DNMT3A

Graph and Chart

Patient Overview : 83

General

Frequency of all clinical findings

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 global developmental delay 1.2% 1/81
Severe expressive language 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 base 2.4% 1/42
Wide nasal bridge 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 calcaneovalgus 2.5% 2/80
Talipes valgus 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 recurvatum 1.3% 1/80
Genu valgum 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 hypertrichosis 1.2% 1/83
Generalized hirsutism 1.2% 1/83
High anterior hairline 1.2% 1/83
Hypermelanotic macule 1.2% 1/83
Hyperkeratosis pilaris 1.2% 1/83
Hypertrichosis 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