KANSL1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 43.0% | 80/186 |
| Female | 57.0% | 106/186 |
| Indifferent | 0% | 0/186 |
| Unknown | 0% | 0/186 |
| General | ||
| Birth Length abnormalities | 5.7% | 9/157 |
| > P98 : Birth length greater than 97th percentile | 0.6% | 1/157 |
| < P3 : Birth length less than 3rd percentile | 5.1% | 8/157 |
| Birth Weight abnormalities | 15.2% | 27/178 |
| < P3 : Small for gestational age | 15.2% | 27/178 |
| Birth Head circumference abnormalities | 2.5% | 4/158 |
| > P98 : Macrocephaly at birth | 1.9% | 3/158 |
| < P3 : Congenital microcephaly | 0.6% | 1/158 |
| Current Height abnormalities | 18.4% | 33/179 |
| < P3 : Short stature | 17.9% | 32/179 |
| > P98 : Tall stature | 0.6% | 1/179 |
| Current Weight abnormalities | 8.7% | 15/173 |
| < P3 : Decreased body weight | 8.1% | 14/173 |
| > P98 : Increased body weight | 0.6% | 1/173 |
| Current Head circumference abnormalities | 8.9% | 16/180 |
| > P98 : Macrocephaly | 6.1% | 11/180 |
| < P3 : Microcephaly | 2.8% | 5/180 |
| Neurology | ||
| Neurological abnormalities | 92.9% | 158/170 |
| Generalized hypotonia | 67.6% | 115/170 |
| Seizures | 35.9% | 61/170 |
| EEG abnormality | 20.6% | 35/170 |
| Neonatal hypotonia | 4.7% | 8/170 |
| Generalized tonic-clonic seizures | 3.5% | 6/170 |
| Speech apraxia | 2.9% | 5/170 |
| Febrile seizures | 2.4% | 4/170 |
| Absence seizures | 1.8% | 3/170 |
| Dysarthria | 1.8% | 3/170 |
| Global developmental delay | 1.8% | 3/170 |
| Status epilepticus | 1.8% | 3/170 |
| Delayed speech and language development | 1.2% | 2/170 |
| Focal seizures | 1.2% | 2/170 |
| Impaired pain sensation | 1.2% | 2/170 |
| Unsteady gait | 1.2% | 2/170 |
| Abnormality of the periventricular white matter | 0.6% | 1/170 |
| Ankle clonus | 0.6% | 1/170 |
| Apraxia | 0.6% | 1/170 |
| Ataxia | 0.6% | 1/170 |
| Atonic seizures | 0.6% | 1/170 |
| Broad-based gait | 0.6% | 1/170 |
| Communicating hydrocephalus | 0.6% | 1/170 |
| Dysmetria | 0.6% | 1/170 |
| EEG with generalized epileptiform discharges | 0.6% | 1/170 |
| EEG with focal sharp slow waves | 0.6% | 1/170 |
| Epileptic spasms | 0.6% | 1/170 |
| Epileptiform EEG discharges | 0.6% | 1/170 |
| Gait ataxia | 0.6% | 1/170 |
| Generalized muscle weakness | 0.6% | 1/170 |
| Generalized clonic seizures | 0.6% | 1/170 |
| Hemiclonic seizures | 0.6% | 1/170 |
| Hemiparesis | 0.6% | 1/170 |
| Hypertonia | 0.6% | 1/170 |
| Hypsarrhythmia | 0.6% | 1/170 |
| Impaired visuospatial constructive cognition | 0.6% | 1/170 |
| Inability to walk | 0.6% | 1/170 |
| Infantile muscular hypotonia | 0.6% | 1/170 |
| Infantile spasms | 0.6% | 1/170 |
| Limb apraxia | 0.6% | 1/170 |
| Lower limb hyperreflexia | 0.6% | 1/170 |
| Medulloblastoma | 0.6% | 1/170 |
| Moderate global developmental delay | 0.6% | 1/170 |
| Muscle weakness | 0.6% | 1/170 |
| Neurological speech impairment | 0.6% | 1/170 |
| Oromotor apraxia | 0.6% | 1/170 |
| Severe muscular hypotonia | 0.6% | 1/170 |
| Simple febrile seizures | 0.6% | 1/170 |
| Tetraplegia | 0.6% | 1/170 |
| Behavioral problems | 88.8% | 142/160 |
| Overfriendliness | 48.8% | 78/160 |
| Anxiety | 10.6% | 17/160 |
| Global developmental delay | 10.6% | 17/160 |
| Abnormal social behavior | 8.1% | 13/160 |
| Attention deficit hyperactivity disorder | 8.1% | 13/160 |
