KAT8
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 6/12 |
| Female | 50.0% | 6/12 |
| Indifferent | 0% | 0/12 |
| Unknown | 0% | 0/12 |
| General | ||
| Birth Length abnormalities | 0% | 0/12 |
| Birth Weight abnormalities | 8.3% | 1/12 |
| < P3 : Small for gestational age | 8.3% | 1/12 |
| Birth Head circumference abnormalities | 0% | 0/12 |
| Current Height abnormalities | 8.3% | 1/12 |
| < P3 : Short stature | 8.3% | 1/12 |
| Current Weight abnormalities | 8.3% | 1/12 |
| < P3 : Decreased body weight | 8.3% | 1/12 |
| Current Head circumference abnormalities | 33.3% | 4/12 |
| > P98 : Macrocephaly | 25.0% | 3/12 |
| < P3 : Microcephaly | 8.3% | 1/12 |
| Neurology | ||
| Neurological abnormalities | 75.0% | 9/12 |
| Seizures | 33.3% | 4/12 |
| Absence seizures | 25.0% | 3/12 |
| EEG abnormality | 16.7% | 2/12 |
| Abnormality of neuronal migration | 8.3% | 1/12 |
| Appendicular hypotonia | 8.3% | 1/12 |
| Bradykinesia | 8.3% | 1/12 |
| Broad-based gait | 8.3% | 1/12 |
| Febrile seizures | 8.3% | 1/12 |
| Generalized clonic seizures | 8.3% | 1/12 |
| Generalized hypotonia | 8.3% | 1/12 |
| Generalized tonic-clonic seizures | 8.3% | 1/12 |
| Hyperreflexia | 8.3% | 1/12 |
| Muscular hypotonia | 8.3% | 1/12 |
| Nasal speech | 8.3% | 1/12 |
| Postural instability | 8.3% | 1/12 |
| Speech apraxia | 8.3% | 1/12 |
| Speech articulation difficulties | 8.3% | 1/12 |
| Unsteady gait | 8.3% | 1/12 |
| Behavioral problems | 66.7% | 8/12 |
| Absent speech | 16.7% | 2/12 |
| Attention deficit hyperactivity disorder | 16.7% | 2/12 |
| Autism | 16.7% | 2/12 |
| Autistic behavior | 16.7% | 2/12 |
| Sleep disturbance | 16.7% | 2/12 |
| Aggressive behavior | 8.3% | 1/12 |
| Anxiety | 8.3% | 1/12 |
| Hair-pulling | 8.3% | 1/12 |
| Incomprehensible speech | 8.3% | 1/12 |
| Low frustration tolerance | 8.3% | 1/12 |
| Recurrent hand flapping | 8.3% | 1/12 |
| Short attention span | 8.3% | 1/12 |
| Stereotypic behavior | 8.3% | 1/12 |
| Brain abnormality | 60.0% | 6/10 |
| Abnormality of the cerebral white matter | 20.0% | 2/10 |
| Gray matter heterotopias | 20.0% | 2/10 |
| Ventriculomegaly | 20.0% | 2/10 |
| Abnormality of the cerebral ventricles | 10.0% | 1/10 |
| Abnormality of the sella turcica | 10.0% | 1/10 |
| Abnormality of the corpus callosum | 10.0% | 1/10 |
| Abnormality of the pituitary gland | 10.0% | 1/10 |
| Abnormality of the coccyx | 10.0% | 1/10 |
| Delayed myelination | 10.0% | 1/10 |
| Focal white matter lesions | 10.0% | 1/10 |
| Heterotopia | 10.0% | 1/10 |
| Increased intracranial pressure | 10.0% | 1/10 |
| Limbic malformations | 10.0% | 1/10 |
| Periventricular leukomalacia | 10.0% | 1/10 |
| Polymicrogyria | 10.0% | 1/10 |
| Facial abnormalities | ||
| Abnormality of the ear | 66.7% | 8/12 |
| Low-set ears | 33.3% | 4/12 |
| Cupped ear | 16.7% | 2/12 |
| Posteriorly rotated ears | 16.7% | 2/12 |
| Protruding ear | 16.7% | 2/12 |
| Macrotia | 8.3% | 1/12 |
| Microtia | 8.3% | 1/12 |
| Overfolded helix | 8.3% | 1/12 |
| Strabismus | 8.3% | 1/12 |
| Abnormality of the eye | 66.7% | 8/12 |
| Upslanted palpebral fissure | 25.0% | 3/12 |
| Epicanthus | 16.7% | 2/12 |
| Short palpebral fissure | 16.7% | 2/12 |
| Strabismus | 16.7% | 2/12 |
| Abnormality of retinal pigmentation | 8.3% | 1/12 |
| Almond-shaped palpebral fissure | 8.3% | 1/12 |
| Hypotelorism | 8.3% | 1/12 |
| Low-set, posteriorly rotated ears | 8.3% | 1/12 |
| Overfolded helix | 8.3% | 1/12 |
| Posteriorly rotated ears | 8.3% | 1/12 |
| Ptosis | 8.3% | 1/12 |
| Shallow orbits | 8.3% | 1/12 |
| Telecanthus | 8.3% | 1/12 |
| Abnormality of the nose | 50.0% | 6/12 |
| Depressed nasal bridge | 25.0% | 3/12 |
| Abnormality of the columella | 16.7% | 2/12 |
| Bulbous nose | 16.7% | 2/12 |
| Short nose | 16.7% | 2/12 |
| Abnormality of the nasal alae | 8.3% | 1/12 |
| Deviated nasal septum | 8.3% | 1/12 |
| Prominent nasal bridge | 8.3% | 1/12 |
| Prominent nose | 8.3% | 1/12 |
| Abnormality of the mouth | 58.3% | 7/12 |
| Carious teeth | 16.7% | 2/12 |
| High palate | 16.7% | 2/12 |
| Thick vermilion border | 16.7% | 2/12 |
| Thin upper lip vermilion | 16.7% | 2/12 |
| Thin vermilion border | 16.7% | 2/12 |
| Abnormality of the uvula | 8.3% | 1/12 |
| Micrognathia | 8.3% | 1/12 |
| Narrow mouth | 8.3% | 1/12 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 6/12 |
| Hypermetropia | 25.0% | 3/12 |
| Esotropia | 16.7% | 2/12 |
| Papilledema | 16.7% | 2/12 |
| Congenital strabismus | 8.3% | 1/12 |
| Nystagmus | 8.3% | 1/12 |
| Heart | ||
| Abnormality of the heart | 33.3% | 4/12 |
| Aortic root dilatation | 8.3% | 1/12 |
| Atria septal defect | 8.3% | 1/12 |
| Patent ductus arteriosus | 8.3% | 1/12 |
| Prolonged QT interval | 8.3% | 1/12 |
| Pulmonary hypertension | 8.3% | 1/12 |
| Ventricular septal defect | 8.3% | 1/12 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 8.3% | 1/12 |
| Constipation | 8.3% | 1/12 |
| Urogenital | ||
| Abnormality of the urogenital system | 9.1% | 1/11 |
| Dilatation of the renal pelvis | 9.1% | 1/11 |
| Skeleton | ||
| Skeletal abnormalities | 66.7% | 8/12 |
| Congenital hip dislocation | 16.7% | 2/12 |
| Overlapping toe | 16.7% | 2/12 |
| Abnormality of the thorax | 8.3% | 1/12 |
| Abnormality of toe | 8.3% | 1/12 |
| Arachnodactyly | 8.3% | 1/12 |
| Broad toe | 8.3% | 1/12 |
| Clinodactyly of the 5th finger | 8.3% | 1/12 |
| Congenital finger flexion contractures | 8.3% | 1/12 |
| Down-sloping shoulders | 8.3% | 1/12 |
| Elbow flexion contracture | 8.3% | 1/12 |
| Finger joint hypermobility | 8.3% | 1/12 |
| Hyperextensibility at wrists | 8.3% | 1/12 |
| Joint hypermobility | 8.3% | 1/12 |
| Long toe | 8.3% | 1/12 |
| Marked delay in bone age | 8.3% | 1/12 |
| Narrow chest | 8.3% | 1/12 |
| Pectus excavatum | 8.3% | 1/12 |
| Pes planus | 8.3% | 1/12 |
| Scoliosis | 8.3% | 1/12 |
| Short stature | 8.3% | 1/12 |
| Slender build | 8.3% | 1/12 |
| Talipes equinovarus | 8.3% | 1/12 |
| 3-4 finger syndactyly | 8.3% | 1/12 |
| 2-3 finger syndactyly | 8.3% | 1/12 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 6/12 |
| Abnormal palmar dermatoglyphics | 16.7% | 2/12 |
| Curly hair | 16.7% | 2/12 |
| Thick hair | 16.7% | 2/12 |
| Abnormality of the scalp hair | 8.3% | 1/12 |
| Eczema | 8.3% | 1/12 |
| Hemangioma | 8.3% | 1/12 |
| Highly arched eyebrow | 8.3% | 1/12 |
| Low anterior hairline | 8.3% | 1/12 |
| Sacral dimple | 8.3% | 1/12 |
| Soft skin | 8.3% | 1/12 |
| Sparse eyebrow | 8.3% | 1/12 |
| Wide intermamillary distance | 8.3% | 1/12 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 8.3% | 1/12 |
| Growth hormone deficiency | 8.3% | 1/12 |