CHD3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 46.3% | 57/123 |
| Female | 53.7% | 66/123 |
| Indifferent | 0% | 0/123 |
| Unknown | 0% | 0/123 |
| General | ||
| Birth Length abnormalities | 2.4% | 3/123 |
| > P98 : Birth length greater than 97th percentile | 1.6% | 2/123 |
| < P3 : Birth length less than 3rd percentile | 0.8% | 1/123 |
| Birth Weight abnormalities | 0.8% | 1/123 |
| > P98 : Large for gestational age | 0.8% | 1/123 |
| Birth Head circumference abnormalities | 4.1% | 5/123 |
| > P98 : Macrocephaly at birth | 3.3% | 4/123 |
| < P3 : Congenital microcephaly | 0.8% | 1/123 |
| Current Height abnormalities | 7.3% | 9/123 |
| < P3 : Short stature | 4.1% | 5/123 |
| > P98 : Tall stature | 3.3% | 4/123 |
| Current Weight abnormalities | 12.2% | 15/123 |
| < P3 : Decreased body weight | 7.3% | 9/123 |
| > P98 : Increased body weight | 4.9% | 6/123 |
| Current Head circumference abnormalities | 42.3% | 52/123 |
| > P98 : Macrocephaly | 39.0% | 48/123 |
| < P3 : Microcephaly | 3.3% | 4/123 |
| Neurology | ||
| Neurological abnormalities | 70.3% | 78/111 |
| Muscular hypotonia | 59.5% | 66/111 |
| Seizures | 7.2% | 8/111 |
| Broad-based gait | 4.5% | 5/111 |
| Gait disturbance | 3.6% | 4/111 |
| Dystonia | 2.7% | 3/111 |
| Postural instability | 2.7% | 3/111 |
| Unsteady gait | 2.7% | 3/111 |
| Abnormality of coordination | 1.8% | 2/111 |
| Abnormality of pain sensation | 1.8% | 2/111 |
| Chorea | 0.9% | 1/111 |
| Dysphagia | 0.9% | 1/111 |
| EEG abnormality | 0.9% | 1/111 |
| Epileptic spasms | 0.9% | 1/111 |
| Externally rotated/abducted legs | 0.9% | 1/111 |
| Febrile seizures | 0.9% | 1/111 |
| Generalized hypotonia | 0.9% | 1/111 |
| Hypsarrhythmia | 0.9% | 1/111 |
| Involuntary movements | 0.9% | 1/111 |
| Neurological speech impairment | 0.9% | 1/111 |
| Oculogyric crisis | 0.9% | 1/111 |
| Parkinsonism | 0.9% | 1/111 |
| Poor head control | 0.9% | 1/111 |
| Poor coordination | 0.9% | 1/111 |
| Progressive muscle weakness | 0.9% | 1/111 |
| Resting tremor | 0.9% | 1/111 |
| Spasticity | 0.9% | 1/111 |
| Spastic tetraplegia | 0.9% | 1/111 |
| Tethered cord | 0.9% | 1/111 |
| Tetraparesis | 0.9% | 1/111 |
| Tip-toe gait | 0.9% | 1/111 |
| Tremor | 0.9% | 1/111 |
| Behavioral problems | 45.6% | 52/114 |
| Autistic behavior | 28.1% | 32/114 |
| Autism | 4.4% | 5/114 |
| Short attention span | 4.4% | 5/114 |
| Stereotypic behavior | 4.4% | 5/114 |
| Behavioral abnormality | 3.5% | 4/114 |
| Hyperactivity | 2.6% | 3/114 |
| Recurrent hand flapping | 2.6% | 3/114 |
| Aggressive behavior | 1.8% | 2/114 |
| Attention deficit hyperactivity disorder | 1.8% | 2/114 |
| Bruxism | 1.8% | 2/114 |
| Echolalia | 1.8% | 2/114 |
| Inflexible adherence to routines or rituals | 1.8% | 2/114 |
| Restlessness | 1.8% | 2/114 |
| Sleep disturbance | 1.8% | 2/114 |
| Abnormal drinking behavior | 0.9% | 1/114 |
| Anxiety | 0.9% | 1/114 |
| Bipolar affective disorder | 0.9% | 1/114 |
| Broad forehead | 0.9% | 1/114 |
| Developmental regression | 0.9% | 1/114 |
| Drooling | 0.9% | 1/114 |
| Exaggerated startle response | 0.9% | 1/114 |
| Expressive language delay | 0.9% | 1/114 |
| Global developmental delay | 0.9% | 1/114 |
| Head-banging | 0.9% | 1/114 |
| Neurological speech impairment | 0.9% | 1/114 |
| Obsessive-compulsive behavior | 0.9% | 1/114 |
| Oppositional defiant disorder | 0.9% | 1/114 |
| Overfriendliness | 0.9% | 1/114 |
| Receptive language delay | 0.9% | 1/114 |
| Schizophrenia | 0.9% | 1/114 |
| Self-injurious behavior | 0.9% | 1/114 |
| Shyness | 0.9% | 1/114 |
| Speech apraxia | 0.9% | 1/114 |
| Stereotypical hand wringing | 0.9% | 1/114 |
| Tics | 0.9% | 1/114 |
| Brain abnormality | 58.1% | 54/93 |
| Arnold-Chiari malformation | 14.0% | 13/93 |
| Ventriculomegaly | 10.8% | 10/93 |
| Morphological abnormality of the central nervous system | 6.5% | 6/93 |
| Abnormality of the cerebral ventricles | 5.4% | 5/93 |
| Abnormality of the nervous system | 4.3% | 4/93 |
| Delayed myelination | 4.3% | 4/93 |
| Abnormality of the corpus callosum | 2.2% | 2/93 |
| Abnormality of the cerebral white matter | 2.2% | 2/93 |
| Abnormality of the cerebral cortex | 2.2% | 2/93 |
| Abnormality of the cerebrum | 2.2% | 2/93 |
| Perivascular spaces | 2.2% | 2/93 |
| Abnormality of the cerebrospinal fluid | 1.1% | 1/93 |
| Abnormality of the periventricular white matter | 1.1% | 1/93 |
| Cerebral hypomyelination | 1.1% | 1/93 |
| Cerebral atrophy | 1.1% | 1/93 |
| Cortical dysplasia | 1.1% | 1/93 |
| Delayed CNS myelination | 1.1% | 1/93 |
| Encephalomalacia | 1.1% | 1/93 |
| Limbic malformations | 1.1% | 1/93 |
| Periventricular cysts | 1.1% | 1/93 |
| Periventricular leukomalacia | 1.1% | 1/93 |
| Porencephaly | 1.1% | 1/93 |
| Short corpus callosum | 1.1% | 1/93 |
| Small posterior fossa | 1.1% | 1/93 |
| Widened subarachnoid space | 1.1% | 1/93 |
| Widened cerebellar subarachnoid space | 1.1% | 1/93 |
| Facial abnormalities | ||
| Abnormality of the ear | 22.7% | 25/110 |
| Low-set, posteriorly rotated ears | 6.4% | 7/110 |
| Low-set ears | 4.5% | 5/110 |
| Posteriorly rotated ears | 4.5% | 5/110 |
| Abnormality of the pinna | 1.8% | 2/110 |
| Microtia | 1.8% | 2/110 |
| Abnormality of the outer ear | 0.9% | 1/110 |
| Abnormal location of ears | 0.9% | 1/110 |
| Cupped ear | 0.9% | 1/110 |
| Large fleshy ears | 0.9% | 1/110 |
| Macrotia | 0.9% | 1/110 |
| Overfolded helix | 0.9% | 1/110 |
| Prominent ear helix | 0.9% | 1/110 |
| Abnormality of the eye | 81.3% | 87/107 |
| Hypertelorism | 57.0% | 61/107 |
| Deeply set eye | 30.8% | 33/107 |
| Telecanthus | 14.0% | 15/107 |
| Small palpebral fissure | 10.3% | 11/107 |
| Ptosis | 3.7% | 4/107 |
| Downslanted palpebral fissures | 2.8% | 3/107 |
| Epicanthus | 1.9% | 2/107 |
| Upslanted palpebral fissure | 1.9% | 2/107 |
| Blue sclerae | 0.9% | 1/107 |
| Prominent epicanthal folds | 0.9% | 1/107 |
| Proptosis | 0.9% | 1/107 |
| Shallow orbits | 0.9% | 1/107 |
| Short palpebral fissure | 0.9% | 1/107 |
| Abnormality of the nose | 41.4% | 46/111 |
| Wide nasal bridge | 34.2% | 38/111 |
| Prominent nose | 6.3% | 7/111 |
| Broad nasal tip | 5.4% | 6/111 |
| Bifid nose | 0.9% | 1/111 |
| Bulbous nose | 0.9% | 1/111 |
| Convex nasal ridge | 0.9% | 1/111 |
| Depressed nasal bridge | 0.9% | 1/111 |
| Prominent nasal tip | 0.9% | 1/111 |
| Short nasal bridge | 0.9% | 1/111 |
| Short nose | 0.9% | 1/111 |
| Wide nose | 0.9% | 1/111 |
| Abnormality of the mouth | 62.0% | 67/108 |
| Thin upper lip vermilion | 38.0% | 41/108 |
| High palate | 9.3% | 10/108 |
| Abnormality of the teeth | 5.6% | 6/108 |
| Narrow mouth | 2.8% | 3/108 |
| Cleft palate | 1.9% | 2/108 |
| Dental crowding | 1.9% | 2/108 |
| High, narrow palate | 1.9% | 2/108 |
| Retrognathia | 1.9% | 2/108 |
| Abnormality of dental morphology | 0.9% | 1/108 |
| Abnormality of the gingiva | 0.9% | 1/108 |
| Agenesis of maxillary lateral incisor | 0.9% | 1/108 |
| Agenesis of incisor | 0.9% | 1/108 |
| Bifid uvula | 0.9% | 1/108 |
| Conical incisor | 0.9% | 1/108 |
| Delayed eruption of permanent teeth | 0.9% | 1/108 |
| Diastema | 0.9% | 1/108 |
| Hypoplasia of dental enamel | 0.9% | 1/108 |
| Long philtrum | 0.9% | 1/108 |
| Macrodontia | 0.9% | 1/108 |
| Mandibular prognathia | 0.9% | 1/108 |
| Microdontia | 0.9% | 1/108 |
| Micrognathia | 0.9% | 1/108 |
| Misalignment of teeth | 0.9% | 1/108 |
| Narrow palate | 0.9% | 1/108 |
| Selective tooth agenesis | 0.9% | 1/108 |
| Taurodontia | 0.9% | 1/108 |
| Widely spaced teeth | 0.9% | 1/108 |
| Visual and hearing impairments | ||
| Abnormal hearing | 7.8% | 9/116 |
| Abnormality of the auditory canal | 2.6% | 3/116 |
| Hearing impairment | 2.6% | 3/116 |
| Conductive hearing impairment | 1.7% | 2/116 |
| Hyperacusis | 0.9% | 1/116 |
| Abnormal vision | 52.5% | 62/118 |
| Strabismus | 15.3% | 18/118 |
| Abnormality of vision | 13.6% | 16/118 |
| Hypermetropia | 11.0% | 13/118 |
| Cortical visual impairment | 5.9% | 7/118 |
| Astigmatism | 4.2% | 5/118 |
| Myopia | 3.4% | 4/118 |
| Abnormality of the eye | 1.7% | 2/118 |
| Abnormality of refraction | 1.7% | 2/118 |
| Abnormal stereopsis | 1.7% | 2/118 |
| Amblyopia | 1.7% | 2/118 |
| Exotropia | 1.7% | 2/118 |
| Hyperopic astigmatism | 1.7% | 2/118 |
| Abnormality of eye movement | 0.8% | 1/118 |
| Entropion | 0.8% | 1/118 |
| Nasolacrimal duct obstruction | 0.8% | 1/118 |
| Nystagmus | 0.8% | 1/118 |
| Unilateral strabismus | 0.8% | 1/118 |
| Heart | ||
| Abnormality of the heart | 8.5% | 10/117 |
| Atria septal defect | 3.4% | 4/117 |
| Patent foramen ovale | 1.7% | 2/117 |
| Patent ductus arteriosus | 1.7% | 2/117 |
| Abnormality of the right ventricle | 0.9% | 1/117 |
| Aortic dilatation | 0.9% | 1/117 |
| Perimembranous ventricular septal defect | 0.9% | 1/117 |
| Pulmonary hypertension | 0.9% | 1/117 |
| Ventricular septal defect | 0.9% | 1/117 |
| Pulmonary | ||
| Abnormality of the lungs | 1.2% | 1/82 |
| Obstructive sleep apnea | 1.2% | 1/82 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 7.6% | 9/118 |
| Gastroesophageal reflux | 3.4% | 4/118 |
| Constipation | 1.7% | 2/118 |
| Esophagitis | 0.8% | 1/118 |
| Feeding difficulties in infancy | 0.8% | 1/118 |
| Intestinal atresia | 0.8% | 1/118 |
| Volvulus | 0.8% | 1/118 |
| Urogenital | ||
| Abnormality of the urogenital system | 17.4% | 20/115 |
| Cryptorchidism | 5.2% | 6/115 |
| Abnormality of male external genitalia | 1.7% | 2/115 |
| Bilateral cryptorchidism | 1.7% | 2/115 |
| Ovarian cyst | 1.7% | 2/115 |
| Unilateral cryptorchidism | 1.7% | 2/115 |
| Abnormality of the bladder | 0.9% | 1/115 |
| Abnormality of the menstrual cycle | 0.9% | 1/115 |
| Anteriorly placed anus | 0.9% | 1/115 |
| Hydrocele testis | 0.9% | 1/115 |
| Hypospadias | 0.9% | 1/115 |
| Nephrolithiasis | 0.9% | 1/115 |
| Polycystic ovaries | 0.9% | 1/115 |
| Retractile testis | 0.9% | 1/115 |
| Unilateral renal hypoplasia | 0.9% | 1/115 |
| Vesicoureteral reflux | 0.9% | 1/115 |
| Webbed penis | 0.9% | 1/115 |
| Skeleton | ||
| Skeletal abnormalities | 52.2% | 59/113 |
| Joint laxity | 31.0% | 35/113 |
| Scoliosis | 6.2% | 7/113 |
| Joint hypermobility | 3.5% | 4/113 |
| Pes planus | 3.5% | 4/113 |
| Abnormality of the sternum | 1.8% | 2/113 |
| Cleft palate | 1.8% | 2/113 |
| Lumbar hyperlordosis | 1.8% | 2/113 |
| Tapered finger | 1.8% | 2/113 |
| Abnormality of the parietal bone | 0.9% | 1/113 |
| Abnormality of the ankles | 0.9% | 1/113 |
| Abnormality of the hallux | 0.9% | 1/113 |
| Abnormal joint morphology | 0.9% | 1/113 |
| Accelerated skeletal maturation | 0.9% | 1/113 |
| Adducted thumb | 0.9% | 1/113 |
| Arachnodactyly | 0.9% | 1/113 |
| Arthritis | 0.9% | 1/113 |
| Broad palm | 0.9% | 1/113 |
| Camptodactyly of finger | 0.9% | 1/113 |
| Clinodactyly of the 5th finger | 0.9% | 1/113 |
| Congenital contracture | 0.9% | 1/113 |
| Coxa vara | 0.9% | 1/113 |
| Cubitus valgus | 0.9% | 1/113 |
| Down-sloping shoulders | 0.9% | 1/113 |
| Generalized joint laxity | 0.9% | 1/113 |
| Hip dysplasia | 0.9% | 1/113 |
| Hyperextensibility of the knee | 0.9% | 1/113 |
| Hyperextensible thumb | 0.9% | 1/113 |
| Increased laxity of ankles | 0.9% | 1/113 |
| Kyphosis | 0.9% | 1/113 |
| Osteoporosis | 0.9% | 1/113 |
| Pectus carinatum | 0.9% | 1/113 |
| Pes cavus | 0.9% | 1/113 |
| Proportionate short stature | 0.9% | 1/113 |
| Sagittal craniosynostosis | 0.9% | 1/113 |
| Short finger | 0.9% | 1/113 |
| Shoulder subluxation | 0.9% | 1/113 |
| Subluxation of the small joints of the hand | 0.9% | 1/113 |
| Talipes cavus equinovarus | 0.9% | 1/113 |
| Thoracic kyphosis | 0.9% | 1/113 |
| Valgus foot deformity | 0.9% | 1/113 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 28.6% | 34/119 |
| Sparse eyebrow | 11.8% | 14/119 |
| Cafe-au-lait spot | 2.5% | 3/119 |
| Sacral dimple | 2.5% | 3/119 |
| Dry skin | 1.7% | 2/119 |
| Eczema | 1.7% | 2/119 |
| Hypermelanotic macule | 1.7% | 2/119 |
| Abnormal position of hair whorl | 0.8% | 1/119 |
| Abnormality of skin pigmentation | 0.8% | 1/119 |
| Atypical scarring of skin | 0.8% | 1/119 |
| Concave nail | 0.8% | 1/119 |
| Decreased subcutaneous fat | 0.8% | 1/119 |
| Deep longitudinal plantar crease | 0.8% | 1/119 |
| Few cafe-au-lait spots | 0.8% | 1/119 |
| High anterior hairline | 0.8% | 1/119 |
| Hirsutism | 0.8% | 1/119 |
| Hypertrichosis | 0.8% | 1/119 |
| Localized skin lesion | 0.8% | 1/119 |
| Nevus flammeus | 0.8% | 1/119 |
| Patchy hypopigmentation of hair | 0.8% | 1/119 |
| Redundant neck skin | 0.8% | 1/119 |
| Supernumerary nipple | 0.8% | 1/119 |
| Thin fingernail | 0.8% | 1/119 |
| Thin toenail | 0.8% | 1/119 |
| Toenail dysplasia | 0.8% | 1/119 |
| Vascular skin abnormality | 0.8% | 1/119 |
| Widow's peak | 0.8% | 1/119 |
| 2-3 toe cutaneous syndactyly | 0.8% | 1/119 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 3.4% | 4/118 |
| Diabetes mellitus | 0.8% | 1/118 |
| Elevated luteinizing hormone | 0.8% | 1/118 |
| Elevated follicle stimulating hormone | 0.8% | 1/118 |
| Hypergonadotropic hypogonadism | 0.8% | 1/118 |
| Increased serum insulin-like growth factor 1 {comment=\"HPO:probinson\"} | 0.8% | 1/118 |
| Precocious puberty | 0.8% | 1/118 |
| Thyroid hemiagenesis | 0.8% | 1/118 |
| Abnormality of the metabolic system | 1.7% | 2/119 |
| Abnormality of alkaline phosphatase activity | 0.8% | 1/119 |
| Hypercalcemia | 0.8% | 1/119 |
| Abnormality of the immune system | 3.4% | 4/119 |
| Recurrent respiratory infections | 1.7% | 2/119 |
| Interstitial pneumonitis | 0.8% | 1/119 |
| Pyelonephritis | 0.8% | 1/119 |
| Recurrent infections | 0.8% | 1/119 |
| Neoplasia | ||
| Neoplasia | 0.8% | 1/119 |
| Osteochondroma | 0.8% | 1/119 |