| Short attention span | 6.3% | 10/160 |
| Autistic behavior | 5.0% | 8/160 |
| Hyperactivity | 5.0% | 8/160 |
| Poor eye contact | 5.0% | 8/160 |
| Behavioral abnormality | 4.4% | 7/160 |
| Impaired social interactions | 2.5% | 4/160 |
| Obsessive-compulsive behavior | 2.5% | 4/160 |
| Stereotypic behavior | 2.5% | 4/160 |
| Impulsivity | 1.9% | 3/160 |
| Inflexible adherence to routines or rituals | 1.9% | 3/160 |
| Aggressive behavior | 1.3% | 2/160 |
| Oppositional defiant disorder | 1.3% | 2/160 |
| Perseveration | 1.3% | 2/160 |
| Shyness | 1.3% | 2/160 |
| Sleep disturbance | 1.3% | 2/160 |
| Agitation | 0.6% | 1/160 |
| Delayed social development | 0.6% | 1/160 |
| Depression | 0.6% | 1/160 |
| Eye poking | 0.6% | 1/160 |
| Insomnia | 0.6% | 1/160 |
| Irritability | 0.6% | 1/160 |
| Phonophobia | 0.6% | 1/160 |
| Polydipsia | 0.6% | 1/160 |
| Polyphagia | 0.6% | 1/160 |
| Psychosis | 0.6% | 1/160 |
| Seizures | 0.6% | 1/160 |
| Self-biting | 0.6% | 1/160 |
| Brain abnormality | 61.4% | 70/114 |
| Ventriculomegaly | 15.8% | 18/114 |
| Aplasia/Hypoplasia of the corpus callosum | 7.0% | 8/114 |
| Abnormality of the cerebral ventricles | 5.3% | 6/114 |
| Hydrocephalus | 5.3% | 6/114 |
| Hypoplasia of the corpus callosum | 5.3% | 6/114 |
| Agenesis of corpus callosum | 4.4% | 5/114 |
| EEG abnormality | 4.4% | 5/114 |
| Dilation of lateral ventricles | 3.5% | 4/114 |
| Delayed CNS myelination | 2.6% | 3/114 |
| Perivascular spaces | 2.6% | 3/114 |
| Abnormality of lateral ventricle | 1.8% | 2/114 |
| Abnormality of the corpus callosum | 1.8% | 2/114 |
| Abnormality of the cerebral white matter | 1.8% | 2/114 |
| Arnold-Chiari type I malformation | 1.8% | 2/114 |
| Cerebral atrophy | 1.8% | 2/114 |
| Cerebral white matter atrophy | 1.8% | 2/114 |
| Choroid plexus cyst | 1.8% | 2/114 |
| Dysplastic corpus callosum | 1.8% | 2/114 |
| Heterotopia | 1.8% | 2/114 |
| Abnormality of brain morphology | 0.9% | 1/114 |
| Abnormality of the pituitary gland | 0.9% | 1/114 |
| Abnormality of the periventricular white matter | 0.9% | 1/114 |
| Abnormality of neuronal migration | 0.9% | 1/114 |
| Abnormality of the septum pellucidum | 0.9% | 1/114 |
| Abnormality of the posterior cranial fossa | 0.9% | 1/114 |
| Abnormality of the posterior pituitary | 0.9% | 1/114 |
| Anterior pituitary hypoplasia | 0.9% | 1/114 |
| Cerebral hemorrhage | 0.9% | 1/114 |
| Cerebellar hypoplasia | 0.9% | 1/114 |
| Cervical cord compression | 0.9% | 1/114 |
| Colpocephaly | 0.9% | 1/114 |
| Communicating hydrocephalus | 0.9% | 1/114 |
| Cortical dysplasia | 0.9% | 1/114 |
| Cranial nerve VI palsy | 0.9% | 1/114 |
| Dolichocephaly | 0.9% | 1/114 |
| Dural ectasia | 0.9% | 1/114 |
| Enlarged cisterna magna | 0.9% | 1/114 |
| Generalized cerebral atrophy/hypoplasia | 0.9% | 1/114 |
| Gliosis | 0.9% | 1/114 |
| Gray matter heterotopias | 0.9% | 1/114 |
| Hydromyelia | 0.9% | 1/114 |
| Intraventricular hemorrhage | 0.9% | 1/114 |
| Limbic malformations | 0.9% | 1/114 |
| Macrocephaly | 0.9% | 1/114 |
| Medulloblastoma | 0.9% | 1/114 |
| Partial agenesis of the corpus callosum | 0.9% | 1/114 |
| Periventricular white matter hypodensities | 0.9% | 1/114 |
| Pineal cyst | 0.9% | 1/114 |
| Spina bifida | 0.9% | 1/114 |
| Syringomyelia | 0.9% | 1/114 |
