 4/81 |
| Expressive language delay | 2.5% | 2/81 |
| Generalized hypotonia | 2.5% | 2/81 |
| Abducens palsy | 1.2% | 1/81 |
| Brisk reflexes | 1.2% | 1/81 |
| Central hypoventilation | 1.2% | 1/81 |
| Complex febrile seizures | 1.2% | 1/81 |
| Delayed gross motor development | 1.2% | 1/81 |
| Dysarthria | 1.2% | 1/81 |
| Dysdiadochokinesis | 1.2% | 1/81 |
| Dysmetria | 1.2% | 1/81 |
| Dysphagia | 1.2% | 1/81 |
| Gait ataxia | 1.2% | 1/81 |
| Gowers sign | 1.2% | 1/81 |
| Muscular hypotonia of the trunk | 1.2% | 1/81 |
| Nystagmus | 1.2% | 1/81 |
| Poor fine motor coordination | 1.2% | 1/81 |
| Poor head control | 1.2% | 1/81 |
| Receptive language delay | 1.2% | 1/81 |
| Severe expressive language delay | 1.2% | 1/81 |
| Severe global developmental delay | 1.2% | 1/81 |
| Unsteady gait | 1.2% | 1/81 |
| Vertigo | 1.2% | 1/81 |
| Weak voice | 1.2% | 1/81 |
| Behavioral problems | 57.0% | 45/79 |
| Autism | 25.3% | 20/79 |
| Anxiety | 7.6% | 6/79 |
| Attention deficit hyperactivity disorder | 6.3% | 5/79 |
| Aggressive behavior | 5.1% | 4/79 |
| Depression | 5.1% | 4/79 |
| Developmental regression | 5.1% | 4/79 |
| Psychosis | 5.1% | 4/79 |
| Obsessive-compulsive behavior | 3.8% | 3/79 |
| Schizophrenia | 3.8% | 3/79 |
| Short attention span | 3.8% | 3/79 |
| Behavioral abnormality | 2.5% | 2/79 |
| Bipolar affective disorder | 2.5% | 2/79 |
| Polyphagia | 2.5% | 2/79 |
| Abnormal aggressive, impulsive or violent behavior | 1.3% | 1/79 |
| Auditory hallucinations | 1.3% | 1/79 |
| Autistic behavior | 1.3% | 1/79 |
| Hallucinations | 1.3% | 1/79 |
| Hyperactivity | 1.3% | 1/79 |
| Paranoia | 1.3% | 1/79 |
| Psychotic episodes | 1.3% | 1/79 |
| Stereotypic behavior | 1.3% | 1/79 |
| Brain abnormality | 26.1% | 18/69 |
| Arnold-Chiari type I malformation | 5.8% | 4/69 |
| Ventriculomegaly | 5.8% | 4/69 |
| Arnold-Chiari malformation | 4.3% | 3/69 |
| Hydrocephalus | 2.9% | 2/69 |
| Abnormality of lateral ventricle | 1.4% | 1/69 |
| Arachnoid cyst | 1.4% | 1/69 |
| Cerebral atrophy | 1.4% | 1/69 |
| Dilation of lateral ventricles | 1.4% | 1/69 |
| Fetal choroid plexus cysts | 1.4% | 1/69 |
| Frontotemporal cerebral atrophy | 1.4% | 1/69 |
| Intracranial cystic lesion | 1.4% | 1/69 |
| Preterm intraventricular hemorrhage | 1.4% | 1/69 |
| Thickened calvaria | 1.4% | 1/69 |
| Facial abnormalities | ||
| Abnormality of the ear | 7.1% | 3/42 |
| Low-set ears | 4.8% | 2/42 |
| Large earlobe | 2.4% | 1/42 |
| Abnormality of the eye | 88.1% | 37/42 |
| Small palpebral fissure | 64.3% | 27/42 |
| Thick eyebrow | 64.3% | 27/42 |
| Horizontal eyebrow | 61.9% | 26/42 |
| Hypertelorism | 14.3% | 6/42 |
| Deeply set eye | 9.5% | 4/42 |
| Downslanted palpebral fissures | 9.5% | 4/42 |
| Epicanthus | 9.5% | 4/42 |
| Ptosis | 4.8% | 2/42 |
| Short palpebral fissure | 4.8% | 2/42 |
