ARID1A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.9% | 56/110 |
| Female | 48.2% | 53/110 |
| Indifferent | 0% | 0/110 |
| Unknown | 0.9% | 1/110 |
| General | ||
| Birth Length abnormalities | 2.8% | 3/107 |
| < P3 : Birth length less than 3rd percentile | 2.8% | 3/107 |
| Birth Weight abnormalities | 10.3% | 11/107 |
| < P3 : Small for gestational age | 10.3% | 11/107 |
| Birth Head circumference abnormalities | 4.7% | 5/106 |
| > P98 : Macrocephaly at birth | 1.9% | 2/106 |
| < P3 : Congenital microcephaly | 2.8% | 3/106 |
| Current Height abnormalities | 26.2% | 28/107 |
| < P3 : Short stature | 21.5% | 23/107 |
| > P98 : Tall stature | 4.7% | 5/107 |
| Current Weight abnormalities | 22.4% | 24/107 |
| < P3 : Decreased body weight | 16.8% | 18/107 |
| > P98 : Increased body weight | 5.6% | 6/107 |
| Current Head circumference abnormalities | 25.2% | 27/107 |
| > P98 : Macrocephaly | 14.0% | 15/107 |
| < P3 : Microcephaly | 11.2% | 12/107 |
| Neurology | ||
| Neurological abnormalities | 74.7% | 62/83 |
| Generalized hypotonia | 27.7% | 23/83 |
| Seizures | 19.3% | 16/83 |
| EEG abnormality | 8.4% | 7/83 |
| Febrile seizures | 7.2% | 6/83 |
| Central hypotonia | 6.0% | 5/83 |
| Gait disturbance | 6.0% | 5/83 |
| Generalized tonic-clonic seizures | 4.8% | 4/83 |
| Absence seizures | 3.6% | 3/83 |
| Focal seizures with impairment of consciousness or awareness | 3.6% | 3/83 |
| Gait ataxia | 3.6% | 3/83 |
| Generalized tonic seizures | 2.4% | 2/83 |
| Hyperreflexia | 2.4% | 2/83 |
| Neonatal hypotonia | 2.4% | 2/83 |
| Abnormality of pelvic girdle bone morphology | 1.2% | 1/83 |
| Abnormal nerve conduction velocity | 1.2% | 1/83 |
| Aganglionic megacolon | 1.2% | 1/83 |
| Arnold-Chiari malformation | 1.2% | 1/83 |
| Atypical absence seizures | 1.2% | 1/83 |
| Bilateral convulsive seizures | 1.2% | 1/83 |
| Delayed speech and language development | 1.2% | 1/83 |
| Epileptic encephalopathy | 1.2% | 1/83 |
| Focal seizures without impairment of consciousness or awareness | 1.2% | 1/83 |
| Focal seizures | 1.2% | 1/83 |
| Generalized myoclonic seizures | 1.2% | 1/83 |
| Generalized neonatal hypotonia | 1.2% | 1/83 |
| Generalized seizures | 1.2% | 1/83 |
| Global developmental delay | 1.2% | 1/83 |
| Hypertonia | 1.2% | 1/83 |
| Infantile spasms | 1.2% | 1/83 |
| Kyphoscoliosis | 1.2% | 1/83 |
| Lower limb asymmetry | 1.2% | 1/83 |
| Motor delay | 1.2% | 1/83 |
| Muscular hypotonia | 1.2% | 1/83 |
| Neurodevelopmental delay | 1.2% | 1/83 |
| Postural instability | 1.2% | 1/83 |
| Progressive neurologic deterioration | 1.2% | 1/83 |
| Stroke | 1.2% | 1/83 |
| Behavioral problems | 67.1% | 53/79 |
| Autistic behavior | 21.5% | 17/79 |
| Attention deficit hyperactivity disorder | 16.5% | 13/79 |
| Short attention span | 16.5% | 13/79 |
| Autism | 12.7% | 10/79 |
| Hyperactivity | 10.1% | 8/79 |
| Aggressive behavior | 8.9% | 7/79 |
| Behavioral abnormality | 6.3% | 5/79 |
| Pain insensitivity | 6.3% | 5/79 |
| Abnormal fear/anxiety-related behavior | 3.8% | 3/79 |
| Anxiety | 3.8% | 3/79 |
| Impaired social interactions | 3.8% | 3/79 |
| Impulsivity | 3.8% | 3/79 |
| Self-mutilation | 3.8% | 3/79 |
| Stereotypic behavior | 3.8% | 3/79 |
| Repetitive compulsive behavior | 2.5% | 2/79 |
| Sleep disturbance | 2.5% | 2/79 |
| Abnormal aggressive, impulsive or violent behavior | 1.3% | 1/79 |
| Contracture of the proximal interphalangeal joint of the 2nd finger | 1.3% | 1/79 |
| Emotional lability | 1.3% | 1/79 |
| Feeding difficulties in infancy | 1.3% | 1/79 |