| Tethered cord | 0.9% | 1/114 |
| Widened subarachnoid space | 0.9% | 1/114 |
| Facial abnormalities | ||
| Abnormality of the ear | 66.4% | 85/128 |
| Macrotia | 31.3% | 40/128 |
| Protruding ear | 28.9% | 37/128 |
| Low-set ears | 25.0% | 32/128 |
| Anteverted ears | 4.7% | 6/128 |
| Low-set, posteriorly rotated ears | 4.7% | 6/128 |
| Microtia | 3.9% | 5/128 |
| Cupped ear | 3.1% | 4/128 |
| Overfolded helix | 2.3% | 3/128 |
| Large earlobe | 1.6% | 2/128 |
| Preauricular pit | 1.6% | 2/128 |
| Small earlobe | 1.6% | 2/128 |
| Underdeveloped crus of the helix | 1.6% | 2/128 |
| Abnormality of the pinna | 0.8% | 1/128 |
| Abnormality of earlobe | 0.8% | 1/128 |
| Abnormally folded helix | 0.8% | 1/128 |
| Abnormality of the helix | 0.8% | 1/128 |
| Darwin tubercle of helix | 0.8% | 1/128 |
| Hypoplasia of the ear cartilage | 0.8% | 1/128 |
| Overfolding of the superior helices | 0.8% | 1/128 |
| Posteriorly rotated ears | 0.8% | 1/128 |
| Prominent ear helix | 0.8% | 1/128 |
| Round ear | 0.8% | 1/128 |
| Stenosis of the external auditory canal | 0.8% | 1/128 |
| Thickened helices | 0.8% | 1/128 |
| Thickened ears | 0.8% | 1/128 |
| Underdeveloped superior crus of antihelix | 0.8% | 1/128 |
| Abnormality of the eye | 91.2% | 124/136 |
| Upslanted palpebral fissure | 52.9% | 72/136 |
| Epicanthus | 41.2% | 56/136 |
| Ptosis | 27.9% | 38/136 |
| Blepharophimosis | 24.3% | 33/136 |
| Hypertelorism | 14.0% | 19/136 |
| Iris hypopigmentation | 11.8% | 16/136 |
| Prominent epicanthal folds | 5.9% | 8/136 |
| Sparse eyebrow | 4.4% | 6/136 |
| Strabismus | 4.4% | 6/136 |
| Deeply set eye | 3.7% | 5/136 |
| Astigmatism | 2.2% | 3/136 |
| Short palpebral fissure | 2.2% | 3/136 |
| Hypermetropia | 1.5% | 2/136 |
| Small palpebral fissure | 1.5% | 2/136 |
| Telecanthus | 1.5% | 2/136 |
| Abnormality of the lens | 0.7% | 1/136 |
| Almond-shaped palpebral fissure | 0.7% | 1/136 |
| Downslanted palpebral fissures | 0.7% | 1/136 |
| Epicanthus inversus | 0.7% | 1/136 |
| Esotropia | 0.7% | 1/136 |
| Exotropia | 0.7% | 1/136 |
| Facial hemangioma | 0.7% | 1/136 |
| Heterochromia iridis | 0.7% | 1/136 |
| Infra-orbital crease | 0.7% | 1/136 |
| Lacrimal duct stenosis | 0.7% | 1/136 |
| Nystagmus | 0.7% | 1/136 |
| Periorbital fullness | 0.7% | 1/136 |
| Severe Myopia | 0.7% | 1/136 |
| Thick eyebrow | 0.7% | 1/136 |
| Abnormality of the nose | 91.5% | 119/130 |
| Bulbous nose | 63.8% | 83/130 |
| Pear-shaped nose | 60.0% | 78/130 |
| Prominent nasal bridge | 6.9% | 9/130 |
| Broad nasal tip | 4.6% | 6/130 |
| Underdeveloped nasal alae | 4.6% | 6/130 |
| Wide nose | 4.6% | 6/130 |
| Low hanging columella | 3.8% | 5/130 |
| Prominent nasal tip | 3.8% | 5/130 |
| Depressed nasal bridge | 3.1% | 4/130 |
| Wide nasal bridge | 3.1% | 4/130 |
| Wide nasal base | 3.1% | 4/130 |
| Anteverted nares | 2.3% | 3/130 |
| Long nose | 2.3% | 3/130 |
| Prominent nose | 2.3% | 3/130 |
| Thick nasal alae | 2.3% | 3/130 |
| Broad columella | 1.5% | 2/130 |
| Cleft ala nasi | 1.5% | 2/130 |
| Abnormality of the nasal bridge | 0.8% | 1/130 |
| Abnormality of the columella | 0.8% | 1/130 |
| Abnormality of the external nose | 0.8% | 1/130 |
| Hypoplastic nasal septum | 0.8% | 1/130 |
| Narrow nose | 0.8% | 1/130 |
| Nasal obstruction | 0.8% | 1/130 |
| Short nose | 0.8% | 1/130 |
| Abnormality of the mouth | 88.7% | 149/168 |
| Everted lower lip vermilion | 23.8% | 40/168 |
| Drooling | 18.5% | 31/168 |
| High, narrow palate | 12.5% | 21/168 |
| Chewing difficulties | 11.9% | 20/168 |
| Open mouth | 10.7% | 18/168 |
| Long philtrum | 10.1% | 17/168 |
| High palate | 9.5% | 16/168 |
| Broad chin | 7.7% | 13/168 |
| Macroglossia | 7.1% | 12/168 |
| Deep philtrum | 6.5% | 11/168 |
| Protruding tongue | 5.4% | 9/168 |
| Reduced number of teeth | 5.4% | 9/168 |
| Thin upper lip vermilion | 5.4% | 9/168 |
| Widely spaced teeth | 4.8% | 8/168 |
| Microdontia | 4.2% | 7/168 |
| Cleft palate | 3.6% | 6/168 |
| Short philtrum | 3.6% | 6/168 |
| Tented upper lip vermilion | 3.0% | 5/168 |
| Thick lower lip vermilion | 3.0% | 5/168 |
| Wide mouth | 3.0% | 5/168 |
| Thick vermilion border | 2.4% | 4/168 |
| Ankyloglossia | 1.8% | 3/168 |
| Carious teeth | 1.8% | 3/168 |
| Conical tooth | 1.8% | 3/168 |
| Dental malocclusion | 1.8% | 3/168 |
| Mandibular prognathia | 1.8% | 3/168 |
| Oral cleft | 1.8% | 3/168 |
| Smooth philtrum | 1.8% | 3/168 |
| Bilateral cleft lip and palate | 1.2% | 2/168 |
| Broad philtrum | 1.2% | 2/168 |
| Diastema | 1.2% | 2/168 |
| Downturned corners of mouth | 1.2% | 2/168 |
| Gingival overgrowth | 1.2% | 2/168 |
| Hypodontia | 1.2% | 2/168 |
| Hypoplasia of dental enamel | 1.2% | 2/168 |
| Micrognathia | 1.2% | 2/168 |
| Retrognathia | 1.2% | 2/168 |
| Thick upper lip vermilion | 1.2% | 2/168 |
| Unilateral cleft lip | 1.2% | 2/168 |
| Abnormality of oral frenula | 0.6% | 1/168 |
| Abnormal number of incisors | 0.6% | 1/168 |
| Abnormality of the lip | 0.6% | 1/168 |
| Abnormality of the tongue | 0.6% | 1/168 |
| Abnormality of the gingiva | 0.6% | 1/168 |
| Abnormality of the palate | 0.6% | 1/168 |
| Agenesis of permanent teeth | 0.6% | 1/168 |
| Agenesis of premolar | 0.6% | 1/168 |
| Agenesis of lateral incisor | 0.6% | 1/168 |
| Agenesis of maxillary incisor | 0.6% | 1/168 |
| Anterior open-bite malocclusion | 0.6% | 1/168 |
| Bilateral cleft lip | 0.6% | 1/168 |
| Cleft upper lip | 0.6% | 1/168 |
| Conical maxillary incisor | 0.6% | 1/168 |
| Conical incisor | 0.6% | 1/168 |
| Everted upper lip vermilion | 0.6% | 1/168 |
| Exaggerated median tongue furrow | 0.6% | 1/168 |
| Overbite | 0.6% | 1/168 |
| Thin vermilion border | 0.6% | 1/168 |
| Unilateral cleft palate | 0.6% | 1/168 |
| Widely-spaced maxillary central incisors | 0.6% | 1/168 |
| Visual and hearing impairments | ||
| Abnormal hearing | 20.9% | 27/129 |
| Hearing impairment | 10.1% | 13/129 |
| Conductive hearing impairment | 2.3% | 3/129 |
| Mild conductive hearing impairment | 0.8% | 1/129 |
| Mild hearing impairment | 0.8% | 1/129 |
| Moderate sensorineural hearing impairment | 0.8% | 1/129 |
| Unilateral conductive hearing impairment | 0.8% | 1/129 |
| Abnormal vision | 55.6% | 89/160 |
| Hypermetropia | 19.4% | 31/160 |
| Strabismus | 18.1% | 29/160 |
| Visual impairment | 8.8% | 14/160 |
| Cataract | 2.5% | 4/160 |
| Esotropia | 1.9% | 3/160 |
| Myopia | 1.9% | 3/160 |
| Cortical visual impairment | 1.3% | 2/160 |
| Exotropia | 1.3% | 2/160 |
| Nystagmus | 1.3% | 2/160 |
| Optic disc pallor | 1.3% | 2/160 |
| Abnormality of the optic disc | 0.6% | 1/160 |
| Abnormal iris pigmentation | 0.6% | 1/160 |