| Esotropia | 2.4% | 1/42 |
| Facial capillary hemangioma | 2.4% | 1/42 |
| Laterally extended eyebrow | 2.4% | 1/42 |
| Myopathic facies | 2.4% | 1/42 |
| Upslanted palpebral fissure | 2.4% | 1/42 |
| Abnormality of the nose | 28.6% | 12/42 |
| Anteverted nares | 9.5% | 4/42 |
| Depressed nasal bridge | 9.5% | 4/42 |
| Prominent nasal bridge | 4.8% | 2/42 |
| Thin anteverted nares | 4.8% | 2/42 |
| Short nasal bridge | 2.4% | 1/42 |
| Wide nasal bridge | 2.4% | 1/42 |
| Wide nasal base | 2.4% | 1/42 |
| Abnormality of the mouth | 51.2% | 22/43 |
| High palate | 20.9% | 9/43 |
| Deep philtrum | 11.6% | 5/43 |
| Dental crowding | 11.6% | 5/43 |
| Long philtrum | 7.0% | 3/43 |
| Thin upper lip vermilion | 7.0% | 3/43 |
| Gingival overgrowth | 4.7% | 2/43 |
| Agenesis of canine | 2.3% | 1/43 |
| Downturned corners of mouth | 2.3% | 1/43 |
| Hypodontia | 2.3% | 1/43 |
| Increased number of teeth | 2.3% | 1/43 |
| Macrodontia of permanent maxillary central incisor | 2.3% | 1/43 |
| Macroglossia | 2.3% | 1/43 |
| Mandibular prognathia | 2.3% | 1/43 |
| Micrognathia | 2.3% | 1/43 |
| Narrow mouth | 2.3% | 1/43 |
| Premature eruption of permanent teeth | 2.3% | 1/43 |
| Retrognathia | 2.3% | 1/43 |
| Tented upper lip vermilion | 2.3% | 1/43 |
| Visual and hearing impairments | ||
| Abnormal vision | 14.8% | 12/81 |
| Myopia | 8.6% | 7/81 |
| Strabismus | 3.7% | 3/81 |
| Amblyopia | 1.2% | 1/81 |
| Astigmatism | 1.2% | 1/81 |
| Esotropia | 1.2% | 1/81 |
| Photophobia | 1.2% | 1/81 |
| Heart | ||
| Abnormality of the heart | 22.2% | 18/81 |
| Mitral regurgitation | 6.2% | 5/81 |
| Atria septal defect | 4.9% | 4/81 |
| Abnormality of the aortic valve | 2.5% | 2/81 |
| Aortic root dilatation | 2.5% | 2/81 |
| Patent ductus arteriosus | 2.5% | 2/81 |
| Abnormality of the mitral valve | 1.2% | 1/81 |
| Cardiomyopathy | 1.2% | 1/81 |
| Orthostatic tachycardia | 1.2% | 1/81 |
| Pericarditis | 1.2% | 1/81 |
| Supraventricular tachycardia with an accessory connection mediated pathway | 1.2% | 1/81 |
| Tricuspid regurgitation | 1.2% | 1/81 |
| Ventricular septal defect | 1.2% | 1/81 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 6.4% | 5/78 |
| Constipation | 5.1% | 4/78 |
| Gastroesophageal reflux | 2.6% | 2/78 |
| Chronic constipation | 1.3% | 1/78 |
| Gastrointestinal dysmotility | 1.3% | 1/78 |
| Urogenital | ||
| Abnormality of the urogenital system | 22.0% | 18/82 |
| Cryptorchidism | 7.3% | 6/82 |
| Hydronephrosis | 3.7% | 3/82 |
| Polycystic ovaries | 3.7% | 3/82 |
| Recurrent urinary tract infections | 3.7% | 3/82 |
| Abnormality of the ovary | 1.2% | 1/82 |
| Hypospadias | 1.2% | 1/82 |
| Megacalicosis | 1.2% | 1/82 |
| Menorrhagia | 1.2% | 1/82 |
| Multiple renal cysts | 1.2% | 1/82 |
| Ovarian cyst | 1.2% | 1/82 |
| Testicular atrophy | 1.2% | 1/82 |
