CHD8
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 75.6% | 62/82 |
| Female | 24.4% | 20/82 |
| Neurology | ||
| Neurological abnormalities | 51.6% | 32/62 |
| Headache | 1.6% | 1/62 |
| Seizures | 11.3% | 7/62 |
| Generalized hypotonia | 22.6% | 14/62 |
| Postural instability | 1.6% | 1/62 |
| Vertigo | 1.6% | 1/62 |
| Febrile seizures | 3.2% | 2/62 |
| Impaired pain sensation | 1.6% | 1/62 |
| Cerebral palsy | 1.6% | 1/62 |
| EEG with centrotemporal focal spike waves | 1.6% | 1/62 |
| Poor motor coordination | 1.6% | 1/62 |
| Clumsiness | 4.8% | 3/62 |
| Normal interictal EEG | 1.6% | 1/62 |
| Muscular hypotonia | 4.8% | 3/62 |
| Poor coordination | 1.6% | 1/62 |
| Hernia | 3.2% | 2/62 |
| Generalized tonic-clonic seizures | 1.6% | 1/62 |
| Absence seizures | 1.6% | 1/62 |
| Abnormality of coordination | 8.1% | 5/62 |
| Sleep disturbance | 3.2% | 2/62 |
| Motor delay | 3.2% | 2/62 |
| Difficulty walking | 3.2% | 2/62 |
| Increased muscle fatiguability | 3.2% | 2/62 |
| Weak voice | 3.2% | 2/62 |
| Decreased facial expression | 3.2% | 2/62 |
| Hypomimic face | 3.2% | 2/62 |
| Sleep-wake cycle disturbance | 1.6% | 1/62 |
| Poor hand-eye coordination | 1.6% | 1/62 |
| Focal seizures | 1.6% | 1/62 |
| Myopathic facies | 1.6% | 1/62 |
| Behavioral problems | 86.3% | 69/80 |
| Autism | 61.3% | 49/80 |
| Poor eye contact | 17.5% | 14/80 |
| Lack of peer relationships | 3.8% | 3/80 |
| Impaired social reciprocity | 3.8% | 3/80 |
| Impaired use of nonverbal behaviors | 1.3% | 1/80 |
| Impaired social interactions | 20.0% | 16/80 |
| Abnormal emotion/affect behavior | 6.3% | 5/80 |
| Stereotypic behavior | 11.3% | 9/80 |
| Insomnia | 20.0% | 16/80 |
| Short attention span | 33.8% | 27/80 |
| Abnormal social behavior | 10.0% | 8/80 |
| Autistic behavior | 8.8% | 7/80 |
| Global developmental delay | 3.8% | 3/80 |
| Memory impairment | 1.3% | 1/80 |
| Behavioral abnormality | 7.5% | 6/80 |
| Inappropriate crying | 3.8% | 3/80 |
| Abnormal aggressive, impulsive or violent behavior | 3.8% | 3/80 |
| Delusions | 2.5% | 2/80 |
| Sleep disturbance | 11.3% | 9/80 |
| Inflexible adherence to routines or rituals | 1.3% | 1/80 |
| Anxiety | 7.5% | 6/80 |
| Echolalia | 2.5% | 2/80 |
| Motor tics | 1.3% | 1/80 |
| Attention deficit hyperactivity disorder | 5.0% | 4/80 |
| Aggressive behavior | 6.3% | 5/80 |
| Depression | 5.0% | 4/80 |
| Excessive daytime sleepiness | 1.3% | 1/80 |
| Repetitive compulsive behavior | 16.3% | 13/80 |
| Hyperactivity | 5.0% | 4/80 |
| Self-injurious behavior | 6.3% | 5/80 |
| Abnormal fear/anxiety-related behavior | 5.0% | 4/80 |
| Irritability | 6.3% | 5/80 |
| Hearing abnormality | 1.3% | 1/80 |
| Schizophrenia | 1.3% | 1/80 |
| Auditory hallucinations | 1.3% | 1/80 |
| Anorexia | 1.3% | 1/80 |
| Lack of spontaneous play | 1.3% | 1/80 |
| Psychosis | 1.3% | 1/80 |
| Obsessive-compulsive behavior | 1.3% | 1/80 |
| Brain abnormality | 21.3% | 13/61 |
| Ventriculomegaly | 6.6% | 4/61 |
| Cerebellar cyst | 1.6% | 1/61 |
| Delayed CNS myelination | 1.6% | 1/61 |
| EEG abnormality | 6.6% | 4/61 |
| Morphological abnormality of the central nervous system | 1.6% | 1/61 |
| Abnormality of the calvaria | 1.6% | 1/61 |
| Abnormality of the cerebral white matter | 4.9% | 3/61 |
| Abnormal brain FDG positron emission tomography | 1.6% | 1/61 |
| Facial abnormalities | ||
| Abnormality of the ear | 29.1% | 16/55 |
| Recurrent otitis media | 1.8% | 1/55 |
| Macrotia | 14.5% | 8/55 |
| Posteriorly rotated ears | 3.6% | 2/55 |
| Low-set ears | 1.8% | 1/55 |
| Cupped ear | 1.8% | 1/55 |
| Large fleshy ears | 1.8% | 1/55 |
| Large earlobe | 10.9% | 6/55 |
| Uplifted earlobe | 1.8% | 1/55 |
| Otitis media | 1.8% | 1/55 |
| Abnormality of the ear | 3.6% | 2/55 |
| Abnormality of the eye | 52.6% | 30/57 |
| Hypertelorism | 26.3% | 15/57 |
| Downslanted palpebral fissures | 21.1% | 12/57 |
| Prominent supraorbital ridges | 21.1% | 12/57 |
| Upslanted palpebral fissure | 1.8% | 1/57 |
| Long palpebral fissure | 1.8% | 1/57 |
| Underdeveloped supraorbital ridges | 1.8% | 1/57 |
| Proptosis | 1.8% | 1/57 |
| Ptosis | 3.5% | 2/57 |
| Strabismus | 5.3% | 3/57 |
| Long eyelashes | 1.8% | 1/57 |
| Exotropia | 1.8% | 1/57 |
| Medial flaring of the eyebrow | 1.8% | 1/57 |
| Periorbital fullness | 3.5% | 2/57 |
| Deeply set eye | 1.8% | 1/57 |
| Epicanthus | 1.8% | 1/57 |
| Iris atrophy | 1.8% | 1/57 |
| Congenital ptosis | 3.5% | 2/57 |
| Esotropia | 1.8% | 1/57 |
| Cataract | 1.8% | 1/57 |
| Abnormality of the nose | 24.1% | 13/54 |
| Wide nose | 11.1% | 6/54 |
| Pear-shaped nose | 1.9% | 1/54 |
| Wide nasal bridge | 5.6% | 3/54 |
| Broad nasal tip | 1.9% | 1/54 |
| Thick nasal alae | 1.9% | 1/54 |
| Abnormality of the nose | 1.9% | 1/54 |
| Long philtrum | 1.9% | 1/54 |
| Prominent nasal tip | 3.7% | 2/54 |
| Abnormality of the mouth | 14.0% | 7/50 |
| High palate | 8.0% | 4/50 |
| Abnormality of the gingiva | 2.0% | 1/50 |
| Abnormality of the teeth | 2.0% | 1/50 |
| Thick vermilion border | 2.0% | 1/50 |
| Smooth philtrum | 2.0% | 1/50 |
| Downturned corners of mouth | 2.0% | 1/50 |
| Long philtrum | 2.0% | 1/50 |
| Bifid uvula | 2.0% | 1/50 |
| Thin upper lip vermilion | 2.0% | 1/50 |
| Abnormality of dental color | 2.0% | 1/50 |
| Visual and hearing impairments | ||
| Abnormal hearing | 9.8% | 5/51 |
| Hearing impairment | 2.0% | 1/51 |
| Mild hearing impairment | 2.0% | 1/51 |
| Behavioral abnormality | 2.0% | 1/51 |
| Abnormality of the ear | 2.0% | 1/51 |
| Hypermetropia | 2.0% | 1/51 |
| Abnormal vision | 8.0% | 4/50 |
| Myopia | 6.0% | 3/50 |
| Abnormality of vision | 2.0% | 1/50 |
| Heart | ||
| Abnormality of the heart | 8.7% | 4/46 |
| Heart murmur | 2.2% | 1/46 |
| Mitral regurgitation | 2.2% | 1/46 |
| Patent foramen ovale | 4.3% | 2/46 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 30/60 |
| Constipation | 28.3% | 17/60 |
| Bowel incontinence | 1.7% | 1/60 |
| Diarrhea | 11.7% | 7/60 |
| Chronic constipation | 3.3% | 2/60 |
| Chronic diarrhea | 3.3% | 2/60 |
| Feeding difficulties | 1.7% | 1/60 |
| Abnormality of the gastrointestinal tract | 6.7% | 4/60 |
| Abdominal distention | 1.7% | 1/60 |
| Abdominal pain | 3.3% | 2/60 |
| Intermittent diarrhea | 1.7% | 1/60 |
| Inflammation of the large intestine | 1.7% | 1/60 |
| Gastroesophageal reflux | 6.7% | 4/60 |