| Abnormal amplitude of dark-adapted dim flash electroretinogram | 0.6% | 1/160 |
| Abnormality of visual evoked potentials | 0.6% | 1/160 |
| Abnormal amplitude of dark-adapted bright flash electroretinogram | 0.6% | 1/160 |
| Abnormality of the vasculature of the eye | 0.6% | 1/160 |
| Abnormality of macular pigmentation | 0.6% | 1/160 |
| Alternating esotropia | 0.6% | 1/160 |
| Amblyopia | 0.6% | 1/160 |
| Astigmatism | 0.6% | 1/160 |
| Attenuation of retinal blood vessels | 0.6% | 1/160 |
| Bone spicule pigmentation of the retina | 0.6% | 1/160 |
| Brushfield spots | 0.6% | 1/160 |
| Chorioretinal coloboma | 0.6% | 1/160 |
| Congenital cataract | 0.6% | 1/160 |
| Macular dystrophy | 0.6% | 1/160 |
| Macular scarring | 0.6% | 1/160 |
| Optic atrophy | 0.6% | 1/160 |
| Vitreous floaters | 0.6% | 1/160 |
| Heart | ||
| Abnormality of the heart | 37.8% | 56/148 |
| Atria septal defect | 10.8% | 16/148 |
| Ventricular septal defect | 6.8% | 10/148 |
| Abnormality of the atrial septum | 2.7% | 4/148 |
| Bicuspid aortic valve | 2.7% | 4/148 |
| Patent foramen ovale | 2.7% | 4/148 |
| Abnormality of the ventricular septum | 2.0% | 3/148 |
| Aortic dilatation | 2.0% | 3/148 |
| Mitral regurgitation | 2.0% | 3/148 |
| Secundum atrial septal defect | 2.0% | 3/148 |
| Tricuspid regurgitation | 2.0% | 3/148 |
| Abnormality of the cardiovascular system | 1.4% | 2/148 |
| Cardiomyopathy | 1.4% | 2/148 |
| Heart murmur | 1.4% | 2/148 |
| Muscular ventricular septal defect | 1.4% | 2/148 |
| Patent ductus arteriosus | 1.4% | 2/148 |
| Abnormality of the mitral valve | 0.7% | 1/148 |
| Abnormality of the pulmonary veins | 0.7% | 1/148 |
| Abnormality of the left ventricle | 0.7% | 1/148 |
| Abnormality of the systemic arterial tree | 0.7% | 1/148 |
| Abnormality of the aortic valve | 0.7% | 1/148 |
| Aortic valve stenosis | 0.7% | 1/148 |
| Cyanosis | 0.7% | 1/148 |
| Dysplastic aortic valve | 0.7% | 1/148 |
| Dysplastic pulmonary valve | 0.7% | 1/148 |
| Hypertension | 0.7% | 1/148 |
| Mitral valve prolapse | 0.7% | 1/148 |
| Prolonged QT interval | 0.7% | 1/148 |
| Right atrial enlargement | 0.7% | 1/148 |
| Right ventricular dilatation | 0.7% | 1/148 |
| Tachypnea | 0.7% | 1/148 |
| Ventricular aneurysm | 0.7% | 1/148 |
| Pulmonary | ||
| Abnormality of the lungs | 30.0% | 3/10 |
| Asthma | 10.0% | 1/10 |
| Pulmonic stenosis | 10.0% | 1/10 |
| Respiratory infections in early life | 10.0% | 1/10 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 68.8% | 95/138 |
| Feeding difficulties | 48.6% | 67/138 |
| Gastroesophageal reflux | 9.4% | 13/138 |
| Tracheomalacia | 7.2% | 10/138 |
| Poor suck | 5.8% | 8/138 |
| Constipation | 3.6% | 5/138 |
| Feeding difficulties in infancy | 3.6% | 5/138 |
| Inguinal hernia | 3.6% | 5/138 |
| Umbilical hernia | 2.2% | 3/138 |
| Chronic constipation | 1.4% | 2/138 |
| Dysphagia | 1.4% | 2/138 |
| Anal fistula | 0.7% | 1/138 |
| Chewing difficulties | 0.7% | 1/138 |
| Drooling | 0.7% | 1/138 |
| Elevated hepatic transaminases | 0.7% | 1/138 |
| Episodic vomiting | 0.7% | 1/138 |
| Intestinal malrotation | 0.7% | 1/138 |
| Laryngomalacia | 0.7% | 1/138 |
| Pyloric stenosis | 0.7% | 1/138 |
| Respiratory infections in early life | 0.7% | 1/138 |
| Urogenital | ||
| Abnormality of the urogenital system | 49.7% | 71/143 |
| Cryptorchidism | 12.6% | 18/143 |
| Hydronephrosis | 9.1% | 13/143 |
| Vesicoureteral reflux | 7.0% | 10/143 |
| Bilateral cryptorchidism | 5.6% | 8/143 |
| Fetal pyelectasis | 2.8% | 4/143 |
| Renal duplication | 2.8% | 4/143 |
| Micropenis | 2.1% | 3/143 |
| Dilatation of the renal pelvis | 1.4% | 2/143 |
| Scrotal hypoplasia | 1.4% | 2/143 |
| Ureteropelvic junction obstruction | 1.4% | 2/143 |
| Abnormality of the bladder | 0.7% | 1/143 |
| Abnormality of the kidney | 0.7% | 1/143 |
| Enuresis diurna | 0.7% | 1/143 |
| Enuresis nocturna | 0.7% | 1/143 |
| Hypospadias | 0.7% | 1/143 |
| Macroorchidism | 0.7% | 1/143 |
| Multicystic kidney dysplasia | 0.7% | 1/143 |
| Phimosis | 0.7% | 1/143 |
| Polyuria | 0.7% | 1/143 |
| Pyelonephritis | 0.7% | 1/143 |
| Recurrent urinary tract infections | 0.7% | 1/143 |
| Renal insufficiency | 0.7% | 1/143 |
| Retractile testis | 0.7% | 1/143 |
| Scrotal hypospadias | 0.7% | 1/143 |
| Shawl scrotum | 0.7% | 1/143 |
| Unilateral cryptorchidism | 0.7% | 1/143 |
| Ureterocele | 0.7% | 1/143 |
| Urinary incontinence | 0.7% | 1/143 |
| Skeleton | ||
| Skeletal abnormalities | 83.1% | 123/148 |
| Joint laxity | 31.8% | 47/148 |
| Pes planus | 16.2% | 24/148 |
| Arachnodactyly | 14.9% | 22/148 |
| Scoliosis | 11.5% | 17/148 |
| Slender build | 9.5% | 14/148 |
| Abnormality of the curvature of the vertebral column | 7.4% | 11/148 |
| Narrow palm | 7.4% | 11/148 |
| Hip dysplasia | 6.8% | 10/148 |
| Pectus excavatum | 6.8% | 10/148 |
| Joint hypermobility | 6.1% | 9/148 |
| Positional foot deformity | 5.4% | 8/148 |
| Abnormality of the musculature of the hand | 4.7% | 7/148 |
| Hip dislocation | 4.1% | 6/148 |
| Kyphosis | 4.1% | 6/148 |
| Long fingers | 4.1% | 6/148 |
| Abnormality of the hip joint | 3.4% | 5/148 |
| Lower limb asymmetry | 3.4% | 5/148 |
| Pes cavus | 3.4% | 5/148 |
| Shield chest | 3.4% | 5/148 |
| Abnormality of the sternum | 2.7% | 4/148 |
| Broad thumb | 2.7% | 4/148 |
| Hallux valgus | 2.7% | 4/148 |
| Abnormality of the lower limb | 2.0% | 3/148 |
| Clinodactyly of the 5th finger | 2.0% | 3/148 |
| Dolichocephaly | 2.0% | 3/148 |
| Genu valgum | 2.0% | 3/148 |
| Short neck | 2.0% | 3/148 |
| Slender finger | 2.0% | 3/148 |
| Talipes equinovarus | 2.0% | 3/148 |
| Bilateral talipes equinovarus | 1.4% | 2/148 |
| Broad hallux | 1.4% | 2/148 |
| Calcaneovalgus deformity | 1.4% | 2/148 |
| Cervical spinal canal stenosis | 1.4% | 2/148 |
| Clinodactyly | 1.4% | 2/148 |
| Cubitus valgus | 1.4% | 2/148 |
| Deviation of toes | 1.4% | 2/148 |
| Generalized joint laxity | 1.4% | 2/148 |
| Large hands | 1.4% | 2/148 |
| Long toe | 1.4% | 2/148 |
| Long foot | 1.4% | 2/148 |
| Multiple joint dislocation | 1.4% | 2/148 |
| Pectus carinatum | 1.4% | 2/148 |
| Spondylolisthesis | 1.4% | 2/148 |
| Thoracic scoliosis | 1.4% | 2/148 |
| Thoracolumbar scoliosis | 1.4% | 2/148 |
| Valgus foot deformity | 1.4% | 2/148 |
| Abnormal number of vertebrae | 0.7% | 1/148 |
| Abnormality of the acetabulum | 0.7% | 1/148 |
| Abnormality of toe | 0.7% | 1/148 |
| Abnormality of the thorax | 0.7% | 1/148 |
| Ankle contracture | 0.7% | 1/148 |
| Arthropathy | 0.7% | 1/148 |
| Asymmetry of the thorax | 0.7% | 1/148 |
| Bifid distal phalanx of the thumb | 0.7% | 1/148 |
| Bilateral wrist flexion contracture | 0.7% | 1/148 |
| Brachycephaly | 0.7% | 1/148 |
| Broad neck | 0.7% | 1/148 |
| Camptodactyly | 0.7% | 1/148 |
| Clubbing of toes | 0.7% | 1/148 |
| Congenital bilateral hip dislocation | 0.7% | 1/148 |
| Congenital hip dislocation | 0.7% | 1/148 |
| Coxa valga | 0.7% | 1/148 |
| Decreased muscle mass | 0.7% | 1/148 |
| Delayed skeletal maturation | 0.7% | 1/148 |
| Delayed tarsal ossification | 0.7% | 1/148 |
| Digital flexor tenosynovitis | 0.7% | 1/148 |
| Disproportionate tall stature | 0.7% | 1/148 |
| Elbow flexion contracture | 0.7% | 1/148 |
| Finger joint hypermobility | 0.7% | 1/148 |
| Fused cervical vertebrae | 0.7% | 1/148 |
| Fused thoracic vertebrae | 0.7% | 1/148 |
| Fused lumbar vertebrae | 0.7% | 1/148 |
| Hammertoe | 0.7% | 1/148 |
| Hemivertebrae | 0.7% | 1/148 |
| Herniation of intervertebral nuclei | 0.7% | 1/148 |
| Hip Subluxation | 0.7% | 1/148 |
| Hyperextensibility at wrists | 0.7% | 1/148 |
| Hyperlordosis | 0.7% | 1/148 |
| Increased laxity of fingers | 0.7% | 1/148 |
| Joint hyperflexibility | 0.7% | 1/148 |
| Juvenile rheumatoid arthritis | 0.7% | 1/148 |
| Knee dislocation | 0.7% | 1/148 |
| Knee flexion contracture | 0.7% | 1/148 |
| Limb undergrowth | 0.7% | 1/148 |
| Limb joint contracture | 0.7% | 1/148 |
| Long palm | 0.7% | 1/148 |
| Long thorax | 0.7% | 1/148 |
| Lumbar scoliosis | 0.7% | 1/148 |
| Lumbar hyperlordosis | 0.7% | 1/148 |
| Mandibular prognathia | 0.7% | 1/148 |
| Metopic synostosis | 0.7% | 1/148 |
| Narrow chest | 0.7% | 1/148 |
| Narrow foot | 0.7% | 1/148 |
| Overlapping toe | 0.7% | 1/148 |
| Prominent fingertip pads | 0.7% | 1/148 |
| Prominent metopic ridge | 0.7% | 1/148 |
| Proximal placement of hallux | 0.7% | 1/148 |
| Recurrent fractures | 0.7% | 1/148 |
| Sagittal craniosynostosis | 0.7% | 1/148 |
| Sandal gap | 0.7% | 1/148 |
| Scapular winging | 0.7% | 1/148 |
| Short femur | 0.7% | 1/148 |
| Short toe | 0.7% | 1/148 |
| Short middle phalanx of finger | 0.7% | 1/148 |
| Short distal phalanx of finger | 0.7% | 1/148 |
| Shoulder dislocation | 0.7% | 1/148 |
| Talipes valgus | 0.7% | 1/148 |
| Thoracic kyphosis | 0.7% | 1/148 |
| Trigonocephaly | 0.7% | 1/148 |
| Ulnar deviation of the wrist | 0.7% | 1/148 |
| Widened distal phalanges | 0.7% | 1/148 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 79.1% | 121/153 |
| Nevus | 11.1% | 17/153 |
| Wide intermamillary distance | 7.2% | 11/153 |
| Dry skin | 6.5% | 10/153 |
| Fair hair | 6.5% | 10/153 |
| Sacral dimple | 6.5% | 10/153 |
| Dental malocclusion | 5.2% | 8/153 |
| Hypopigmentation of the skin | 5.2% | 8/153 |
| Thick hair | 5.2% | 8/153 |
| Cafe-au-lait spot | 4.6% | 7/153 |
| Fine hair | 4.6% | 7/153 |
| Soft skin | 4.6% | 7/153 |
| Abnormality of hair pigmentation | 3.9% | 6/153 |
| Eczema | 3.9% | 6/153 |
| Hypodontia | 3.9% | 6/153 |
| Sparse hair | 3.3% | 5/153 |
| Abnormality of skin pigmentation | 2.6% | 4/153 |
| Abnormality of the hair | 2.6% | 4/153 |
| Dry hair | 2.6% | 4/153 |
| Hyperextensible skin | 2.6% | 4/153 |
| Single transverse palmar crease | 2.6% | 4/153 |
| Acne | 2.0% | 3/153 |
| Brittle hair | 2.0% | 3/153 |
| Coarse hair | 2.0% | 3/153 |
| Curly hair | 2.0% | 3/153 |
| Vitiligo | 2.0% | 3/153 |
| Abnormality of the nipple | 1.3% | 2/153 |