| Impaired ability to form peer relationships | 1.3% | 1/79 |
| Inappropriate crying | 1.3% | 1/79 |
| Irritability | 1.3% | 1/79 |
| Mutism | 1.3% | 1/79 |
| Obsessive-compulsive behavior | 1.3% | 1/79 |
| Obsessive-compulsive trait | 1.3% | 1/79 |
| Phonophobia | 1.3% | 1/79 |
| Poor coordination | 1.3% | 1/79 |
| Restlessness | 1.3% | 1/79 |
| Restrictive behavior | 1.3% | 1/79 |
| Self-injurious behavior | 1.3% | 1/79 |
| Brain abnormality | 80.0% | 68/85 |
| Agenesis of corpus callosum | 25.9% | 22/85 |
| Dandy-Walker malformation | 10.6% | 9/85 |
| Hypoplasia of the corpus callosum | 10.6% | 9/85 |
| Ventriculomegaly | 10.6% | 9/85 |
| Delayed myelination | 7.1% | 6/85 |
| Cerebellar vermis hypoplasia | 5.9% | 5/85 |
| Enlarged cisterna magna | 5.9% | 5/85 |
| Hydrocephalus | 5.9% | 5/85 |
| Abnormality of the corpus callosum | 4.7% | 4/85 |
| Aplasia/Hypoplasia of the cerebellum | 4.7% | 4/85 |
| Partial agenesis of the corpus callosum | 4.7% | 4/85 |
| Cerebral atrophy | 3.5% | 3/85 |
| Cerebellar hypoplasia | 3.5% | 3/85 |
| Colpocephaly | 3.5% | 3/85 |
| Dysplastic corpus callosum | 3.5% | 3/85 |
| Heterotopia | 3.5% | 3/85 |
| Abnormality of the cerebral cortex | 2.4% | 2/85 |
| Abnormality of the cerebellum | 2.4% | 2/85 |
| Abnormality of the choroid plexus | 2.4% | 2/85 |
| Abnormality of the cerebrum | 2.4% | 2/85 |
| Arachnoid cyst | 2.4% | 2/85 |
| Arnold-Chiari malformation | 2.4% | 2/85 |
| Intracranial cystic lesion | 2.4% | 2/85 |
| Mild fetal ventriculomegaly | 2.4% | 2/85 |
| Perivascular spaces | 2.4% | 2/85 |
| Posterior fossa cyst | 2.4% | 2/85 |
| Widened subarachnoid space | 2.4% | 2/85 |
| Abnormality of the fourth ventricle | 1.2% | 1/85 |
| Abnormal cortical gyration | 1.2% | 1/85 |
| Abnormal length of corpus callosum | 1.2% | 1/85 |
| Abnormality of the dentate nucleus | 1.2% | 1/85 |
| Abnormality of the posterior cranial fossa | 1.2% | 1/85 |
| Abnormality of the pituitary gland | 1.2% | 1/85 |
| Abnormality of the cerebellar vermis | 1.2% | 1/85 |
| Abnormality of brainstem morphology | 1.2% | 1/85 |
| Abnormality of lateral ventricle | 1.2% | 1/85 |
| Absent septum pellucidum | 1.2% | 1/85 |
| Agenesis of the anterior commissure | 1.2% | 1/85 |
| Anterior pituitary hypoplasia | 1.2% | 1/85 |
| Aplasia/Hypoplasia of the cerebellar vermis | 1.2% | 1/85 |
| Aplasia/Hypoplasia of the corpus callosum | 1.2% | 1/85 |
| Atrophy/Degeneration affecting the cerebrum | 1.2% | 1/85 |
| Brachycephaly | 1.2% | 1/85 |
| Cerebral hypoplasia | 1.2% | 1/85 |
| Cerebral hemorrhage | 1.2% | 1/85 |
| Cerebral hamartomata | 1.2% | 1/85 |
| Cerebral hypomyelination | 1.2% | 1/85 |
| Cortical dysplasia | 1.2% | 1/85 |
| Dilated third ventricle | 1.2% | 1/85 |
| Ectopic posterior pituitary | 1.2% | 1/85 |
| Epidural hemorrhage | 1.2% | 1/85 |
| Gray matter heterotopias | 1.2% | 1/85 |
| Holoprosencephaly | 1.2% | 1/85 |
| Hyperostosis frontalis interna | 1.2% | 1/85 |
| Hypoplasia of the frontal lobes | 1.2% | 1/85 |
| Hypothalamic hamartoma | 1.2% | 1/85 |
| Limbic malformations | 1.2% | 1/85 |
| Morphological abnormality of the central nervous system | 1.2% | 1/85 |
| Periventricular gray matter heterotopia | 1.2% | 1/85 |
| Periventricular leukomalacia | 1.2% | 1/85 |
| Polyhydramnios | 1.2% | 1/85 |
| Severely dysplastic cerebellum | 1.2% | 1/85 |
| Short corpus callosum | 1.2% | 1/85 |
| Villous hypertrophy of choroid plexus | 1.2% | 1/85 |
| Facial abnormalities | ||
| Abnormality of the ear | 67.8% | 59/87 |
| Low-set ears | 23.0% | 20/87 |