| Vomiting | 1.7% | 1/60 |
| Abnormality of the duodenum | 1.7% | 1/60 |
| Esophagitis | 1.7% | 1/60 |
| Functional abnormality of the gastrointestinal tract | 1.7% | 1/60 |
| Anal fissure | 1.7% | 1/60 |
| Pyloric stenosis | 1.7% | 1/60 |
| Urogenital | ||
| Abnormality of the urogenital system | 14.3% | 7/49 |
| Abnormality of the kidney | 2.0% | 1/49 |
| Uterine leiomyoma | 2.0% | 1/49 |
| Macroorchidism | 4.1% | 2/49 |
| Hydrocele testis | 4.1% | 2/49 |
| Cryptorchidism | 2.0% | 1/49 |
| Skeleton | ||
| Skeletal abnormalities | 49.1% | 27/55 |
| Ankle swelling | 1.8% | 1/55 |
| Hand muscle weakness | 1.8% | 1/55 |
| Pes planus | 16.4% | 9/55 |
| Increased laxity of ankles | 1.8% | 1/55 |
| Thoracic kyphosis | 3.6% | 2/55 |
| Abnormality of limbs | 1.8% | 1/55 |
| Sandal gap | 1.8% | 1/55 |
| Posterior plagiocephaly | 1.8% | 1/55 |
| Scapular winging | 1.8% | 1/55 |
| Joint laxity | 1.8% | 1/55 |
| Large hands | 1.8% | 1/55 |
| Stiff interphalangeal joints | 1.8% | 1/55 |
| Long foot | 1.8% | 1/55 |
| Broad phalanges of the hand | 1.8% | 1/55 |
| Abnormality of the calvaria | 1.8% | 1/55 |
| Lumbar hyperlordosis | 1.8% | 1/55 |
| Short palm | 1.8% | 1/55 |
| Short finger | 1.8% | 1/55 |
| Short 4th metacarpal | 1.8% | 1/55 |
| Short foot | 1.8% | 1/55 |
| 2-3 toe cutaneous syndactyly | 1.8% | 1/55 |
| Short third metatarsal | 1.8% | 1/55 |
| Short fourth metatarsal | 1.8% | 1/55 |
| Hernia | 1.8% | 1/55 |
| Abnormal jaw morphology | 3.6% | 2/55 |
| Abnormality of the teeth | 5.5% | 3/55 |
| Thoracolumbar scoliosis | 5.5% | 3/55 |
| Marked delay in bone age | 1.8% | 1/55 |
| Dysharmonic accelerated bone age | 1.8% | 1/55 |
| Premature loss of primary teeth | 3.6% | 2/55 |
| Joint hypermobility | 1.8% | 1/55 |
| Tall stature | 1.8% | 1/55 |
| Abnormality of the knees | 3.6% | 2/55 |
| Toe walking | 1.8% | 1/55 |
| Widely spaced teeth | 1.8% | 1/55 |
| Kyphosis | 1.8% | 1/55 |
| Flexion contracture of finger | 1.8% | 1/55 |
| Clinodactyly of the 5th finger | 3.6% | 2/55 |
| Abnormality of the sternum | 1.8% | 1/55 |
| Accelerated skeletal maturation | 1.8% | 1/55 |
| Scoliosis | 3.6% | 2/55 |
| Generalized joint laxity | 1.8% | 1/55 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 10.9% | 5/46 |
| Urticaria | 2.2% | 1/46 |
| Striae distensae | 4.3% | 2/46 |
| Few cafe-au-lait spots | 2.2% | 1/46 |
| Epidermal nevus | 2.2% | 1/46 |
| Fibroma | 2.2% | 1/46 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 6.7% | 3/45 |
| Precocious puberty | 2.2% | 1/45 |
| Graves disease | 2.2% | 1/45 |
| Hypothyroidism | 2.2% | 1/45 |
| Abnormality of the metabolic system | 10.9% | 5/46 |
| Type I diabetes mellitus | 2.2% | 1/46 |
| Neonatal hyperbilirubinemia | 8.7% | 4/46 |
| Abnormality of the immune system | 8.9% | 4/45 |
| Precocious puberty | 2.2% | 1/45 |
| Recurrent otitis media | 2.2% | 1/45 |
| Recurrent infections | 2.2% | 1/45 |
| Abnormality of the auditory canal | 2.2% | 1/45 |
| Gluten intolerance | 4.4% | 2/45 |
| Food intolerance | 4.4% | 2/45 |
| Neoplasia | ||
| Neoplasia | 8.5% | 4/47 |
| Fibrosarcoma | 2.1% | 1/47 |
| Glabellar hemangioma | 6.4% | 3/47 |