| Abnormality of hair texture | 1.3% | 2/153 |
| Bilateral single transverse palmar creases | 1.3% | 2/153 |
| Hyperpigmented nevi | 1.3% | 2/153 |
| Hyperpigmentation of the skin | 1.3% | 2/153 |
| Hyperkeratosis | 1.3% | 2/153 |
| Ichthyosis | 1.3% | 2/153 |
| Inverted nipples | 1.3% | 2/153 |
| Low anterior hairline | 1.3% | 2/153 |
| Multiple cafe-au-lait spots | 1.3% | 2/153 |
| Numerous nevi | 1.3% | 2/153 |
| Shoulder dimples | 1.3% | 2/153 |
| Silver-gray hair | 1.3% | 2/153 |
| Abnormality of the nail | 0.7% | 1/153 |
| Abnormality of hair growth | 0.7% | 1/153 |
| Abnormal elasticity of skin | 0.7% | 1/153 |
| Abnormally lax or hyperextensible skin | 0.7% | 1/153 |
| Alopecia | 0.7% | 1/153 |
| Aplasia cutis congenita over the scalp vertex | 0.7% | 1/153 |
| Aplasia cutis congenita of scalp | 0.7% | 1/153 |
| Atrophic, patchy alopecia | 0.7% | 1/153 |
| Atrophic scars | 0.7% | 1/153 |
| Bifid nail | 0.7% | 1/153 |
| Bruising susceptibility | 0.7% | 1/153 |
| Cutis laxa | 0.7% | 1/153 |
| Cyanosis | 0.7% | 1/153 |
| Deep palmar crease | 0.7% | 1/153 |
| Fragile nails | 0.7% | 1/153 |
| Hyperkeratosis pilaris | 0.7% | 1/153 |
| Hypohidrosis | 0.7% | 1/153 |
| Hypopigmented skin patches | 0.7% | 1/153 |
| Localized hirsutism | 0.7% | 1/153 |
| Melanocytic nevus | 0.7% | 1/153 |
| Milia | 0.7% | 1/153 |
| Multiple palmar creases | 0.7% | 1/153 |
| Nail dystrophy | 0.7% | 1/153 |
| Skin dimples | 0.7% | 1/153 |
| Soft, doughy skin | 0.7% | 1/153 |
| Sparse anterior scalp hair | 0.7% | 1/153 |
| Uncombable hair | 0.7% | 1/153 |
| Webbed neck | 0.7% | 1/153 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 8.8% | 10/113 |
| Growth hormone deficiency | 3.5% | 4/113 |
| Gonadotropin deficiency | 0.9% | 1/113 |
| Hyperthyroidism | 0.9% | 1/113 |
| Hypothyroidism | 0.9% | 1/113 |
| Precocious puberty | 0.9% | 1/113 |
| Primary adrenal insufficiency | 0.9% | 1/113 |
| Abnormality of the metabolic system | 7.2% | 8/111 |
| Neonatal hypoglycemia | 1.8% | 2/111 |
| Neonatal hyperbilirubinemia | 1.8% | 2/111 |
| Abnormality of circulating enzyme level | 0.9% | 1/111 |
| Anemia | 0.9% | 1/111 |
| Decreased activity of mitochondrial complex I | 0.9% | 1/111 |
| Hypoglycemia | 0.9% | 1/111 |
| Abnormality of the immune system | 39.5% | 47/119 |
| Recurrent otitis media | 5.9% | 7/119 |
| Recurrent urinary tract infections | 4.2% | 5/119 |
| Recurrent respiratory infections | 4.2% | 5/119 |
| Asthma | 3.4% | 4/119 |
| Recurrent upper respiratory tract infections | 3.4% | 4/119 |
| Recurrent infections | 3.4% | 4/119 |
| Neutropenia | 2.5% | 3/119 |
| Recurrent pneumonia | 2.5% | 3/119 |
| Recurrent infections of the middle ear | 2.5% | 3/119 |
| Chronic otitis media | 1.7% | 2/119 |
| Recurrent bronchitis | 1.7% | 2/119 |
| Aspiration pneumonia | 0.8% | 1/119 |
| Bronchitis | 0.8% | 1/119 |
| Bruising susceptibility | 0.8% | 1/119 |
| Celiac disease | 0.8% | 1/119 |
| Easy fatigability | 0.8% | 1/119 |
| Recurrent cystitis | 0.8% | 1/119 |
| Sepsis | 0.8% | 1/119 |
| Neoplasia | ||
| Neoplasia | 8.9% | 10/112 |
| Hemangioma | 2.7% | 3/112 |
| Gait ataxia | 0.9% | 1/112 |
| Gait disturbance | 0.9% | 1/112 |
| Medulloblastoma | 0.9% | 1/112 |
| Melanoma | 0.9% | 1/112 |
| Testicular neoplasm | 0.9% | 1/112 |
| Verrucae | 0.9% | 1/112 |