KAT6B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 45.7% | 37/81 |
| Female | 54.3% | 44/81 |
| Indifferent | 0% | 0/81 |
| Unknown | 0% | 0/81 |
| General | ||
| Birth Length abnormalities | 4.9% | 4/81 |
| > P98 : Birth length greater than 97th percentile | 2.5% | 2/81 |
| < P3 : Birth length less than 3rd percentile | 2.5% | 2/81 |
| Birth Weight abnormalities | 4.9% | 4/81 |
| < P3 : Small for gestational age | 4.9% | 4/81 |
| Birth Head circumference abnormalities | 1.2% | 1/81 |
| < P3 : Congenital microcephaly | 1.2% | 1/81 |
| Current Height abnormalities | 13.6% | 11/81 |
| < P3 : Short stature | 12.3% | 10/81 |
| > P98 : Tall stature | 1.2% | 1/81 |
| Current Weight abnormalities | 16.0% | 13/81 |
| < P3 : Decreased body weight | 14.8% | 12/81 |
| > P98 : Increased body weight | 1.2% | 1/81 |
| Current Head circumference abnormalities | 40.7% | 33/81 |
| < P3 : Microcephaly | 39.5% | 32/81 |
| > P98 : Macrocephaly | 1.2% | 1/81 |
| Neurology | ||
| Neurological abnormalities | 87.3% | 48/55 |
| Muscular hypotonia | 69.1% | 38/55 |
| Seizures | 12.7% | 7/55 |
| Dysphagia | 9.1% | 5/55 |
| Nystagmus | 5.5% | 3/55 |
| Febrile seizures | 3.6% | 2/55 |
| Hypertonia | 3.6% | 2/55 |
| Areflexia of lower limbs | 1.8% | 1/55 |
| Decreased sensory nerve conduction velocity | 1.8% | 1/55 |
| Decreased motor nerve conduction velocity | 1.8% | 1/55 |
| Dystonia | 1.8% | 1/55 |
| Facial palsy | 1.8% | 1/55 |
| Hyporeflexia | 1.8% | 1/55 |
| Infantile axial hypotonia | 1.8% | 1/55 |
| Polyneuropathy | 1.8% | 1/55 |
| Severe muscular hypotonia | 1.8% | 1/55 |
| Behavioral problems | 60.9% | 14/23 |
| Behavioral abnormality | 17.4% | 4/23 |
| Anxiety | 13.0% | 3/23 |
| Drooling | 8.7% | 2/23 |
| Aggressive behavior | 4.3% | 1/23 |
| Attention deficit hyperactivity disorder | 4.3% | 1/23 |
| Autistic behavior | 4.3% | 1/23 |
| Borderline | 4.3% | 1/23 |
| Depression | 4.3% | 1/23 |
| Polyphagia | 4.3% | 1/23 |
| Brain abnormality | 77.8% | 42/54 |
| Agenesis of corpus callosum | 25.9% | 14/54 |
| Aplasia/Hypoplasia of the corpus callosum | 22.2% | 12/54 |
| Hypoplasia of the corpus callosum | 7.4% | 4/54 |
| Ventriculomegaly | 7.4% | 4/54 |
| Abnormality of lateral ventricle | 5.6% | 3/54 |
| Asymmetric ventricles | 3.7% | 2/54 |
| Colpocephaly | 3.7% | 2/54 |
| Delayed myelination | 3.7% | 2/54 |
| Dilation of lateral ventricles | 3.7% | 2/54 |
| Partial agenesis of the corpus callosum | 3.7% | 2/54 |
| Periventricular gray matter heterotopia | 3.7% | 2/54 |
| Perivascular spaces | 3.7% | 2/54 |
| Absent septum pellucidum | 1.9% | 1/54 |
| Arachnoid cyst | 1.9% | 1/54 |
| Cerebral hypomyelination | 1.9% | 1/54 |
| Cerebral cortical atrophy | 1.9% | 1/54 |
| Cerebral palsy | 1.9% | 1/54 |
| Cortical gyral simplification | 1.9% | 1/54 |
| Gliosis | 1.9% | 1/54 |
| Heterotopia | 1.9% | 1/54 |
| Hydrocephalus | 1.9% | 1/54 |
| Hypoplasia of the brainstem | 1.9% | 1/54 |
| Leukoencephalopathy | 1.9% | 1/54 |
| Pachygyria | 1.9% | 1/54 |
| Short corpus callosum | 1.9% | 1/54 |
| Facial abnormalities | ||
| Abnormality of the ear | 40.8% | 31/76 |
| Low-set ears | 23.7% | 18/76 |
| Microtia | 11.8% | 9/76 |
| Low-set, posteriorly rotated ears | 5.3% | 4/76 |
| Cupped ear | 2.6% | 2/76 |
| Overfolded helix | 2.6% | 2/76 |
| Protruding ear | 2.6% | 2/76 |
| Small earlobe | 2.6% | 2/76 |
| Abnormality of the pinna | 1.3% | 1/76 |
| Periauricular skin pits | 1.3% | 1/76 |
| Thickened helices | 1.3% | 1/76 |
| Abnormality of the eye | 80.0% | 60/75 |
| Blepharophimosis | 52.0% | 39/75 |
| Ptosis | 33.3% | 25/75 |
| Nasolacrimal duct obstruction | 21.3% | 16/75 |
| Hypertelorism | 18.7% | 14/75 |
| Short palpebral fissure | 10.7% | 8/75 |
| Epicanthus | 9.3% | 7/75 |
| Downslanted palpebral fissures | 8.0% | 6/75 |
| Small palpebral fissure | 8.0% | 6/75 |
| Epicanthus inversus | 6.7% | 5/75 |
| Prominent epicanthal folds | 6.7% | 5/75 |
| Telecanthus | 6.7% | 5/75 |
| Sparse eyebrow | 5.3% | 4/75 |
| Bilateral ptosis | 2.7% | 2/75 |
| Infra-orbital crease | 2.7% | 2/75 |
| Synophrys | 2.7% | 2/75 |
| Upslanted palpebral fissure | 2.7% | 2/75 |
| Deeply set eye | 1.3% | 1/75 |
| Infra-orbital fold | 1.3% | 1/75 |
| Proptosis | 1.3% | 1/75 |
| Thick eyebrow | 1.3% | 1/75 |
| Unilateral ptosis | 1.3% | 1/75 |
| Abnormality of the nose | 61.3% | 46/75 |
| Bulbous nose | 29.3% | 22/75 |
| Wide nasal bridge | 18.7% | 14/75 |
| Depressed nasal bridge | 13.3% | 10/75 |
| Prominent nasal bridge | 6.7% | 5/75 |
| Broad nasal tip | 4.0% | 3/75 |
| Depressed nasal ridge | 4.0% | 3/75 |
| Anteverted nares | 2.7% | 2/75 |
| Short columella | 2.7% | 2/75 |
| Wide nose | 2.7% | 2/75 |
| Low hanging columella | 1.3% | 1/75 |
| Prominent nose | 1.3% | 1/75 |
| Short nose | 1.3% | 1/75 |
| Abnormality of the mouth | 74.7% | 56/75 |
| Micrognathia | 22.7% | 17/75 |
| Abnormality of the teeth | 16.0% | 12/75 |
| Cleft palate | 14.7% | 11/75 |
| High palate | 14.7% | 11/75 |
| Thin upper lip vermilion | 13.3% | 10/75 |
| Long philtrum | 9.3% | 7/75 |
| Narrow mouth | 9.3% | 7/75 |
| Microdontia | 8.0% | 6/75 |
| Bifid uvula | 5.3% | 4/75 |
| Pierre-Robin sequence | 4.0% | 3/75 |
| Deep philtrum | 2.7% | 2/75 |
| Mandibular prognathia | 2.7% | 2/75 |
| Open mouth | 2.7% | 2/75 |
| Retrognathia | 2.7% | 2/75 |
| Smooth philtrum | 2.7% | 2/75 |
| Widely spaced teeth | 2.7% | 2/75 |
| Abnormality of incisor morphology | 1.3% | 1/75 |
| Absent uvula | 1.3% | 1/75 |
| Agenesis of permanent maxillary lateral incisor | 1.3% | 1/75 |
| Broad uvula | 1.3% | 1/75 |
| Cleft soft palate | 1.3% | 1/75 |
| Dental malocclusion | 1.3% | 1/75 |
| Dental crowding | 1.3% | 1/75 |
| Diastema | 1.3% | 1/75 |
| Downturned corners of mouth | 1.3% | 1/75 |
| Everted lower lip vermilion | 1.3% | 1/75 |
| High, narrow palate | 1.3% | 1/75 |
| Hypodontia | 1.3% | 1/75 |
| Hypoplasia of teeth | 1.3% | 1/75 |
| Macroglossia | 1.3% | 1/75 |
| Microretrognathia | 1.3% | 1/75 |
| Narrow philtrum | 1.3% | 1/75 |
| Pointed chin | 1.3% | 1/75 |
| Protruding tongue | 1.3% | 1/75 |
| Short philtrum | 1.3% | 1/75 |
| Short chin | 1.3% | 1/75 |
| Thin vermilion border | 1.3% | 1/75 |
| Trismus | 1.3% | 1/75 |
| Wide mouth | 1.3% | 1/75 |
| Visual and hearing impairments | ||
| Abnormal hearing | 29.3% | 17/58 |
| Hearing impairment | 20.7% | 12/58 |
| Sensorineural hearing impairment | 6.9% | 4/58 |
| Low-frequency hearing loss | 1.7% | 1/58 |
| Abnormal vision | 56.1% | 23/41 |
| Strabismus | 12.2% | 5/41 |
| Cortical visual impairment | 9.8% | 4/41 |
| Hypermetropia | 9.8% | 4/41 |
| Myopia | 9.8% | 4/41 |
| Optic nerve hypoplasia | 9.8% | 4/41 |
| Optic atrophy | 7.3% | 3/41 |
| Astigmatism | 4.9% | 2/41 |
| Amblyopia | 2.4% | 1/41 |
| Esotropia | 2.4% | 1/41 |
| Hypoplasia of the retina | 2.4% | 1/41 |
| Impaired smooth pursuit | 2.4% | 1/41 |
| Photophobia | 2.4% | 1/41 |
| Retinopathy | 2.4% | 1/41 |
| Severe Myopia | 2.4% | 1/41 |
| Heart | ||
| Abnormality of the heart | 58.0% | 40/69 |
| Atria septal defect | 27.5% | 19/69 |
| Abnormal heart morphology | 11.6% | 8/69 |
| Patent ductus arteriosus | 11.6% | 8/69 |
| Ventricular septal defect | 10.1% | 7/69 |
| Secundum atrial septal defect | 4.3% | 3/69 |
| Mitral regurgitation | 2.9% | 2/69 |
| Muscular ventricular septal defect | 2.9% | 2/69 |
| Right ventricular hypertrophy | 2.9% | 2/69 |
| Abnormality of the aortic arch | 1.4% | 1/69 |
| Cardiomegaly | 1.4% | 1/69 |
| Left aortic arch with retroesophageal right subclavian artery | 1.4% | 1/69 |
| Patent foramen ovale | 1.4% | 1/69 |
| Peripheral pulmonary artery stenosis | 1.4% | 1/69 |
| Right aortic arch with retroesophageal left subclavian artery | 1.4% | 1/69 |
| Supraventricular tachycardia | 1.4% | 1/69 |
| Tricuspid regurgitation | 1.4% | 1/69 |
| Pulmonary | ||
| Abnormality of the lungs | 68.6% | 24/35 |
| Laryngomalacia | 20.0% | 7/35 |
| Respiratory distress | 20.0% | 7/35 |
| Obstructive sleep apnea | 8.6% | 3/35 |
| Abnormal respiratory system morphology | 5.7% | 2/35 |
| Central apnea | 5.7% | 2/35 |
| Respiratory difficulties | 5.7% | 2/35 |
| Asthma | 2.9% | 1/35 |
| Laryngotracheomalacia | 2.9% | 1/35 |
| Neonatal respiratory distress | 2.9% | 1/35 |
| Pulmonary edema | 2.9% | 1/35 |
| Pulmonary hypoplasia | 2.9% | 1/35 |
| Respiratory tract infection | 2.9% | 1/35 |
| Sleep apnea | 2.9% | 1/35 |
| Tachypnea | 2.9% | 1/35 |
| Tracheomalacia | 2.9% | 1/35 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 77.6% | 52/67 |
| Feeding difficulties | 58.2% | 39/67 |
| Gastroesophageal reflux | 13.4% | 9/67 |
| Anteriorly placed anus | 7.5% | 5/67 |
| Anal atresia | 4.5% | 3/67 |
| Malrotation of small bowel | 4.5% | 3/67 |
| Chronic constipation | 3.0% | 2/67 |
| Constipation | 3.0% | 2/67 |
| Ileus | 3.0% | 2/67 |
| Anal stenosis | 1.5% | 1/67 |
| Enterocolitis | 1.5% | 1/67 |
| Feeding difficulties in infancy | 1.5% | 1/67 |
| Gastroparesis | 1.5% | 1/67 |
| Hepatomegaly | 1.5% | 1/67 |
| Intestinal atresia | 1.5% | 1/67 |
