KANSL1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.2% | 73/173 |
| Female | 57.8% | 100/173 |
| Indifferent | 0% | 0/173 |
| Unknown | 0% | 0/173 |
| General | ||
| Birth Length abnormalities | 5.6% | 8/144 |
| > P98 : Birth length greater than 97th percentile | 0.7% | 1/144 |
| < P3 : Birth length less than 3rd percentile | 4.9% | 7/144 |
| Birth Weight abnormalities | 13.3% | 22/165 |
| < P3 : Small for gestational age | 13.3% | 22/165 |
| Birth Head circumference abnormalities | 2.1% | 3/145 |
| > P98 : Macrocephaly at birth | 2.1% | 3/145 |
| Current Height abnormalities | 16.3% | 27/166 |
| < P3 : Short stature | 15.7% | 26/166 |
| > P98 : Tall stature | 0.6% | 1/166 |
| Current Weight abnormalities | 8.8% | 14/160 |
| < P3 : Decreased body weight | 8.1% | 13/160 |
| > P98 : Increased body weight | 0.6% | 1/160 |
| Current Head circumference abnormalities | 8.4% | 14/167 |
| > P98 : Macrocephaly | 6.0% | 10/167 |
| < P3 : Microcephaly | 2.4% | 4/167 |
| Neurology | ||
| Neurological abnormalities | 93.0% | 147/158 |
| Generalized hypotonia | 72.2% | 114/158 |
| Seizures | 35.4% | 56/158 |
| EEG abnormality | 22.2% | 35/158 |
| Generalized tonic-clonic seizures | 3.2% | 5/158 |
| Speech apraxia | 3.2% | 5/158 |
| Febrile seizures | 2.5% | 4/158 |
| Absence seizures | 1.9% | 3/158 |
| Dysarthria | 1.9% | 3/158 |
| Global developmental delay | 1.9% | 3/158 |
| Neonatal hypotonia | 1.9% | 3/158 |
| Status epilepticus | 1.9% | 3/158 |
| Delayed speech and language development | 1.3% | 2/158 |
| Focal seizures | 1.3% | 2/158 |
| Impaired pain sensation | 1.3% | 2/158 |
| Unsteady gait | 1.3% | 2/158 |
| Abnormality of the periventricular white matter | 0.6% | 1/158 |
| Ankle clonus | 0.6% | 1/158 |
| Apraxia | 0.6% | 1/158 |
| Ataxia | 0.6% | 1/158 |
| Atonic seizures | 0.6% | 1/158 |
| Broad-based gait | 0.6% | 1/158 |
| Communicating hydrocephalus | 0.6% | 1/158 |
| Dysmetria | 0.6% | 1/158 |
| EEG with focal sharp slow waves | 0.6% | 1/158 |
| EEG with generalized epileptiform discharges | 0.6% | 1/158 |
| Epileptic spasms | 0.6% | 1/158 |
| Epileptiform EEG discharges | 0.6% | 1/158 |
| Gait ataxia | 0.6% | 1/158 |
| Generalized clonic seizures | 0.6% | 1/158 |
| Generalized muscle weakness | 0.6% | 1/158 |
| Hemiclonic seizures | 0.6% | 1/158 |
| Hemiparesis | 0.6% | 1/158 |
| Hypertonia | 0.6% | 1/158 |
| Hypsarrhythmia | 0.6% | 1/158 |
| Impaired visuospatial constructive cognition | 0.6% | 1/158 |
| Inability to walk | 0.6% | 1/158 |
| Infantile muscular hypotonia | 0.6% | 1/158 |
| Infantile spasms | 0.6% | 1/158 |
| Limb apraxia | 0.6% | 1/158 |
| Lower limb hyperreflexia | 0.6% | 1/158 |
| Medulloblastoma | 0.6% | 1/158 |
| Moderate global developmental delay | 0.6% | 1/158 |
| Muscle weakness | 0.6% | 1/158 |
| Oromotor apraxia | 0.6% | 1/158 |
| Severe muscular hypotonia | 0.6% | 1/158 |
| Simple febrile seizures | 0.6% | 1/158 |
| Tetraplegia | 0.6% | 1/158 |
| Behavioral problems | 88.4% | 130/147 |
| Overfriendliness | 53.1% | 78/147 |
| Anxiety | 9.5% | 14/147 |
| Abnormal social behavior | 8.8% | 13/147 |
| Attention deficit hyperactivity disorder | 8.8% | 13/147 |
| Global developmental delay | 8.8% | 13/147 |
| Short attention span | 6.1% | 9/147 |
| Autistic behavior | 5.4% | 8/147 |
| Poor eye contact | 4.8% | 7/147 |
| Hyperactivity | 4.1% | 6/147 |
| Impaired social interactions | 2.7% | 4/147 |
| Stereotypic behavior | 2.7% | 4/147 |
| Impulsivity | 2.0% | 3/147 |
| Inflexible adherence to routines or rituals | 2.0% | 3/147 |
| Obsessive-compulsive behavior | 2.0% | 3/147 |
| Aggressive behavior | 1.4% | 2/147 |
| Behavioral abnormality | 1.4% | 2/147 |
| Oppositional defiant disorder | 1.4% | 2/147 |
| Perseveration | 1.4% | 2/147 |
| Shyness | 1.4% | 2/147 |
| Sleep disturbance | 1.4% | 2/147 |
| Agitation | 0.7% | 1/147 |
| Depression | 0.7% | 1/147 |
| Eye poking | 0.7% | 1/147 |
| Insomnia | 0.7% | 1/147 |
| Irritability | 0.7% | 1/147 |
| Phonophobia | 0.7% | 1/147 |
| Polydipsia | 0.7% | 1/147 |
| Psychosis | 0.7% | 1/147 |
| Seizures | 0.7% | 1/147 |
| Self-biting | 0.7% | 1/147 |
| Brain abnormality | 61.4% | 62/101 |
| Ventriculomegaly | 17.8% | 18/101 |
| Aplasia/Hypoplasia of the corpus callosum | 7.9% | 8/101 |
| Hydrocephalus | 5.9% | 6/101 |
| Hypoplasia of the corpus callosum | 5.9% | 6/101 |
| Agenesis of corpus callosum | 4.0% | 4/101 |
| Dilation of lateral ventricles | 4.0% | 4/101 |
| Delayed CNS myelination | 3.0% | 3/101 |
| Perivascular spaces | 3.0% | 3/101 |
| Abnormality of the cerebral ventricles | 2.0% | 2/101 |
| Arnold-Chiari type I malformation | 2.0% | 2/101 |
| Cerebral atrophy | 2.0% | 2/101 |
| Cerebral white matter atrophy | 2.0% | 2/101 |
| Choroid plexus cyst | 2.0% | 2/101 |
| Dysplastic corpus callosum | 2.0% | 2/101 |
| Abnormality of the posterior pituitary | 1.0% | 1/101 |
| Abnormality of lateral ventricle | 1.0% | 1/101 |
| Abnormality of brain morphology | 1.0% | 1/101 |
| Abnormality of the posterior cranial fossa | 1.0% | 1/101 |
| Abnormality of the septum pellucidum | 1.0% | 1/101 |
| Abnormality of neuronal migration | 1.0% | 1/101 |
| Abnormality of the periventricular white matter | 1.0% | 1/101 |
| Abnormality of the cerebral white matter | 1.0% | 1/101 |
| Abnormality of the corpus callosum | 1.0% | 1/101 |
| Abnormality of the pituitary gland | 1.0% | 1/101 |
| Anterior pituitary hypoplasia | 1.0% | 1/101 |
| Cerebellar hypoplasia | 1.0% | 1/101 |
| Cerebral hemorrhage | 1.0% | 1/101 |
| Cervical cord compression | 1.0% | 1/101 |
| Colpocephaly | 1.0% | 1/101 |
| Communicating hydrocephalus | 1.0% | 1/101 |
| Cranial nerve VI palsy | 1.0% | 1/101 |
| Dolichocephaly | 1.0% | 1/101 |
| Dural ectasia | 1.0% | 1/101 |
| Enlarged cisterna magna | 1.0% | 1/101 |
| Generalized cerebral atrophy/hypoplasia | 1.0% | 1/101 |
| Gliosis | 1.0% | 1/101 |
| Heterotopia | 1.0% | 1/101 |
| Hydromyelia | 1.0% | 1/101 |
| Intraventricular hemorrhage | 1.0% | 1/101 |
| Macrocephaly | 1.0% | 1/101 |
| Medulloblastoma | 1.0% | 1/101 |