| Abnormality of the pinna | 16.1% | 14/87 |
| Microtia | 8.0% | 7/87 |
| Posteriorly rotated ears | 8.0% | 7/87 |
| Low-set, posteriorly rotated ears | 6.9% | 6/87 |
| Microtia, third degree | 3.4% | 3/87 |
| Preauricular pit | 3.4% | 3/87 |
| Protruding ear | 3.4% | 3/87 |
| Abnormality of the helix | 2.3% | 2/87 |
| Anteverted ears | 2.3% | 2/87 |
| Cupped ear | 2.3% | 2/87 |
| Forward facing earlobe | 2.3% | 2/87 |
| Macrotia | 2.3% | 2/87 |
| Periauricular skin pits | 2.3% | 2/87 |
| Preauricular skin tag | 2.3% | 2/87 |
| Small earlobe | 2.3% | 2/87 |
| Abnormality of earlobe | 1.1% | 1/87 |
| Abnormality of the auditory canal | 1.1% | 1/87 |
| Abnormal location of ears | 1.1% | 1/87 |
| Anterior creases of earlobe | 1.1% | 1/87 |
| Aplasia/Hypoplasia of the earlobes | 1.1% | 1/87 |
| Aplasia/Hypoplasia of the tragus | 1.1% | 1/87 |
| Auricular pit | 1.1% | 1/87 |
| Cleft earlobe | 1.1% | 1/87 |
| Coarse facial features | 1.1% | 1/87 |
| External ear malformation | 1.1% | 1/87 |
| Frontal bossing | 1.1% | 1/87 |
| Large earlobe | 1.1% | 1/87 |
| Low posterior hairline | 1.1% | 1/87 |
| Overfolded helix | 1.1% | 1/87 |
| Pointed helix | 1.1% | 1/87 |
| Prominent antihelix | 1.1% | 1/87 |
| Sparse body hair | 1.1% | 1/87 |
| Telecanthus | 1.1% | 1/87 |
| Uplifted earlobe | 1.1% | 1/87 |
| Abnormality of the eye | 87.0% | 80/92 |
| Thick eyebrow | 34.8% | 32/92 |
| Long eyelashes | 33.7% | 31/92 |
| Hypertelorism | 31.5% | 29/92 |
| Ptosis | 16.3% | 15/92 |
| Downslanted palpebral fissures | 9.8% | 9/92 |
| Upslanted palpebral fissure | 9.8% | 9/92 |
| Deeply set eye | 6.5% | 6/92 |
| Highly arched eyebrow | 6.5% | 6/92 |
| Sparse eyebrow | 6.5% | 6/92 |
| Strabismus | 5.4% | 5/92 |
| Epicanthus | 4.3% | 4/92 |
| Long palpebral fissure | 3.3% | 3/92 |
| Synophrys | 3.3% | 3/92 |
| Blepharophimosis | 2.2% | 2/92 |
| Small palpebral fissure | 2.2% | 2/92 |
| Sparse lateral eyebrow | 2.2% | 2/92 |
| Abnormality of the periorbital region | 1.1% | 1/92 |
| Abnormality of the palpebral fissures | 1.1% | 1/92 |
| Abnormality of the eyelid | 1.1% | 1/92 |
| Abnormality of the philtrum | 1.1% | 1/92 |
| Abnormal size of the palpebral fissures | 1.1% | 1/92 |
| Abnormality of the lacrimal duct | 1.1% | 1/92 |
| Anterior segment dysgenesis | 1.1% | 1/92 |
| Anterior uveitis | 1.1% | 1/92 |
| Anteverted nares | 1.1% | 1/92 |
| Aplasia/Hypoplasia of the eyebrow | 1.1% | 1/92 |
| Bilateral ptosis | 1.1% | 1/92 |
| Broad eyebrow | 1.1% | 1/92 |
| Coloboma | 1.1% | 1/92 |
| Epibulbar dermoid | 1.1% | 1/92 |
| Exotropia | 1.1% | 1/92 |
| Hyperopic astigmatism | 1.1% | 1/92 |
| Iris atrophy | 1.1% | 1/92 |
| Long philtrum | 1.1% | 1/92 |
| Microphthalmia | 1.1% | 1/92 |
| Optic nerve coloboma | 1.1% | 1/92 |
| Palpebral edema | 1.1% | 1/92 |
| Palpebral fissure narrowing on adduction | 1.1% | 1/92 |
| Periorbital fullness | 1.1% | 1/92 |
| Retinal dysplasia | 1.1% | 1/92 |
| Short palpebral fissure | 1.1% | 1/92 |
| Sparse or absent eyelashes | 1.1% | 1/92 |
| Sparse eyelashes | 1.1% | 1/92 |
| Unilateral ptosis | 1.1% | 1/92 |
| Unilateral strabismus | 1.1% | 1/92 |
| Abnormality of the nose | 81.1% | 73/90 |
| Wide nasal bridge | 25.6% | 23/90 |
| Thick nasal alae | 22.2% | 20/90 |
| Anteverted nares | 21.1% | 19/90 |
| Broad nasal tip | 21.1% | 19/90 |
| Depressed nasal bridge | 21.1% | 19/90 |
| Wide nose | 16.7% | 15/90 |
| Short nose | 15.6% | 14/90 |
| Long philtrum | 14.4% | 13/90 |
| Bulbous nose | 10.0% | 9/90 |
| Short philtrum | 10.0% | 9/90 |
| Broad philtrum | 6.7% | 6/90 |
| Prominent nasal bridge | 5.6% | 5/90 |
| Low hanging columella | 4.4% | 4/90 |
| Smooth philtrum | 3.3% | 3/90 |
| Wide nasal base | 3.3% | 3/90 |
| Abnormality of the nasal tip | 2.2% | 2/90 |
| Abnormality of the nasal alae | 2.2% | 2/90 |
| Depressed nasal tip | 2.2% | 2/90 |
| Epicanthus | 2.2% | 2/90 |
| Long nose | 2.2% | 2/90 |
| Absent nasal bridge | 1.1% | 1/90 |
| Choanal stenosis | 1.1% | 1/90 |
| Cleft palate | 1.1% | 1/90 |
| Narrow nasal bridge | 1.1% | 1/90 |
| Abnormality of the mouth | 84.8% | 78/92 |
| Thick lower lip vermilion | 47.8% | 44/92 |
| Wide mouth | 34.8% | 32/92 |
| Thick upper lip vermilion | 28.3% | 26/92 |
| High palate | 16.3% | 15/92 |
| Thin upper lip vermilion | 13.0% | 12/92 |
| Retrognathia | 10.9% | 10/92 |
| Everted lower lip vermilion | 9.8% | 9/92 |
| Micrognathia | 7.6% | 7/92 |
| Coarse facial features | 4.3% | 4/92 |
| Long philtrum | 4.3% | 4/92 |
| Macroglossia | 4.3% | 4/92 |
| Absent speech | 3.3% | 3/92 |
| Cleft palate | 3.3% | 3/92 |
| Downturned corners of mouth | 3.3% | 3/92 |
| Thin lower lip vermilion | 3.3% | 3/92 |
| Broad philtrum | 2.2% | 2/92 |
| Everted upper lip vermilion | 2.2% | 2/92 |
| Nasogastric tube feeding in infancy | 2.2% | 2/92 |
| Thick vermilion border | 2.2% | 2/92 |
| Abnormal lung lobation | 1.1% | 1/92 |
| Abnormality of upper lip | 1.1% | 1/92 |
| Abnormality of lower lip | 1.1% | 1/92 |
| Ankyloglossia | 1.1% | 1/92 |
| Delayed eruption of teeth | 1.1% | 1/92 |
| Dental malocclusion | 1.1% | 1/92 |
| Feeding difficulties in infancy | 1.1% | 1/92 |
| Feeding difficulties | 1.1% | 1/92 |
| Gastrostomy tube feeding in infancy | 1.1% | 1/92 |
| Hypomimic face | 1.1% | 1/92 |
| Hypoplasia of the maxilla | 1.1% | 1/92 |
| Long face | 1.1% | 1/92 |
| Microretrognathia | 1.1% | 1/92 |
| Misalignment of teeth | 1.1% | 1/92 |
| Narrow palate | 1.1% | 1/92 |
| Open mouth | 1.1% | 1/92 |
| Pierre-Robin sequence | 1.1% | 1/92 |
| Poor suck | 1.1% | 1/92 |
| Premature loss of teeth | 1.1% | 1/92 |
| Protruding tongue | 1.1% | 1/92 |
| Short chin | 1.1% | 1/92 |
| Short philtrum | 1.1% | 1/92 |
| Short lingual frenulum | 1.1% | 1/92 |
| Smooth philtrum | 1.1% | 1/92 |
| Visual and hearing impairments | ||
| Abnormal hearing | 46.7% | 35/75 |
| Glue ear | 14.7% | 11/75 |
| Conductive hearing impairment | 10.7% | 8/75 |
| Hearing impairment | 8.0% | 6/75 |
| Stenosis of the external auditory canal | 5.3% | 4/75 |
| Abnormality of the auditory canal | 4.0% | 3/75 |
| Cholesteatoma | 4.0% | 3/75 |
| Mild hearing impairment | 4.0% | 3/75 |
| Atresia of the external auditory canal | 2.7% | 2/75 |
| Morphological abnormality of the middle ear | 2.7% | 2/75 |
| Narrow internal auditory canal | 2.7% | 2/75 |
| Sensorineural hearing impairment | 2.7% | 2/75 |
| Unilateral deafness | 2.7% | 2/75 |
| Abnormality of the middle ear | 1.3% | 1/75 |
| Aplasia/Hypoplasia of the middle ear | 1.3% | 1/75 |
| Bilateral sensorineural hearing impairment | 1.3% | 1/75 |
| Childhood onset sensorineural hearing impairment | 1.3% | 1/75 |
| Chronic otitis media | 1.3% | 1/75 |
| Excessive cerumen | 1.3% | 1/75 |
| Functional abnormality of the middle ear | 1.3% | 1/75 |
| Mid-frequency hearing loss | 1.3% | 1/75 |
| Mild conductive hearing impairment | 1.3% | 1/75 |
| Moderate sensorineural hearing impairment | 1.3% | 1/75 |
| Morphological abnormality of the inner ear | 1.3% | 1/75 |
| Recurrent otitis media | 1.3% | 1/75 |
| Unilateral conductive hearing impairment | 1.3% | 1/75 |
| Abnormal vision | 65.8% | 52/79 |
| Strabismus | 24.1% | 19/79 |
| Myopia | 15.2% | 12/79 |
| Esotropia | 11.4% | 9/79 |
| Hypermetropia | 8.9% | 7/79 |
| Astigmatism | 7.6% | 6/79 |
| Amblyopia | 5.1% | 4/79 |
| Cortical visual impairment | 3.8% | 3/79 |
| Exotropia | 3.8% | 3/79 |
| Nystagmus | 3.8% | 3/79 |
| Severe Myopia | 3.8% | 3/79 |
| Visual impairment | 3.8% | 3/79 |
| High-grade hypermetropia | 2.5% | 2/79 |
| Hyperopic astigmatism | 2.5% | 2/79 |
| Retinopathy | 2.5% | 2/79 |
| Abnormality of the choroid | 1.3% | 1/79 |
| Abnormality of the eye | 1.3% | 1/79 |
| Abnormality of the macula | 1.3% | 1/79 |
| Abnormality of vision | 1.3% | 1/79 |
| Anterior segment dysgenesis | 1.3% | 1/79 |
| Cataract | 1.3% | 1/79 |
| Coloboma | 1.3% | 1/79 |
| Congenital horizontal nystagmus | 1.3% | 1/79 |
| Glaucoma | 1.3% | 1/79 |
| Optic nerve coloboma | 1.3% | 1/79 |
| Optic nerve hypoplasia | 1.3% | 1/79 |
| Retinal dysplasia | 1.3% | 1/79 |
| Self-mutilation | 1.3% | 1/79 |
| Unilateral strabismus | 1.3% | 1/79 |
| Heart | ||
| Abnormality of the heart | 48.9% | 46/94 |
| Ventricular septal defect | 12.8% | 12/94 |
| Patent foramen ovale | 8.5% | 8/94 |
| Atria septal defect | 7.4% | 7/94 |
| Patent ductus arteriosus | 7.4% | 7/94 |
| Coarctation of aorta | 5.3% | 5/94 |
| Persistent left superior vena cava | 5.3% | 5/94 |
| Secundum atrial septal defect | 5.3% | 5/94 |
| Abnormality of the vena cava | 4.3% | 4/94 |
| Abnormality of the atrial septum | 3.2% | 3/94 |
| Abnormal heart morphology | 3.2% | 3/94 |
| Abnormality of the mitral valve | 3.2% | 3/94 |
| Hypoplastic aortic arch | 3.2% | 3/94 |
| Perimembranous ventricular septal defect | 3.2% | 3/94 |
| Pulmonary hypertension | 3.2% | 3/94 |
| Right ventricular dilatation | 3.2% | 3/94 |
| Abnormality of the right ventricle | 2.1% | 2/94 |
| Abnormality of the aorta | 2.1% | 2/94 |
| Atrial flutter | 2.1% | 2/94 |
| Bicuspid aortic valve | 2.1% | 2/94 |
| Double outlet right ventricle | 2.1% | 2/94 |
| Hypoplastic left heart | 2.1% | 2/94 |
| Abnormality of the ventricular septum | 1.1% | 1/94 |
| Abnormality of the aortic arch | 1.1% | 1/94 |
| Abnormal ventriculo-arterial connection | 1.1% | 1/94 |
| Anomalous muscle bundle of the right ventricle | 1.1% | 1/94 |
| Aortic root dilatation | 1.1% | 1/94 |
| Aortic valve stenosis | 1.1% | 1/94 |
| Aortic dilatation | 1.1% | 1/94 |
| Atrioventricular block | 1.1% | 1/94 |
| Bilateral superior vena cava with bridging vein | 1.1% | 1/94 |
| Cardiogenic shock | 1.1% | 1/94 |
| Complete atrioventricular canal defect | 1.1% | 1/94 |
| Congenital malformation of the right heart | 1.1% | 1/94 |
| Dextrocardia | 1.1% | 1/94 |
| Hypertrophic cardiomyopathy | 1.1% | 1/94 |
| Imperforate atrioventricular valve | 1.1% | 1/94 |
| Left-to-right shunt | 1.1% | 1/94 |
| Left superior vena cava draining to coronary sinus | 1.1% | 1/94 |
| Mitral valve prolapse | 1.1% | 1/94 |
| Partial anomalous pulmonary venous return | 1.1% | 1/94 |
| Partial atrioventricular canal defect | 1.1% | 1/94 |
| Patent ductus arteriosus after birth at term | 1.1% | 1/94 |
| Pericardial effusion | 1.1% | 1/94 |
| Postductal coarctation of the aorta | 1.1% | 1/94 |
| Primary atrial arrhythmia | 1.1% | 1/94 |
| Pulmonary valve defects | 1.1% | 1/94 |
| Pulmonic stenosis | 1.1% | 1/94 |
| Right atrial enlargement | 1.1% | 1/94 |
| Right ventricular hypertrophy | 1.1% | 1/94 |
| Tetralogy of Fallot | 1.1% | 1/94 |
| Transposition of the great arteries | 1.1% | 1/94 |
| Vascular ring | 1.1% | 1/94 |
| Ventricular preexcitation | 1.1% | 1/94 |
| Wolff-Parkinson-White syndrome | 1.1% | 1/94 |
| Pulmonary | ||
| Abnormality of the lungs | 51.9% | 27/52 |
| Neonatal respiratory distress | 25.0% | 13/52 |
| Laryngomalacia | 13.5% | 7/52 |
| Recurrent respiratory infections | 13.5% | 7/52 |
| Pulmonary hypertension | 5.8% | 3/52 |
| Asthma | 3.8% | 2/52 |
| Abnormality of the respiratory system | 1.9% | 1/52 |
| Abnormality of the vocal cords | 1.9% | 1/52 |
| Allergic rhinitis | 1.9% | 1/52 |
| Chronic lung disease | 1.9% | 1/52 |
| Recurrent upper respiratory tract infections | 1.9% | 1/52 |
| Respiratory distress | 1.9% | 1/52 |
| Respiratory failure | 1.9% | 1/52 |
| Respiratory insufficiency | 1.9% | 1/52 |
| Spontaneous neonatal pneumothorax | 1.9% | 1/52 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 72.8% | 67/92 |
| Feeding difficulties in infancy | 20.7% | 19/92 |
| Gastroesophageal reflux | 16.3% | 15/92 |
| Feeding difficulties | 15.2% | 14/92 |
| Nasogastric tube feeding in infancy | 15.2% | 14/92 |
| Gastrostomy tube feeding in infancy | 13.0% | 12/92 |
| Constipation | 12.0% | 11/92 |
| Failure to thrive in infancy | 6.5% | 6/92 |
| Episodic vomiting | 5.4% | 5/92 |
| Chronic constipation | 4.3% | 4/92 |
| Poor suck | 4.3% | 4/92 |
| Anal atresia | 3.3% | 3/92 |
| Congenital diaphragmatic hernia | 3.3% | 3/92 |
| Abdominal distention | 2.2% | 2/92 |
| Fatigable weakness of swallowing muscles | 2.2% | 2/92 |
| Inguinal hernia | 2.2% | 2/92 |
| Pyloric stenosis | 2.2% | 2/92 |
| Abnormal eating behavior | 1.1% | 1/92 |
| Absent gallbladder | 1.1% | 1/92 |
| Aganglionic megacolon | 1.1% | 1/92 |
| Agenesis of the diaphragm | 1.1% | 1/92 |
| Anal stenosis | 1.1% | 1/92 |
| Anorectal anomaly | 1.1% | 1/92 |
| Anteriorly placed anus | 1.1% | 1/92 |
| Congenital pyloric atresia | 1.1% | 1/92 |
| Crohn's disease | 1.1% | 1/92 |
| Elevated hepatic transaminases | 1.1% | 1/92 |
| Functional abnormality of the gastrointestinal tract | 1.1% | 1/92 |
| Gastritis | 1.1% | 1/92 |
| Ileal atresia | 1.1% | 1/92 |
| Intestinal obstruction | 1.1% | 1/92 |
| Malnutrition | 1.1% | 1/92 |
| Polysplenia | 1.1% | 1/92 |
| Protuberant abdomen | 1.1% | 1/92 |
| Single umbilical artery | 1.1% | 1/92 |
| Urethral fistula | 1.1% | 1/92 |
| Urogenital | ||
| Abnormality of the urogenital system | 38.7% | 36/93 |
| Bilateral cryptorchidism | 4.3% | 4/93 |
| Hydronephrosis | 3.2% | 3/93 |
| Unilateral cryptorchidism | 3.2% | 3/93 |
| Abnormality of the uterus | 2.2% | 2/93 |
| Bifid ureter | 2.2% | 2/93 |
| Hypoplasia of the uterus | 2.2% | 2/93 |
| Hypospadias | 2.2% | 2/93 |
| Multiple renal cysts | 2.2% | 2/93 |
| Renal hypoplasia | 2.2% | 2/93 |
| Ureter duplex | 2.2% | 2/93 |
| Uterus didelphys | 2.2% | 2/93 |
| Abnormality of the kidney | 1.1% | 1/93 |
| Abnormality of the anus | 1.1% | 1/93 |
| Abnormality of the renal pelvis | 1.1% | 1/93 |
| Abnormality of the mesentery | 1.1% | 1/93 |
| Acute kidney injury | 1.1% | 1/93 |
| Anal atresia | 1.1% | 1/93 |
| Anteriorly placed anus | 1.1% | 1/93 |
| Congenital megaureter | 1.1% | 1/93 |
| Cryptorchidism | 1.1% | 1/93 |
| Dilatation of the renal pelvis | 1.1% | 1/93 |
| Duplicated collecting system | 1.1% | 1/93 |
| Ectopic kidney | 1.1% | 1/93 |
| Horseshoe kidney | 1.1% | 1/93 |
| Hyperplastic labia majora | 1.1% | 1/93 |
| Hypoplastic labia majora | 1.1% | 1/93 |
| Inguinal hernia | 1.1% | 1/93 |
| Megacalicosis | 1.1% | 1/93 |
| Multiple bladder diverticula | 1.1% | 1/93 |
| Nephrolithiasis | 1.1% | 1/93 |
| Paraphimosis | 1.1% | 1/93 |
| Pelvic kidney | 1.1% | 1/93 |
| Pyelonephritis | 1.1% | 1/93 |
| Recurrent urinary tract infections | 1.1% | 1/93 |
| Renal malrotation | 1.1% | 1/93 |
| Unilateral renal agenesis | 1.1% | 1/93 |
| Unilateral renal dysplasia | 1.1% | 1/93 |
| Ureteropelvic junction obstruction | 1.1% | 1/93 |
| Ureteral duplication | 1.1% | 1/93 |
| Skeleton | ||
| Skeletal abnormalities | 87.8% | 86/98 |
| Joint laxity | 20.4% | 20/98 |
| Pes planus | 19.4% | 19/98 |
| Scoliosis | 18.4% | 18/98 |
| Short 5th finger | 14.3% | 14/98 |
| Clinodactyly of the 5th finger | 10.2% | 10/98 |
| Short stature | 8.2% | 8/98 |
| Short distal phalanx of the 5th finger | 8.2% | 8/98 |
| Delayed eruption of permanent teeth | 6.1% | 6/98 |
| Delayed eruption of teeth | 6.1% | 6/98 |
| Dental crowding | 6.1% | 6/98 |
| Sandal gap | 6.1% | 6/98 |
| Broad thumb | 5.1% | 5/98 |
| Widely spaced teeth | 5.1% | 5/98 |
| Broad hallux | 4.1% | 4/98 |
| Camptodactyly | 4.1% | 4/98 |
| Delayed eruption of primary teeth | 4.1% | 4/98 |
| Growth delay | 4.1% | 4/98 |
| Irregular dentition | 4.1% | 4/98 |
| Kyphoscoliosis | 4.1% | 4/98 |
| Macrocephaly | 4.1% | 4/98 |
| Pectus excavatum | 4.1% | 4/98 |
| Short middle phalanx of the 5th finger | 4.1% | 4/98 |
| Dental malocclusion | 3.1% | 3/98 |
| Muscle weakness | 3.1% | 3/98 |
| Plagiocephaly | 3.1% | 3/98 |
| Prominent interphalangeal joints | 3.1% | 3/98 |
| Sacral dimple | 3.1% | 3/98 |
| Short 5th toe | 3.1% | 3/98 |
| Short finger | 3.1% | 3/98 |
| Short distal phalanx of the 5th toe | 3.1% | 3/98 |
| Abnormality of the foot | 2.0% | 2/98 |
| Abnormality of the ribs | 2.0% | 2/98 |
| Abnormality of the teeth | 2.0% | 2/98 |
| Abnormality of the lumbar spine | 2.0% | 2/98 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 2.0% | 2/98 |
| Clinodactyly | 2.0% | 2/98 |
| Curved hallux phalanx | 2.0% | 2/98 |
| Dolichocephaly | 2.0% | 2/98 |
| Frontal bossing | 2.0% | 2/98 |
| Genu recurvatum | 2.0% | 2/98 |
| Genu valgum | 2.0% | 2/98 |
| Hallux valgus | 2.0% | 2/98 |
| Hip dysplasia | 2.0% | 2/98 |
| Hyperlordosis | 2.0% | 2/98 |
| Long fingers | 2.0% | 2/98 |
| Long hallux | 2.0% | 2/98 |
| Misalignment of teeth | 2.0% | 2/98 |
| Short distal phalanx of finger | 2.0% | 2/98 |
| Supernumerary ribs | 2.0% | 2/98 |
| Talipes equinovarus | 2.0% | 2/98 |
| Abnormality of the skeletal system | 1.0% | 1/98 |
| Abnormality of the sternum | 1.0% | 1/98 |
| Abnormality of multiple cell lineages in the bone marrow | 1.0% | 1/98 |
| Abnormality of the 5th finger | 1.0% | 1/98 |
| Abnormality of the thoracic spine | 1.0% | 1/98 |
| Abnormality of digit | 1.0% | 1/98 |
| Abnormality of the femur | 1.0% | 1/98 |
| Abnormality of the vertebral column | 1.0% | 1/98 |
| Abnormality of the 3rd finger | 1.0% | 1/98 |
| Abnormality of the thumb | 1.0% | 1/98 |
| Abnormality of cranial sutures | 1.0% | 1/98 |
| Abnormality of mandibular ramus | 1.0% | 1/98 |
| Abnormality of the 4th toe | 1.0% | 1/98 |
| Abnormal vertebral segmentation and fusion | 1.0% | 1/98 |
| Abnormality of the cervical spine | 1.0% | 1/98 |
| Aplasia/Hypoplasia of the mandible | 1.0% | 1/98 |
| Aplasia/Hypoplasia of the middle phalanx of the 5th finger | 1.0% | 1/98 |
| Aplasia of the distal phalanx of the 5th toe | 1.0% | 1/98 |
| Aplasia of the distal phalanx of the 5th finger | 1.0% | 1/98 |
| Aplasia/Hypoplasia of the middle phalanx of the 5th toe | 1.0% | 1/98 |
| Aplastic anemia | 1.0% | 1/98 |
| Arthrogryposis multiplex congenita | 1.0% | 1/98 |
| Bilateral camptodactyly | 1.0% | 1/98 |
| Bilateral choanal atresia | 1.0% | 1/98 |
| Brachytelomesophalangy | 1.0% | 1/98 |
| Brachycephaly | 1.0% | 1/98 |
| Broad toe | 1.0% | 1/98 |
| Broad distal phalanx of finger | 1.0% | 1/98 |
| Broad distal hallux | 1.0% | 1/98 |
| Broad distal phalanx of the thumb | 1.0% | 1/98 |
| Broad distal phalanx of the toes | 1.0% | 1/98 |
| Broad 1st metacarpal | 1.0% | 1/98 |
| Bruxism | 1.0% | 1/98 |
| Butterfly vertebrae | 1.0% | 1/98 |
| Calf muscle hypoplasia | 1.0% | 1/98 |
| Cervical vertebral fusion (C2/C3) | 1.0% | 1/98 |
| Clinodactyly of the 2nd toe | 1.0% | 1/98 |
| Clinodactyly of the 4th toe | 1.0% | 1/98 |
| Clinodactyly of the 3rd toe | 1.0% | 1/98 |
| Compensatory scoliosis | 1.0% | 1/98 |
| Contracture of the proximal interphalangeal joint of the 2nd finger | 1.0% | 1/98 |
| Coronal craniosynostosis | 1.0% | 1/98 |
| Craniosynostosis | 1.0% | 1/98 |
| Curved phalanges of the 5th finger | 1.0% | 1/98 |
| Delayed skeletal maturation | 1.0% | 1/98 |
| Deviation of the 5th toe | 1.0% | 1/98 |
| Dysharmonic bone age | 1.0% | 1/98 |
| Dysplastic sacrum | 1.0% | 1/98 |
| Dystonia | 1.0% | 1/98 |
| Enlarged interphalangeal joints | 1.0% | 1/98 |
| Equinus calcaneus | 1.0% | 1/98 |
| Failure to thrive in infancy | 1.0% | 1/98 |
| Fetal fifth finger clinodactyly | 1.0% | 1/98 |
| Finger clinodactyly | 1.0% | 1/98 |
| Hand polydactyly | 1.0% | 1/98 |
| High palate | 1.0% | 1/98 |
| Hypertrichosis | 1.0% | 1/98 |
| Inguinal hernia | 1.0% | 1/98 |
| Kyphosis | 1.0% | 1/98 |
| Limb dysmetria | 1.0% | 1/98 |
| Lower limb amyotrophy | 1.0% | 1/98 |
| Lumbar hyperlordosis | 1.0% | 1/98 |
| Lumbar kyphoscoliosis | 1.0% | 1/98 |
| Medial deviation of the foot | 1.0% | 1/98 |
| Metopic synostosis | 1.0% | 1/98 |
| Microcephaly | 1.0% | 1/98 |
| Multiple joint contractures | 1.0% | 1/98 |
| Narrow internal auditory canal | 1.0% | 1/98 |
| Narrow foot | 1.0% | 1/98 |
| Narrow forehead | 1.0% | 1/98 |
| Oligodontia | 1.0% | 1/98 |
| Overlapping toe | 1.0% | 1/98 |
| Pain insensitivity | 1.0% | 1/98 |
| Patellar dislocation | 1.0% | 1/98 |
| Pectus excavatum of inferior sternum | 1.0% | 1/98 |
| Pes cavus | 1.0% | 1/98 |
| Pierre-Robin sequence | 1.0% | 1/98 |
| Polyarticular arthritis | 1.0% | 1/98 |
| Proximal placement of thumb | 1.0% | 1/98 |
| Recurrent patellar dislocation | 1.0% | 1/98 |
| Rocker bottom foot | 1.0% | 1/98 |
| Scapular winging | 1.0% | 1/98 |
| Short neck | 1.0% | 1/98 |
| Short metacarpal | 1.0% | 1/98 |
| Short middle phalanx of the 5th toe | 1.0% | 1/98 |
| Short femur | 1.0% | 1/98 |
| Short middle phalanx of finger | 1.0% | 1/98 |
| Short metatarsal | 1.0% | 1/98 |
| Short 2nd toe | 1.0% | 1/98 |
| Short thumb | 1.0% | 1/98 |
| Shortening of all distal phalanges of the fingers | 1.0% | 1/98 |
| Short 4th toe | 1.0% | 1/98 |
| Short fourth metatarsal | 1.0% | 1/98 |
| Short 4th finger | 1.0% | 1/98 |
| Short toe | 1.0% | 1/98 |
| Spondylolysis | 1.0% | 1/98 |
| Supernumerary vertebrae | 1.0% | 1/98 |
| Talipes | 1.0% | 1/98 |
| Talipes calcaneovalgus | 1.0% | 1/98 |
| Tapered finger | 1.0% | 1/98 |
| Thoracolumbar kyphoscoliosis | 1.0% | 1/98 |
| Thoracic hemivertebrae | 1.0% | 1/98 |
| Toe clinodactyly | 1.0% | 1/98 |
| Trigonocephaly | 1.0% | 1/98 |
| Wide intermamillary distance | 1.0% | 1/98 |
| 4-5 finger syndactyly | 1.0% | 1/98 |
| 2-3 finger syndactyly | 1.0% | 1/98 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 76.1% | 70/92 |
| Hypertrichosis | 14.1% | 13/92 |
| Hypoplastic fifth toenail | 10.9% | 10/92 |
| