CHD8
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 70.6% | 77/109 |
| Female | 29.4% | 32/109 |
| Indifferent | 0% | 0/109 |
| Unknown | 0% | 0/109 |
| General | ||
| Birth Length abnormalities | 0% | 0/164 |
| Birth Weight abnormalities | 7.2% | 12/167 |
| > P98 : Large for gestational age | 6.0% | 10/167 |
| < P3 : Small for gestational age | 1.2% | 2/167 |
| Birth Head circumference abnormalities | 9.1% | 15/164 |
| > P98 : Macrocephaly at birth | 9.1% | 15/164 |
| Current Height abnormalities | 47.0% | 78/166 |
| > P98 : Tall stature | 46.4% | 77/166 |
| < P3 : Short stature | 0.6% | 1/166 |
| Current Weight abnormalities | 28.9% | 48/166 |
| > P98 : Increased body weight | 28.3% | 47/166 |
| < P3 : Decreased body weight | 0.6% | 1/166 |
| Current Head circumference abnormalities | 49.4% | 88/178 |
| > P98 : Macrocephaly | 47.2% | 84/178 |
| < P3 : Microcephaly | 2.2% | 4/178 |
| Neurology | ||
| Neurological abnormalities | 56.6% | 47/83 |
| Generalized hypotonia | 22.9% | 19/83 |
| Seizures | 9.6% | 8/83 |
| Abnormality of coordination | 6.0% | 5/83 |
| Global developmental delay | 4.8% | 4/83 |
| Neurodevelopmental delay | 4.8% | 4/83 |
| Clumsiness | 3.6% | 3/83 |
| Muscular hypotonia | 3.6% | 3/83 |
| Absent speech | 2.4% | 2/83 |
| Ataxia | 2.4% | 2/83 |
| Decreased facial expression | 2.4% | 2/83 |
| Difficulty walking | 2.4% | 2/83 |
| Febrile seizures | 2.4% | 2/83 |
| Hernia | 2.4% | 2/83 |
| Hypomimic face | 2.4% | 2/83 |
| Increased muscle fatiguability | 2.4% | 2/83 |
| Motor delay | 2.4% | 2/83 |
| Neurodevelopmental abnormality | 2.4% | 2/83 |
| Sleep disturbance | 2.4% | 2/83 |
| Weak voice | 2.4% | 2/83 |
| Absence seizures | 1.2% | 1/83 |
| Cerebral palsy | 1.2% | 1/83 |
| Cognitive impairment | 1.2% | 1/83 |
| Complex febrile seizures | 1.2% | 1/83 |
| EEG abnormality | 1.2% | 1/83 |
| EEG with centrotemporal focal spike waves | 1.2% | 1/83 |
| Focal seizures, afebril | 1.2% | 1/83 |
| Focal seizures | 1.2% | 1/83 |
| Generalized tonic-clonic seizures | 1.2% | 1/83 |
| Headache | 1.2% | 1/83 |
| Impaired pain sensation | 1.2% | 1/83 |
| Myopathic facies | 1.2% | 1/83 |
| Neonatal hypotonia | 1.2% | 1/83 |
| Normal interictal EEG | 1.2% | 1/83 |
| Poor motor coordination | 1.2% | 1/83 |
| Poor fine motor coordination | 1.2% | 1/83 |
| Poor hand-eye coordination | 1.2% | 1/83 |
| Poor coordination | 1.2% | 1/83 |
| Postural instability | 1.2% | 1/83 |
| Simple febrile seizures | 1.2% | 1/83 |
| Sleep-wake cycle disturbance | 1.2% | 1/83 |
| Vertigo | 1.2% | 1/83 |
| Behavioral problems | 86.3% | 88/102 |
| Autism | 55.9% | 57/102 |
| Short attention span | 26.5% | 27/102 |
| Insomnia | 17.6% | 18/102 |
| Impaired social interactions | 15.7% | 16/102 |
| Poor eye contact | 13.7% | 14/102 |
| Repetitive compulsive behavior | 12.7% | 13/102 |
| Autistic behavior | 10.8% | 11/102 |
| Behavioral abnormality | 10.8% | 11/102 |
| Sleep disturbance | 10.8% | 11/102 |
| Abnormal social behavior | 8.8% | 9/102 |
| Stereotypic behavior | 8.8% | 9/102 |
| Aggressive behavior | 6.9% | 7/102 |
| Anxiety | 6.9% | 7/102 |
| Self-injurious behavior | 5.9% | 6/102 |
| Abnormal emotion/affect behavior | 4.9% | 5/102 |
| Attention deficit hyperactivity disorder | 4.9% | 5/102 |
| Irritability | 4.9% | 5/102 |
| Abnormal fear/anxiety-related behavior | 3.9% | 4/102 |
| Depression | 3.9% | 4/102 |
| Hyperactivity | 3.9% | 4/102 |
| Abnormal aggressive, impulsive or violent behavior | 2.9% | 3/102 |
| Global developmental delay | 2.9% | 3/102 |
| Impaired social reciprocity | 2.9% | 3/102 |
| Inappropriate crying | 2.9% | 3/102 |
| Lack of peer relationships | 2.9% | 3/102 |
| Delusions | 2.0% | 2/102 |
| Echolalia | 2.0% | 2/102 |
| Psychosis | 2.0% | 2/102 |
| Anorexia | 1.0% | 1/102 |
| Auditory hallucinations | 1.0% | 1/102 |
| Enuresis | 1.0% | 1/102 |
| Excessive daytime sleepiness | 1.0% | 1/102 |
| Hearing abnormality | 1.0% | 1/102 |
| Impaired use of nonverbal behaviors | 1.0% | 1/102 |
| Inflexible adherence to routines or rituals | 1.0% | 1/102 |
| Lack of spontaneous play | 1.0% | 1/102 |
| Memory impairment | 1.0% | 1/102 |
| Motor tics | 1.0% | 1/102 |
| Obsessive-compulsive behavior | 1.0% | 1/102 |
| Pica | 1.0% | 1/102 |
| Schizophrenia | 1.0% | 1/102 |
| Self-mutilation | 1.0% | 1/102 |
| Brain abnormality | 21.7% | 15/69 |
| EEG abnormality | 5.8% | 4/69 |
| Ventriculomegaly | 5.8% | 4/69 |
| Abnormality of the cerebral white matter | 4.3% | 3/69 |
| Abnormality of the septum pellucidum | 1.4% | 1/69 |
| Abnormality of the calvaria | 1.4% | 1/69 |
| Abnormal brain FDG positron emission tomography | 1.4% | 1/69 |
| Absent septum pellucidum | 1.4% | 1/69 |
| Cerebellar cyst | 1.4% | 1/69 |
| Cerebral cortical atrophy | 1.4% | 1/69 |
| Delayed CNS myelination | 1.4% | 1/69 |
| Hydrocephalus | 1.4% | 1/69 |
| Morphological abnormality of the central nervous system | 1.4% | 1/69 |
| Facial abnormalities | ||
| Abnormality of the ear | 31.3% | 20/64 |
| Macrotia | 12.5% | 8/64 |
| Large earlobe | 9.4% | 6/64 |
| Posteriorly rotated ears | 4.7% | 3/64 |
| Low-set ears | 3.1% | 2/64 |
| Attached earlobe | 1.6% | 1/64 |
| Cupped ear | 1.6% | 1/64 |
| Large fleshy ears | 1.6% | 1/64 |
| Otitis media | 1.6% | 1/64 |
| Pointed helix | 1.6% | 1/64 |
| Preauricular skin tag | 1.6% | 1/64 |
| Recurrent otitis media | 1.6% | 1/64 |
| Underfolded helix | 1.6% | 1/64 |
| Uplifted earlobe | 1.6% | 1/64 |
| Abnormality of the eye | 56.7% | 38/67 |
| Downslanted palpebral fissures | 25.4% | 17/67 |
| Hypertelorism | 25.4% | 17/67 |
| Prominent supraorbital ridges | 17.9% | 12/67 |
| Periorbital fullness | 4.5% | 3/67 |
| Strabismus | 4.5% | 3/67 |
| Congenital ptosis | 3.0% | 2/67 |
| Deeply set eye | 3.0% | 2/67 |
| Epicanthus | 3.0% | 2/67 |
| Ptosis | 3.0% | 2/67 |
| Abnormal conjugate eye movement | 1.5% | 1/67 |
| Cataract | 1.5% | 1/67 |
| Esotropia | 1.5% | 1/67 |
| Exotropia | 1.5% | 1/67 |
| Glaucoma | 1.5% | 1/67 |
| Iris atrophy | 1.5% | 1/67 |
| Long palpebral fissure | 1.5% | 1/67 |
| Long eyelashes | 1.5% | 1/67 |
| Medial flaring of the eyebrow | 1.5% | 1/67 |
| Proptosis | 1.5% | 1/67 |
| Telecanthus | 1.5% | 1/67 |
| Underdeveloped supraorbital ridges | 1.5% | 1/67 |
| Upslanted palpebral fissure | 1.5% | 1/67 |
| Abnormality of the nose | 31.7% | 20/63 |
| Wide nose | 11.1% | 7/63 |
| Abnormality of the external nose | 4.8% | 3/63 |
| Wide nasal bridge | 4.8% | 3/63 |
| Anteverted nares | 3.2% | 2/63 |
| Prominent nasal tip | 3.2% | 2/63 |
| Broad nasal tip | 1.6% | 1/63 |
| Convex nasal ridge | 1.6% | 1/63 |
| Depressed nasal bridge | 1.6% | 1/63 |
| Long philtrum | 1.6% | 1/63 |
| Pear-shaped nose | 1.6% | 1/63 |
| Short nose | 1.6% | 1/63 |
| Thick nasal alae | 1.6% | 1/63 |
| Abnormality of the mouth | 22.0% | 13/59 |
| High palate | 10.2% | 6/59 |
| Long philtrum | 5.1% | 3/59 |
| Thick lower lip vermilion | 3.4% | 2/59 |
| Thin upper lip vermilion | 3.4% | 2/59 |
| Abnormality of the teeth | 1.7% | 1/59 |
| Abnormality of dental color | 1.7% | 1/59 |
| Abnormality of the gingiva | 1.7% | 1/59 |
| Bifid uvula | 1.7% | 1/59 |
| Downturned corners of mouth | 1.7% | 1/59 |
| Open mouth | 1.7% | 1/59 |
| Open bite | 1.7% | 1/59 |
| Smooth philtrum | 1.7% | 1/59 |
| Thick vermilion border | 1.7% | 1/59 |
| Visual and hearing impairments | ||
| Abnormal hearing | 7.9% | 5/63 |
| Abnormality of the ear | 1.6% | 1/63 |
| Behavioral abnormality | 1.6% | 1/63 |
| Hearing impairment | 1.6% | 1/63 |
| Hypermetropia | 1.6% | 1/63 |
| Mild hearing impairment | 1.6% | 1/63 |
| Abnormal vision | 11.5% | 7/61 |
| Myopia | 9.8% | 6/61 |
| Abnormality of vision | 1.6% | 1/61 |
| Astigmatism | 1.6% | 1/61 |
| Heart | ||
| Abnormality of the heart | 10.5% | 6/57 |
| Patent foramen ovale | 3.5% | 2/57 |
| Cardiomegaly | 1.8% | 1/57 |
| Heart murmur | 1.8% | 1/57 |
| Hypertension | 1.8% | 1/57 |
| Left ventricular septal hypertrophy | 1.8% | 1/57 |
| Mitral regurgitation | 1.8% | 1/57 |
| Right ventricular dilatation | 1.8% | 1/57 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 36/72 |
| Constipation | 27.8% | 20/72 |
| Diarrhea | 9.7% | 7/72 |
| Gastroesophageal reflux | 6.9% | 5/72 |
| Abnormality of the gastrointestinal tract | 5.6% | 4/72 |
| Chronic diarrhea | 4.2% | 3/72 |
| Abdominal pain | 2.8% | 2/72 |
| Chronic constipation | 2.8% | 2/72 |
| Feeding difficulties | 2.8% | 2/72 |
| Abdominal distention | 1.4% | 1/72 |
| Abnormality of the duodenum | 1.4% | 1/72 |
| Anal fissure | 1.4% | 1/72 |
| Bowel incontinence | 1.4% | 1/72 |
| Dysphagia | 1.4% | 1/72 |
| Esophagitis | 1.4% | 1/72 |
| Functional abnormality of the gastrointestinal tract | 1.4% | 1/72 |
| Inflammation of the large intestine | 1.4% | 1/72 |
| Intermittent diarrhea | 1.4% | 1/72 |
| Pyloric stenosis | 1.4% | 1/72 |
| Vomiting | 1.4% | 1/72 |
| Urogenital | ||
| Abnormality of the urogenital system | 14.8% | 9/61 |
| Cryptorchidism | 4.9% | 3/61 |
| Hydrocele testis | 3.3% | 2/61 |
| Macroorchidism | 3.3% | 2/61 |
| Abnormality of the kidney | 1.6% | 1/61 |
| Uterine leiomyoma | 1.6% | 1/61 |
| Skeleton | ||
| Skeletal abnormalities | 52.9% | 36/68 |
| Pes planus | 17.6% | 12/68 |
| Abnormality of the teeth | 4.4% | 3/68 |
| Joint hypermobility | 4.4% | 3/68 |
| Scoliosis | 4.4% | 3/68 |
| Thoracolumbar scoliosis | 4.4% | 3/68 |
| Abnormality of the knees | 2.9% | 2/68 |
| Abnormal jaw morphology | 2.9% | 2/68 |
| Accelerated skeletal maturation | 2.9% | 2/68 |
