CHD5
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 56.3% | 9/16 |
| Female | 43.8% | 7/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length abnormalities | 0% | 0/16 |
| Birth Weight abnormalities | 12.5% | 2/16 |
| > P98 : Large for gestational age | 12.5% | 2/16 |
| Birth Head circumference abnormalities | 0% | 0/16 |
| Current Height abnormalities | 25.0% | 4/16 |
| > P98 : Tall stature | 18.8% | 3/16 |
| < P3 : Short stature | 6.3% | 1/16 |
| Current Weight abnormalities | 12.5% | 2/16 |
| > P98 : Increased body weight | 12.5% | 2/16 |
| Current Head circumference abnormalities | 6.3% | 1/16 |
| < P3 : Microcephaly | 6.3% | 1/16 |
| Neurology | ||
| Neurological abnormalities | 85.7% | 12/14 |
| Axial hypotonia | 28.6% | 4/14 |
| Infantile spasms | 21.4% | 3/14 |
| Ankle clonus | 14.3% | 2/14 |
| Seizure | 14.3% | 2/14 |
| Ataxia | 7.1% | 1/14 |
| Brisk reflexes | 7.1% | 1/14 |
| Chorea | 7.1% | 1/14 |
| Clumsiness | 7.1% | 1/14 |
| Dysmetria | 7.1% | 1/14 |
| Dystonia | 7.1% | 1/14 |
| Focal clonic seizure | 7.1% | 1/14 |
| Focal seizure with eyelid myoclonia | 7.1% | 1/14 |
| Gait disturbance | 7.1% | 1/14 |
| Generalized-onset seizure | 7.1% | 1/14 |
| Generalized hypotonia | 7.1% | 1/14 |
| Generalized clonic seizure | 7.1% | 1/14 |
| Generalized non-motor (absence) seizure | 7.1% | 1/14 |
| Hypotonia | 7.1% | 1/14 |
| obsolete Infantile axial hypotonia | 7.1% | 1/14 |
| Behavioral problems | 68.8% | 11/16 |
| Autism | 18.8% | 3/16 |
| Abnormal eating behavior | 12.5% | 2/16 |
| Aggressive behavior | 12.5% | 2/16 |
| Compulsive behaviors | 12.5% | 2/16 |
| Reduced eye contact | 12.5% | 2/16 |
| Self-mutilation | 12.5% | 2/16 |
| Abnormal social behavior | 6.3% | 1/16 |
| Abnormal emotional state | 6.3% | 1/16 |
| Anxiety | 6.3% | 1/16 |
| Attention deficit hyperactivity disorder | 6.3% | 1/16 |
| Atypical behavior | 6.3% | 1/16 |
| Autistic behavior | 6.3% | 1/16 |
| Hyperventilation | 6.3% | 1/16 |
| Hyperactivity | 6.3% | 1/16 |
| Inappropriate crying | 6.3% | 1/16 |
| Irritability | 6.3% | 1/16 |
| Low frustration tolerance | 6.3% | 1/16 |
| Skin-picking | 6.3% | 1/16 |
| Sleep disturbance | 6.3% | 1/16 |
| Brain abnormality | 33.3% | 4/12 |
| Abnormal cerebral white matter morphology | 16.7% | 2/12 |
| Abnormal periventricular white matter morphology | 8.3% | 1/12 |
| Abnormal lateral ventricle morphology | 8.3% | 1/12 |
| Cortical dysplasia | 8.3% | 1/12 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 4/16 |
| Microtia | 12.5% | 2/16 |
| Cupped ear | 6.3% | 1/16 |
| Large earlobe | 6.3% | 1/16 |
| Low-set ears | 6.3% | 1/16 |
| Posteriorly rotated ears | 6.3% | 1/16 |
| Abnormality of the eye | 50.0% | 8/16 |
| Upslanted palpebral fissure | 18.8% | 3/16 |
| Epicanthus | 12.5% | 2/16 |
| Abnormality of the vasculature of the eye | 6.3% | 1/16 |
| Deeply set eye | 6.3% | 1/16 |
| Downslanted palpebral fissures | 6.3% | 1/16 |
| Narrow palpebral fissure | 6.3% | 1/16 |
| Abnormality of the nose | 31.3% | 5/16 |
| Anteverted nares | 6.3% | 1/16 |
| Broad nasal tip | 6.3% | 1/16 |
| Low hanging columella | 6.3% | 1/16 |
| Low insertion of columella | 6.3% | 1/16 |
| Prominent nasal bridge | 6.3% | 1/16 |
| Wide nasal base | 6.3% | 1/16 |
| Wide nasal bridge | 6.3% | 1/16 |
| Abnormality of the mouth | 43.8% | 7/16 |
| Thin upper lip vermilion | 18.8% | 3/16 |
| Micrognathia | 12.5% | 2/16 |
| Diastema | 6.3% | 1/16 |
| Everted lower lip vermilion | 6.3% | 1/16 |
| High palate | 6.3% | 1/16 |
| Microdontia | 6.3% | 1/16 |
| Retrognathia | 6.3% | 1/16 |
| Thick lower lip vermilion | 6.3% | 1/16 |
| Visual and hearing impairments | ||
| Abnormal vision | 60.0% | 6/10 |
| Strabismus | 30.0% | 3/10 |
| Amblyopia | 10.0% | 1/10 |
| Cerebral visual impairment | 10.0% | 1/10 |
| Hypermetropia | 10.0% | 1/10 |
| Optic nerve hypoplasia | 10.0% | 1/10 |
| Photophobia | 10.0% | 1/10 |
| Skeleton | ||
| Skeletal abnormalities | 53.3% | 8/15 |
| Talipes valgus | 13.3% | 2/15 |
| Clinodactyly of the 5th finger | 6.7% | 1/15 |
| Contracture of the proximal interphalangeal joint of the 5th finger | 6.7% | 1/15 |
| Craniosynostosis | 6.7% | 1/15 |
| Hallux valgus | 6.7% | 1/15 |
| Hip dysplasia | 6.7% | 1/15 |
| Hyperlordosis | 6.7% | 1/15 |
| Kyphosis | 6.7% | 1/15 |
| Long hallux | 6.7% | 1/15 |
| Long fingers | 6.7% | 1/15 |
| Metatarsus adductus | 6.7% | 1/15 |
| Pes planus | 6.7% | 1/15 |
| Prominent fingertip pads | 6.7% | 1/15 |
| Sagittal craniosynostosis | 6.7% | 1/15 |
| Scoliosis | 6.7% | 1/15 |
| Short 4th toe | 6.7% | 1/15 |
| Short 4th finger | 6.7% | 1/15 |
| Tapered finger | 6.7% | 1/15 |
| Trigonocephaly | 6.7% | 1/15 |
| Widely spaced toes | 6.7% | 1/15 |
| 2-3 toe syndactyly | 6.7% | 1/15 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 33.3% | 5/15 |
| Facial hirsutism | 6.7% | 1/15 |
| Generalized hypertrichosis | 6.7% | 1/15 |
| Hyperkeratosis | 6.7% | 1/15 |
| Hypoplastic toenails | 6.7% | 1/15 |
| Localized hirsutism | 6.7% | 1/15 |
| Long eyelashes | 6.7% | 1/15 |
| Synophrys | 6.7% | 1/15 |
| Telangiectasia | 6.7% | 1/15 |
| Thick eyebrow | 6.7% | 1/15 |