| Ureteral dysgenesis | 1.2% | 1/82 |
| Vesicoureteral reflux | 1.2% | 1/82 |
| Skeleton | ||
| Skeletal abnormalities | 78.8% | 63/80 |
| Joint hypermobility | 60.0% | 48/80 |
| Kyphoscoliosis | 25.0% | 20/80 |
| Pes planus | 10.0% | 8/80 |
| Long foot | 6.3% | 5/80 |
| Scoliosis | 5.0% | 4/80 |
| Large hands | 3.8% | 3/80 |
| Joint laxity | 2.5% | 2/80 |
| Talipes valgus | 2.5% | 2/80 |
| Talipes calcaneovalgus | 2.5% | 2/80 |
| Tapered finger | 2.5% | 2/80 |
| Accelerated skeletal maturation | 1.3% | 1/80 |
| Achilles tendon contracture | 1.3% | 1/80 |
| Bifid sternum | 1.3% | 1/80 |
| Broad hallux | 1.3% | 1/80 |
| Congenital diaphragmatic hernia | 1.3% | 1/80 |
| Cubitus valgus | 1.3% | 1/80 |
| Genu valgum | 1.3% | 1/80 |
| Genu recurvatum | 1.3% | 1/80 |
| Hallux valgus | 1.3% | 1/80 |
| Hemihypertrophy | 1.3% | 1/80 |
| Hip Subluxation | 1.3% | 1/80 |
| Knee dislocation | 1.3% | 1/80 |
| Lower limb asymmetry | 1.3% | 1/80 |
| Lumbar scoliosis | 1.3% | 1/80 |
| Metatarsus adductus | 1.3% | 1/80 |
| Osteochondritis Dissecans | 1.3% | 1/80 |
| Patellar subluxation | 1.3% | 1/80 |
| Pectus carinatum | 1.3% | 1/80 |
| Plagiocephaly | 1.3% | 1/80 |
| Sagittal craniosynostosis | 1.3% | 1/80 |
| Sandal gap | 1.3% | 1/80 |
| Sclerotic cranial sutures | 1.3% | 1/80 |
| Short toe | 1.3% | 1/80 |
| Shoulder dislocation | 1.3% | 1/80 |
| Slender finger | 1.3% | 1/80 |
| Talipes equinovarus | 1.3% | 1/80 |
| Turricephaly | 1.3% | 1/80 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 20.5% | 17/83 |
| Hirsutism | 3.6% | 3/83 |
| Skin rash | 3.6% | 3/83 |
| Synophrys | 3.6% | 3/83 |
| Low anterior hairline | 2.4% | 2/83 |
| Abnormality of the fingernails | 1.2% | 1/83 |
| Cutis laxa | 1.2% | 1/83 |
| Fine hair | 1.2% | 1/83 |
| Generalized hirsutism | 1.2% | 1/83 |
| Generalized hypertrichosis | 1.2% | 1/83 |
| High anterior hairline | 1.2% | 1/83 |
| Hyperkeratosis pilaris | 1.2% | 1/83 |
| Hypertrichosis | 1.2% | 1/83 |
| Hypermelanotic macule | 1.2% | 1/83 |
| Hypoplastic fifth toenail | 1.2% | 1/83 |
| Long eyelashes | 1.2% | 1/83 |
| Nail dysplasia | 1.2% | 1/83 |
| Preauricular skin tag | 1.2% | 1/83 |
| Sacral dimple | 1.2% | 1/83 |
| Soft skin | 1.2% | 1/83 |
| Sparse anterior scalp hair | 1.2% | 1/83 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 6.2% | 4/65 |
| Precocious puberty | 4.6% | 3/65 |
| Hyperthyroidism | 1.5% | 1/65 |
| Abnormality of the immune system | 1.4% | 1/73 |
| Acute myeloid leukemia | 1.4% | 1/73 |
| Neoplasia | ||
| Neoplasia | 11.4% | 9/79 |
| Lipoma | 3.8% | 3/79 |
| Benign neoplasm of the central nervous system | 1.3% | 1/79 |
| Cerebellar medulloblastoma | 1.3% | 1/79 |
| Enchondroma | 1.3% | 1/79 |
| Hemangioma | 1.3% | 1/79 |
| Neuroblastoma | 1.3% | 1/79 |
| Osteoma | 1.3% | 1/79 |
| Renal angiomyolipoma | 1.3% | 1/79 |