| Pancreatic hypoplasia | 1.5% | 1/67 |
| Polysplenia | 1.5% | 1/67 |
| Projectile vomiting | 1.5% | 1/67 |
| Rectal prolapse | 1.5% | 1/67 |
| Total colonic aganglionosis | 1.5% | 1/67 |
| Urogenital | ||
| Abnormality of the urogenital system | 71.6% | 48/67 |
| Cryptorchidism | 20.9% | 14/67 |
| Hydronephrosis | 19.4% | 13/67 |
| Abnormality of the genital system | 9.0% | 6/67 |
| Clitoral hypertrophy | 9.0% | 6/67 |
| Hypospadias | 9.0% | 6/67 |
| Scrotal hypoplasia | 9.0% | 6/67 |
| Abnormality of the kidney | 7.5% | 5/67 |
| Abnormality of the labia | 6.0% | 4/67 |
| Bilateral cryptorchidism | 6.0% | 4/67 |
| Hypoplastic labia majora | 6.0% | 4/67 |
| Micropenis | 6.0% | 4/67 |
| Multicystic kidney dysplasia | 6.0% | 4/67 |
| Unilateral cryptorchidism | 4.5% | 3/67 |
| Abnormality of the scrotum | 3.0% | 2/67 |
| Hypoplasia of the bladder | 3.0% | 2/67 |
| Recurrent urinary tract infections | 3.0% | 2/67 |
| Renal hypoplasia | 3.0% | 2/67 |
| Retractile testis | 3.0% | 2/67 |
| Abnormal renal morphology | 1.5% | 1/67 |
| Aplasia/Hypoplasia of the testes | 1.5% | 1/67 |
| Aplasia of the testes | 1.5% | 1/67 |
| Bicornuate uterus | 1.5% | 1/67 |
| Bifid scrotum | 1.5% | 1/67 |
| Bilateral renal hypoplasia | 1.5% | 1/67 |
| Enlarged kidneys | 1.5% | 1/67 |
| Hydrocele testis | 1.5% | 1/67 |
| Hyperplastic labia majora | 1.5% | 1/67 |
| Hypoplastic labia minora | 1.5% | 1/67 |
| Megacalicosis | 1.5% | 1/67 |
| Multiple renal cysts | 1.5% | 1/67 |
| Nephrolithiasis | 1.5% | 1/67 |
| Neurogenic bladder | 1.5% | 1/67 |
| Oliguria | 1.5% | 1/67 |
| Renal insufficiency | 1.5% | 1/67 |
| Renal dysplasia | 1.5% | 1/67 |
| Shawl scrotum | 1.5% | 1/67 |
| Small scrotum | 1.5% | 1/67 |
| Unilateral renal agenesis | 1.5% | 1/67 |
| Ureteropelvic junction obstruction | 1.5% | 1/67 |
| Vesicoureteral reflux | 1.5% | 1/67 |
| Skeleton | ||
| Skeletal abnormalities | 82.3% | 65/79 |
| Abnormality of the thumb | 39.2% | 31/79 |
| Long toe | 27.8% | 22/79 |
| Knee flexion contracture | 19.0% | 15/79 |
| Flexion contracture | 16.5% | 13/79 |
| Talipes equinovarus | 16.5% | 13/79 |
| Abnormality of the patella | 12.7% | 10/79 |
| Aplasia/Hypoplasia of the patella | 10.1% | 8/79 |
| Bilateral talipes equinovarus | 10.1% | 8/79 |
| Hip contracture | 10.1% | 8/79 |
| Patellar aplasia | 7.6% | 6/79 |
| Abnormality of pelvic girdle bone morphology | 6.3% | 5/79 |
| Pectus excavatum | 6.3% | 5/79 |
| Joint laxity | 5.1% | 4/79 |
| Long fingers | 5.1% | 4/79 |
| Narrow chest | 5.1% | 4/79 |
| Clinodactyly of the 5th finger | 3.8% | 3/79 |
| Hip dislocation | 3.8% | 3/79 |
| Overlapping toe | 3.8% | 3/79 |
| Pes planus | 3.8% | 3/79 |
| Camptodactyly | 2.5% | 2/79 |
| Clinodactyly | 2.5% | 2/79 |
| Flexion contracture of finger | 2.5% | 2/79 |
| Genu valgum | 2.5% | 2/79 |
| Joint hypermobility | 2.5% | 2/79 |
| Knee dislocation | 2.5% | 2/79 |
| Long hallux | 2.5% | 2/79 |
| Scoliosis | 2.5% | 2/79 |
| Thoracolumbar scoliosis | 2.5% | 2/79 |
| Abnormal pelvis bone ossification | 1.3% | 1/79 |
| Abnormality of the lumbar spine | 1.3% | 1/79 |
| Abnormality of the acetabulum | 1.3% | 1/79 |
| Arachnodactyly | 1.3% | 1/79 |
| Bilateral coxa valga | 1.3% | 1/79 |
| Bilateral postaxial polydactyly | 1.3% | 1/79 |
| Broad toe | 1.3% | 1/79 |
| Broad palm | 1.3% | 1/79 |
| Broad thumb | 1.3% | 1/79 |
| Cervical vertebral fusion (C2/C3) | 1.3% | 1/79 |
| Cervical spinal canal stenosis | 1.3% | 1/79 |
| Delayed patellar ossification | 1.3% | 1/79 |
| Distal arthrogryposis | 1.3% | 1/79 |
| Distal lower limb amyotrophy | 1.3% | 1/79 |
| Elbow flexion contracture | 1.3% | 1/79 |
| Enlarged joints | 1.3% | 1/79 |
| Kyphosis | 1.3% | 1/79 |
| Metacarpophalangeal joint contracture | 1.3% | 1/79 |
| Metatarsus adductus | 1.3% | 1/79 |
| Osteopenia | 1.3% | 1/79 |
| Patellar hypoplasia | 1.3% | 1/79 |
| Preaxial polydactyly | 1.3% | 1/79 |
| Preaxial hand polydactyly | 1.3% | 1/79 |
| Proximal radio-ulnar synostosis | 1.3% | 1/79 |
| Short femur | 1.3% | 1/79 |
| Short 5th finger | 1.3% | 1/79 |
| Single transverse palmar crease | 1.3% | 1/79 |
| Skeletal muscle atrophy | 1.3% | 1/79 |
| Torticollis | 1.3% | 1/79 |
| Valgus foot deformity | 1.3% | 1/79 |
| 2-3 toe syndactyly | 1.3% | 1/79 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 15/30 |
| Wide intermamillary distance | 13.3% | 4/30 |
| Bilateral single transverse palmar creases | 6.7% | 2/30 |
| Hypoplastic toenails | 6.7% | 2/30 |
| Bifid nail | 3.3% | 1/30 |
| Bridged palmar crease | 3.3% | 1/30 |
| Cafe-au-lait spot | 3.3% | 1/30 |
| Cutis laxa | 3.3% | 1/30 |
| Cutis marmorata | 3.3% | 1/30 |
| Cyanosis | 3.3% | 1/30 |
| Edema | 3.3% | 1/30 |
| Few cafe-au-lait spots | 3.3% | 1/30 |
| Hypoplastic fingernail | 3.3% | 1/30 |
| Hypoplastic fifth toenail | 3.3% | 1/30 |
| Jaundice | 3.3% | 1/30 |
| Petechiae | 3.3% | 1/30 |
| Redundant neck skin | 3.3% | 1/30 |
| Seborrheic dermatitis | 3.3% | 1/30 |
| Single transverse palmar crease | 3.3% | 1/30 |
| Small nail | 3.3% | 1/30 |
| Thickened skin | 3.3% | 1/30 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 49.1% | 26/53 |
| Hypothyroidism | 17.0% | 9/53 |
| Abnormality of thyroid physiology | 15.1% | 8/53 |
| Thyroid-stimulating hormone excess | 11.3% | 6/53 |
| Growth hormone deficiency | 1.9% | 1/53 |
| Hashimoto thyroiditis | 1.9% | 1/53 |
| Increased serum insulin-like growth factor 1 {comment=\"HPO:probinson\"} | 1.9% | 1/53 |
| Primary hypothyroidism | 1.9% | 1/53 |
| Abnormality of the metabolic system | 22.2% | 4/18 |
| Anemia | 11.1% | 2/18 |
| Acute disseminated intravascular coagulation | 5.6% | 1/18 |
| Elevated urinary vanillylmandelic acid | 5.6% | 1/18 |
| Elevated urinary homovanillic acid | 5.6% | 1/18 |
| Metabolic acidosis | 5.6% | 1/18 |
| Abnormality of the immune system | 37.5% | 3/8 |
| Chronic otitis media | 12.5% | 1/8 |
| Esophagitis | 12.5% | 1/8 |
| Recurrent otitis media | 12.5% | 1/8 |
| Neoplasia | ||
| Neoplasia | 16.7% | 1/6 |
| Neuroblastoma | 16.7% | 1/6 |