| Arachnodactyly | 2.9% | 2/68 |
| Clinodactyly of the 5th finger | 2.9% | 2/68 |
| Large hands | 2.9% | 2/68 |
| Long foot | 2.9% | 2/68 |
| Pectus excavatum | 2.9% | 2/68 |
| Premature loss of primary teeth | 2.9% | 2/68 |
| Thoracic kyphosis | 2.9% | 2/68 |
| Abnormality of the calvaria | 1.5% | 1/68 |
| Abnormality of the sternum | 1.5% | 1/68 |
| Abnormality of limbs | 1.5% | 1/68 |
| Ankle swelling | 1.5% | 1/68 |
| Broad phalanges of the hand | 1.5% | 1/68 |
| Dysharmonic accelerated bone age | 1.5% | 1/68 |
| Flexion contracture of finger | 1.5% | 1/68 |
| Generalized joint laxity | 1.5% | 1/68 |
| Hand muscle weakness | 1.5% | 1/68 |
| Hemihypertrophy | 1.5% | 1/68 |
| Hemihypotrophy of lower limb | 1.5% | 1/68 |
| Hernia | 1.5% | 1/68 |
| Hip dysplasia | 1.5% | 1/68 |
| Increased arm span | 1.5% | 1/68 |
| Increased laxity of ankles | 1.5% | 1/68 |
| Joint laxity | 1.5% | 1/68 |
| Kyphosis | 1.5% | 1/68 |
| Long toe | 1.5% | 1/68 |
| Long fingers | 1.5% | 1/68 |
| Lumbar hyperlordosis | 1.5% | 1/68 |
| Marked delay in bone age | 1.5% | 1/68 |
| Posterior plagiocephaly | 1.5% | 1/68 |
| Rheumatoid arthritis | 1.5% | 1/68 |
| Sandal gap | 1.5% | 1/68 |
| Scapular winging | 1.5% | 1/68 |
| Short fourth metatarsal | 1.5% | 1/68 |
| Short foot | 1.5% | 1/68 |
| Short finger | 1.5% | 1/68 |
| Short 4th metacarpal | 1.5% | 1/68 |
| Short palm | 1.5% | 1/68 |
| Short third metatarsal | 1.5% | 1/68 |
| Stiff interphalangeal joints | 1.5% | 1/68 |
| Talipes valgus | 1.5% | 1/68 |
| Tall stature | 1.5% | 1/68 |
| Toe walking | 1.5% | 1/68 |
| Widely spaced teeth | 1.5% | 1/68 |
| 2-3 toe cutaneous syndactyly | 1.5% | 1/68 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 22.4% | 13/58 |
| Striae distensae | 6.9% | 4/58 |
| Abnormal hair whorl | 1.7% | 1/58 |
| Eczema | 1.7% | 1/58 |
| Epidermal nevus | 1.7% | 1/58 |
| Few cafe-au-lait spots | 1.7% | 1/58 |
| Fibroma | 1.7% | 1/58 |
| Hyperextensible skin | 1.7% | 1/58 |
| Hyperpigmentation of the skin | 1.7% | 1/58 |
| Hypopigmentation of the skin | 1.7% | 1/58 |
| Misalignment of teeth | 1.7% | 1/58 |
| Nevus flammeus of the forehead | 1.7% | 1/58 |
| Preauricular skin tag | 1.7% | 1/58 |
| Psoriasis | 1.7% | 1/58 |
| Seborrheic dermatitis | 1.7% | 1/58 |
| Urticaria | 1.7% | 1/58 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 10.9% | 6/55 |
| Hypothyroidism | 3.6% | 2/55 |
| Precocious puberty | 3.6% | 2/55 |
| Diabetes mellitus | 1.8% | 1/55 |
| Graves disease | 1.8% | 1/55 |
| Abnormality of the metabolic system | 10.7% | 6/56 |
| Neonatal hyperbilirubinemia | 8.9% | 5/56 |
| Type I diabetes mellitus | 1.8% | 1/56 |
| Abnormality of the immune system | 10.9% | 6/55 |
| Food intolerance | 3.6% | 2/55 |
| Gluten intolerance | 3.6% | 2/55 |
| Abnormality of the auditory canal | 1.8% | 1/55 |
| Episodic fever | 1.8% | 1/55 |
| Neutropenia | 1.8% | 1/55 |
| Precocious puberty | 1.8% | 1/55 |
| Recurrent infections | 1.8% | 1/55 |
| Recurrent otitis media | 1.8% | 1/55 |
| Unexplained fevers | 1.8% | 1/55 |
| Neoplasia | ||
| Neoplasia | 6.8% | 4/59 |
| Glabellar hemangioma | 5.1% | 3/59 |
| Fibrosarcoma | 1.7% | 1/59 |