| Partial agenesis of the corpus callosum | 1.0% | 1/101 |
| Periventricular white matter hypodensities | 1.0% | 1/101 |
| Pineal cyst | 1.0% | 1/101 |
| Spina bifida | 1.0% | 1/101 |
| Syringomyelia | 1.0% | 1/101 |
| Tethered cord | 1.0% | 1/101 |
| Widened subarachnoid space | 1.0% | 1/101 |
| Facial abnormalities | ||
| Abnormality of the ear | 63.5% | 73/115 |
| Protruding ear | 31.3% | 36/115 |
| Macrotia | 27.0% | 31/115 |
| Low-set ears | 20.9% | 24/115 |
| Low-set, posteriorly rotated ears | 5.2% | 6/115 |
| Microtia | 4.3% | 5/115 |
| Cupped ear | 3.5% | 4/115 |
| Preauricular pit | 1.7% | 2/115 |
| Small earlobe | 1.7% | 2/115 |
| Underdeveloped crus of the helix | 1.7% | 2/115 |
| Abnormality of the pinna | 0.9% | 1/115 |
| Abnormality of the helix | 0.9% | 1/115 |
| Abnormality of earlobe | 0.9% | 1/115 |
| Anteverted ears | 0.9% | 1/115 |
| Darwin tubercle of helix | 0.9% | 1/115 |
| Hypoplasia of the ear cartilage | 0.9% | 1/115 |
| Large earlobe | 0.9% | 1/115 |
| Overfolded helix | 0.9% | 1/115 |
| Overfolding of the superior helices | 0.9% | 1/115 |
| Posteriorly rotated ears | 0.9% | 1/115 |
| Prominent ear helix | 0.9% | 1/115 |
| Round ear | 0.9% | 1/115 |
| Stenosis of the external auditory canal | 0.9% | 1/115 |
| Thickened ears | 0.9% | 1/115 |
| Thickened helices | 0.9% | 1/115 |
| Underdeveloped superior crus of antihelix | 0.9% | 1/115 |
| Abnormality of the eye | 90.2% | 111/123 |
| Upslanted palpebral fissure | 49.6% | 61/123 |
| Epicanthus | 44.7% | 55/123 |
| Blepharophimosis | 26.8% | 33/123 |
| Ptosis | 25.2% | 31/123 |
| Hypertelorism | 13.8% | 17/123 |
| Iris hypopigmentation | 13.0% | 16/123 |
| Sparse eyebrow | 4.9% | 6/123 |
| Deeply set eye | 4.1% | 5/123 |
| Strabismus | 4.1% | 5/123 |
| Astigmatism | 2.4% | 3/123 |
| Hypermetropia | 1.6% | 2/123 |
| Short palpebral fissure | 1.6% | 2/123 |
| Telecanthus | 1.6% | 2/123 |
| Abnormality of the lens | 0.8% | 1/123 |
| Almond-shaped palpebral fissure | 0.8% | 1/123 |
| Downslanted palpebral fissures | 0.8% | 1/123 |
| Epicanthus inversus | 0.8% | 1/123 |
| Esotropia | 0.8% | 1/123 |
| Exotropia | 0.8% | 1/123 |
| Facial hemangioma | 0.8% | 1/123 |
| Infra-orbital crease | 0.8% | 1/123 |
| Lacrimal duct stenosis | 0.8% | 1/123 |
| Nystagmus | 0.8% | 1/123 |
| Periorbital fullness | 0.8% | 1/123 |
| Severe Myopia | 0.8% | 1/123 |
| Small palpebral fissure | 0.8% | 1/123 |
| Thick eyebrow | 0.8% | 1/123 |
| Abnormality of the nose | 90.6% | 106/117 |
| Bulbous nose | 69.2% | 81/117 |
| Pear-shaped nose | 65.0% | 76/117 |
| Underdeveloped nasal alae | 5.1% | 6/117 |
| Low hanging columella | 4.3% | 5/117 |
| Prominent nasal bridge | 4.3% | 5/117 |
| Depressed nasal bridge | 3.4% | 4/117 |
| Wide nasal base | 3.4% | 4/117 |
| Anteverted nares | 2.6% | 3/117 |
| Prominent nasal tip | 2.6% | 3/117 |
| Thick nasal alae | 2.6% | 3/117 |
| Broad columella | 1.7% | 2/117 |
| Broad nasal tip | 1.7% | 2/117 |
| Cleft ala nasi | 1.7% | 2/117 |
| Prominent nose | 1.7% | 2/117 |
| Wide nasal bridge | 1.7% | 2/117 |
| Abnormality of the external nose | 0.9% | 1/117 |
| Abnormality of the columella | 0.9% | 1/117 |
| Long nose | 0.9% | 1/117 |
| Narrow nose | 0.9% | 1/117 |
| Short nose | 0.9% | 1/117 |
| Wide nose | 0.9% | 1/117 |
| Abnormality of the mouth | 89.0% | 138/155 |
| Everted lower lip vermilion | 25.2% | 39/155 |
| Drooling | 20.0% | 31/155 |
| Chewing difficulties | 12.9% | 20/155 |
| High, narrow palate | 11.0% | 17/155 |
| Long philtrum | 10.3% | 16/155 |
| High palate | 9.7% | 15/155 |
| Open mouth | 9.7% | 15/155 |
| Broad chin | 8.4% | 13/155 |
| Macroglossia | 7.7% | 12/155 |
| Deep philtrum | 7.1% | 11/155 |
| Protruding tongue | 5.8% | 9/155 |
| Reduced number of teeth | 5.8% | 9/155 |
| Thin upper lip vermilion | 4.5% | 7/155 |
| Cleft palate | 3.9% | 6/155 |
| Microdontia | 3.9% | 6/155 |
| Short philtrum | 3.9% | 6/155 |
| Widely spaced teeth | 3.9% | 6/155 |
| Tented upper lip vermilion | 3.2% | 5/155 |
| Wide mouth | 3.2% | 5/155 |
| Thick vermilion border | 2.6% | 4/155 |
| Thick lower lip vermilion | 2.6% | 4/155 |
| Ankyloglossia | 1.9% | 3/155 |
| Conical tooth | 1.9% | 3/155 |
| Mandibular prognathia | 1.9% | 3/155 |
| Oral cleft | 1.9% | 3/155 |
| Bilateral cleft lip and palate | 1.3% | 2/155 |
| Broad philtrum | 1.3% | 2/155 |
| Carious teeth | 1.3% | 2/155 |
| Dental malocclusion | 1.3% | 2/155 |
| Downturned corners of mouth | 1.3% | 2/155 |
| Gingival overgrowth | 1.3% | 2/155 |
| Hypoplasia of dental enamel | 1.3% | 2/155 |
| Micrognathia | 1.3% | 2/155 |
| Retrognathia | 1.3% | 2/155 |
| Smooth philtrum | 1.3% | 2/155 |
| Abnormality of the gingiva | 0.6% | 1/155 |
| Abnormality of the tongue | 0.6% | 1/155 |
| Abnormality of oral frenula | 0.6% | 1/155 |
| Abnormality of the lip | 0.6% | 1/155 |
| Abnormal number of incisors | 0.6% | 1/155 |
| Abnormality of the palate | 0.6% | 1/155 |
| Agenesis of permanent teeth | 0.6% | 1/155 |
| Agenesis of maxillary incisor | 0.6% | 1/155 |
| Agenesis of premolar | 0.6% | 1/155 |
| Anterior open-bite malocclusion | 0.6% | 1/155 |
| Bilateral cleft lip | 0.6% | 1/155 |
| Cleft upper lip | 0.6% | 1/155 |
| Conical incisor | 0.6% | 1/155 |
| Conical maxillary incisor | 0.6% | 1/155 |
| Diastema | 0.6% | 1/155 |
| Everted upper lip vermilion | 0.6% | 1/155 |
| Exaggerated median tongue furrow | 0.6% | 1/155 |
| Hypodontia | 0.6% | 1/155 |
| Overbite | 0.6% | 1/155 |
| Thick upper lip vermilion | 0.6% | 1/155 |
| Thin vermilion border | 0.6% | 1/155 |
| Unilateral cleft lip | 0.6% | 1/155 |
| Widely-spaced maxillary central incisors | 0.6% | 1/155 |
| Visual and hearing impairments | ||
| Abnormal hearing | 20.0% | 24/120 |
| Hearing impairment | 9.2% | 11/120 |
| Conductive hearing impairment | 1.7% | 2/120 |
| Mild hearing impairment | 0.8% | 1/120 |
| Mild conductive hearing impairment | 0.8% | 1/120 |
| Moderate sensorineural hearing impairment | 0.8% | 1/120 |
| Unilateral conductive hearing impairment | 0.8% | 1/120 |
| Abnormal vision | 54.4% | 81/149 |
| Hypermetropia | 20.8% | 31/149 |
| Strabismus | 18.1% | 27/149 |
| Visual impairment | 9.4% | 14/149 |
| Esotropia | 2.0% | 3/149 |
| Myopia | 2.0% | 3/149 |
| Cortical visual impairment | 1.3% | 2/149 |
| Exotropia | 1.3% | 2/149 |
| Nystagmus | 1.3% | 2/149 |
| Abnormality of macular pigmentation | 0.7% | 1/149 |
| Abnormal amplitude of dark-adapted dim flash electroretinogram | 0.7% | 1/149 |
| Abnormal amplitude of dark-adapted bright flash electroretinogram | 0.7% | 1/149 |
| Abnormality of the optic disc | 0.7% | 1/149 |
| Alternating esotropia | 0.7% | 1/149 |
| Amblyopia | 0.7% | 1/149 |
| Attenuation of retinal blood vessels | 0.7% | 1/149 |
| Bone spicule pigmentation of the retina | 0.7% | 1/149 |
| Cataract | 0.7% | 1/149 |
| Chorioretinal coloboma | 0.7% | 1/149 |
| Congenital cataract | 0.7% | 1/149 |
| Macular scarring | 0.7% | 1/149 |
| Macular dystrophy | 0.7% | 1/149 |
| Optic atrophy | 0.7% | 1/149 |
| Optic disc pallor | 0.7% | 1/149 |
| Vitreous floaters | 0.7% | 1/149 |
| Heart | ||
| Abnormality of the heart | 37.0% | 50/135 |
| Atria septal defect | 11.1% | 15/135 |
| Ventricular septal defect | 6.7% | 9/135 |
| Abnormality of the atrial septum | 3.0% | 4/135 |
| Patent foramen ovale | 3.0% | 4/135 |
| Abnormality of the ventricular septum | 2.2% | 3/135 |
| Aortic dilatation | 2.2% | 3/135 |
| Bicuspid aortic valve | 2.2% | 3/135 |
| Mitral regurgitation | 2.2% | 3/135 |
| Secundum atrial septal defect | 2.2% | 3/135 |
| Tricuspid regurgitation | 2.2% | 3/135 |
| Cardiomyopathy | 1.5% | 2/135 |
| Heart murmur | 1.5% | 2/135 |
| Muscular ventricular septal defect | 1.5% | 2/135 |
| Patent ductus arteriosus | 1.5% | 2/135 |
| Abnormality of the systemic arterial tree | 0.7% | 1/135 |
| Abnormality of the pulmonary veins | 0.7% | 1/135 |
| Dysplastic aortic valve | 0.7% | 1/135 |
| Dysplastic pulmonary valve | 0.7% | 1/135 |
| Hypertension | 0.7% | 1/135 |
| Mitral valve prolapse | 0.7% | 1/135 |
| Prolonged QT interval | 0.7% | 1/135 |
| Right ventricular dilatation | 0.7% | 1/135 |
| Right atrial enlargement | 0.7% | 1/135 |
| Tachypnea | 0.7% | 1/135 |
| Ventricular aneurysm | 0.7% | 1/135 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 70.1% | 89/127 |
| Feeding difficulties | 52.0% | 66/127 |
| Gastroesophageal reflux | 9.4% | 12/127 |
| Tracheomalacia | 7.9% | 10/127 |
| Poor suck | 6.3% | 8/127 |
| Constipation | 3.9% | 5/127 |
| Inguinal hernia | 3.9% | 5/127 |
| Umbilical hernia | 2.4% | 3/127 |
| Chronic constipation | 1.6% | 2/127 |
| Dysphagia | 1.6% | 2/127 |
| Anal fistula | 0.8% | 1/127 |
| Chewing difficulties | 0.8% | 1/127 |
| Drooling | 0.8% | 1/127 |
| Elevated hepatic transaminases | 0.8% | 1/127 |
| Episodic vomiting | 0.8% | 1/127 |
| Feeding difficulties in infancy | 0.8% | 1/127 |
| Intestinal malrotation | 0.8% | 1/127 |
| Laryngomalacia | 0.8% | 1/127 |
| Pyloric stenosis | 0.8% | 1/127 |
| Urogenital | ||
| Abnormality of the urogenital system | 49.6% | 65/131 |
| Cryptorchidism | 12.2% | 16/131 |
| Hydronephrosis | 9.2% | 12/131 |
| Vesicoureteral reflux | 6.9% | 9/131 |
| Bilateral cryptorchidism | 4.6% | 6/131 |
| Fetal pyelectasis | 3.1% | 4/131 |
| Renal duplication | 3.1% | 4/131 |
| Micropenis | 2.3% | 3/131 |
| Dilatation of the renal pelvis | 1.5% | 2/131 |
| Scrotal hypoplasia | 1.5% | 2/131 |
| Ureteropelvic junction obstruction | 1.5% | 2/131 |
| Abnormality of the bladder | 0.8% | 1/131 |
| Enuresis diurna | 0.8% | 1/131 |
| Enuresis nocturna | 0.8% | 1/131 |
| Hypospadias | 0.8% | 1/131 |
| Macroorchidism | 0.8% | 1/131 |
| Multicystic kidney dysplasia | 0.8% | 1/131 |
| Phimosis | 0.8% | 1/131 |
| Polyuria | 0.8% | 1/131 |
| Pyelonephritis | 0.8% | 1/131 |
| Retractile testis | 0.8% | 1/131 |
| Scrotal hypospadias | 0.8% | 1/131 |
| Shawl scrotum | 0.8% | 1/131 |
| Unilateral cryptorchidism | 0.8% | 1/131 |
| Ureterocele | 0.8% | 1/131 |
| Urinary incontinence | 0.8% | 1/131 |
| Skeleton | ||
| Skeletal abnormalities | 81.6% | 111/136 |
| Joint laxity | 33.8% | 46/136 |
| Pes planus | 16.9% | 23/136 |
| Arachnodactyly | 16.2% | 22/136 |
| Scoliosis | 11.0% | 15/136 |
| Slender build | 10.3% | 14/136 |
| Narrow palm | 8.1% | 11/136 |
| Abnormality of the curvature of the vertebral column | 7.4% | 10/136 |
| Hip dysplasia | 7.4% | 10/136 |
| Pectus excavatum | 7.4% | 10/136 |
| Abnormality of the musculature of the hand | 5.1% | 7/136 |
| Positional foot deformity | 5.1% | 7/136 |
| Abnormality of the hip joint | 3.7% | 5/136 |
| Hip dislocation | 3.7% | 5/136 |
| Lower limb asymmetry | 3.7% | 5/136 |
| Pes cavus | 3.7% | 5/136 |
| Shield chest | 3.7% | 5/136 |
| Hallux valgus | 2.9% | 4/136 |
| Joint hypermobility | 2.9% | 4/136 |
| Kyphosis | 2.9% | 4/136 |
| Broad thumb | 2.2% | 3/136 |
| Dolichocephaly | 2.2% | 3/136 |
| Genu valgum | 2.2% | 3/136 |
| Short neck | 2.2% | 3/136 |
| Talipes equinovarus | 2.2% | 3/136 |
| Abnormality of the sternum | 1.5% | 2/136 |
| Abnormality of the lower limb | 1.5% | 2/136 |
| Bilateral talipes equinovarus | 1.5% | 2/136 |
| Broad hallux | 1.5% | 2/136 |
| Calcaneovalgus deformity | 1.5% | 2/136 |
| Cervical spinal canal stenosis | 1.5% | 2/136 |
| Clinodactyly | 1.5% | 2/136 |
| Clinodactyly of the 5th finger | 1.5% | 2/136 |
| Cubitus valgus | 1.5% | 2/136 |
| Deviation of toes | 1.5% | 2/136 |
| Generalized joint laxity | 1.5% | 2/136 |
| Large hands | 1.5% | 2/136 |
| Long fingers | 1.5% | 2/136 |
| Long foot | 1.5% | 2/136 |
| Long toe | 1.5% | 2/136 |
| Multiple joint dislocation | 1.5% | 2/136 |
| Spondylolisthesis | 1.5% | 2/136 |
| Thoracolumbar scoliosis | 1.5% | 2/136 |
| Thoracic scoliosis | 1.5% | 2/136 |
| Abnormality of toe | 0.7% | 1/136 |
| Abnormality of the thorax | 0.7% | 1/136 |
| Abnormal number of vertebrae | 0.7% | 1/136 |
| Ankle contracture | 0.7% | 1/136 |
| Arthropathy | 0.7% | 1/136 |
| Asymmetry of the thorax | 0.7% | 1/136 |
| Bifid distal phalanx of the thumb | 0.7% | 1/136 |
| Bilateral wrist flexion contracture | 0.7% | 1/136 |
| Brachycephaly | 0.7% | 1/136 |
| Broad neck | 0.7% | 1/136 |
| Camptodactyly | 0.7% | 1/136 |
| Clubbing of toes | 0.7% | 1/136 |
| Congenital bilateral hip dislocation | 0.7% | 1/136 |
| Congenital hip dislocation | 0.7% | 1/136 |
| Decreased muscle mass | 0.7% | 1/136 |
| Delayed tarsal ossification | 0.7% | 1/136 |
| Delayed skeletal maturation | 0.7% | 1/136 |
| Digital flexor tenosynovitis | 0.7% | 1/136 |
| Disproportionate tall stature | 0.7% | 1/136 |
| Elbow flexion contracture | 0.7% | 1/136 |
| Finger joint hypermobility | 0.7% | 1/136 |
| Fused cervical vertebrae | 0.7% | 1/136 |
| Fused lumbar vertebrae | 0.7% | 1/136 |
| Fused thoracic vertebrae | 0.7% | 1/136 |
| Hammertoe | 0.7% | 1/136 |
| Herniation of intervertebral nuclei | 0.7% | 1/136 |
| Hip Subluxation | 0.7% | 1/136 |
| Hyperlordosis | 0.7% | 1/136 |
| Hyperextensibility at wrists | 0.7% | 1/136 |
| Increased laxity of fingers | 0.7% | 1/136 |
| Joint hyperflexibility | 0.7% | 1/136 |
| Juvenile rheumatoid arthritis | 0.7% | 1/136 |
| Knee flexion contracture | 0.7% | 1/136 |
| Knee dislocation | 0.7% | 1/136 |
| Limb undergrowth | 0.7% | 1/136 |
| Limb joint contracture | 0.7% | 1/136 |
| Long palm | 0.7% | 1/136 |
| Long thorax | 0.7% | 1/136 |
| Lumbar hyperlordosis | 0.7% | 1/136 |
| Mandibular prognathia | 0.7% | 1/136 |
| Metopic synostosis | 0.7% | 1/136 |
| Narrow foot | 0.7% | 1/136 |
| Narrow chest | 0.7% | 1/136 |
| Overlapping toe | 0.7% | 1/136 |
| Pectus carinatum | 0.7% | 1/136 |
| Prominent metopic ridge | 0.7% | 1/136 |
| Prominent fingertip pads | 0.7% | 1/136 |
| Recurrent fractures | 0.7% | 1/136 |
| Sagittal craniosynostosis | 0.7% | 1/136 |
| Sandal gap | 0.7% | 1/136 |
| Scapular winging | 0.7% | 1/136 |
| Short middle phalanx of finger | 0.7% | 1/136 |
| Short femur | 0.7% | 1/136 |
| Short distal phalanx of finger | 0.7% | 1/136 |
| Shoulder dislocation | 0.7% | 1/136 |
| Slender finger | 0.7% | 1/136 |
| Talipes valgus | 0.7% | 1/136 |
| Trigonocephaly | 0.7% | 1/136 |
| Ulnar deviation of the wrist | 0.7% | 1/136 |
| Valgus foot deformity | 0.7% | 1/136 |
| Widened distal phalanges | 0.7% | 1/136 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 78.6% | 110/140 |
| Nevus | 10.7% | 15/140 |
| Fair hair | 7.1% | 10/140 |
| Dental malocclusion | 5.7% | 8/140 |
| Dry skin | 5.7% | 8/140 |
| Sacral dimple | 5.7% | 8/140 |
| Hypopigmentation of the skin | 5.0% | 7/140 |
| Soft skin | 5.0% | 7/140 |
| Thick hair | 5.0% | 7/140 |
| Wide intermamillary distance | 5.0% | 7/140 |
| Abnormality of hair pigmentation | 4.3% | 6/140 |
| Eczema | 4.3% | 6/140 |
| Fine hair | 4.3% | 6/140 |
| Hypodontia | 4.3% | 6/140 |
| Cafe-au-lait spot | 3.6% | 5/140 |
| Sparse hair | 3.6% | 5/140 |
| Abnormality of skin pigmentation | 2.9% | 4/140 |
| Abnormality of the hair | 2.9% | 4/140 |
| Hyperextensible skin | 2.9% | 4/140 |
| Acne | 2.1% | 3/140 |
| Brittle hair | 2.1% | 3/140 |
| Curly hair | 2.1% | 3/140 |
| Dry hair | 2.1% | 3/140 |
| Single transverse palmar crease | 2.1% | 3/140 |
| Vitiligo | 2.1% | 3/140 |
| Abnormality of hair texture | 1.4% | 2/140 |
| Bilateral single transverse palmar creases | 1.4% | 2/140 |
| Coarse hair | 1.4% | 2/140 |
| Hyperkeratosis | 1.4% | 2/140 |
| Ichthyosis | 1.4% | 2/140 |
| Inverted nipples | 1.4% | 2/140 |
| Numerous nevi | 1.4% | 2/140 |
| Shoulder dimples | 1.4% | 2/140 |
| Silver-gray hair | 1.4% | 2/140 |
| Abnormality of hair growth | 0.7% | 1/140 |
| Abnormal elasticity of skin | 0.7% | 1/140 |
| Abnormality of the nail | 0.7% | 1/140 |
| Alopecia | 0.7% | 1/140 |
| Aplasia cutis congenita of scalp | 0.7% | 1/140 |
| Aplasia cutis congenita over the scalp vertex | 0.7% | 1/140 |
| Atrophic scars | 0.7% | 1/140 |
| Atrophic, patchy alopecia | 0.7% | 1/140 |
| Bifid nail | 0.7% | 1/140 |
| Bruising susceptibility | 0.7% | 1/140 |
| Cutis laxa | 0.7% | 1/140 |
| Cyanosis | 0.7% | 1/140 |
| Deep palmar crease | 0.7% | 1/140 |
| Fragile nails | 0.7% | 1/140 |
| Hyperpigmentation of the skin | 0.7% | 1/140 |
| Hyperkeratosis pilaris | 0.7% | 1/140 |
| Hypohidrosis | 0.7% | 1/140 |
| Localized hirsutism | 0.7% | 1/140 |
| Low anterior hairline | 0.7% | 1/140 |
| Melanocytic nevus | 0.7% | 1/140 |
| Milia | 0.7% | 1/140 |
| Multiple cafe-au-lait spots | 0.7% | 1/140 |
| Multiple palmar creases | 0.7% | 1/140 |
| Nail dystrophy | 0.7% | 1/140 |
| Skin dimples | 0.7% | 1/140 |
| Soft, doughy skin | 0.7% | 1/140 |
| Sparse anterior scalp hair | 0.7% | 1/140 |
| Uncombable hair | 0.7% | 1/140 |
| Webbed neck | 0.7% | 1/140 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 8.7% | 9/104 |
| Growth hormone deficiency | 3.8% | 4/104 |
| Gonadotropin deficiency | 1.0% | 1/104 |
| Hypothyroidism | 1.0% | 1/104 |
| Precocious puberty | 1.0% | 1/104 |
| Primary adrenal insufficiency | 1.0% | 1/104 |
| Abnormality of the metabolic system | 7.8% | 8/103 |
| Neonatal hyperbilirubinemia | 1.9% | 2/103 |
| Neonatal hypoglycemia | 1.9% | 2/103 |
| Abnormality of circulating enzyme level | 1.0% | 1/103 |
| Anemia | 1.0% | 1/103 |
| Decreased activity of mitochondrial complex I | 1.0% | 1/103 |
| Hypoglycemia | 1.0% | 1/103 |
| Abnormality of the immune system | 41.4% | 46/111 |
| Recurrent otitis media | 6.3% | 7/111 |
| Recurrent respiratory infections | 4.5% | 5/111 |
| Recurrent urinary tract infections | 4.5% | 5/111 |
| Asthma | 3.6% | 4/111 |
| Recurrent upper respiratory tract infections | 3.6% | 4/111 |
| Recurrent infections | 3.6% | 4/111 |
| Neutropenia | 2.7% | 3/111 |
| Recurrent infections of the middle ear | 2.7% | 3/111 |
| Recurrent pneumonia | 2.7% | 3/111 |
| Chronic otitis media | 1.8% | 2/111 |
| Recurrent bronchitis | 1.8% | 2/111 |
| Aspiration pneumonia | 0.9% | 1/111 |
| Bronchitis | 0.9% | 1/111 |
| Bruising susceptibility | 0.9% | 1/111 |
| Easy fatigability | 0.9% | 1/111 |
| Recurrent cystitis | 0.9% | 1/111 |
| Sepsis | 0.9% | 1/111 |
| Neoplasia | ||
| Neoplasia | 9.6% | 10/104 |
| Hemangioma | 2.9% | 3/104 |
| Gait disturbance | 1.0% | 1/104 |
| Gait ataxia | 1.0% | 1/104 |
| Medulloblastoma | 1.0% | 1/104 |
| Melanoma | 1.0% | 1/104 |
| Testicular neoplasm | 1.0% | 1/104 |
| Verrucae | 1.0% | 1/104 |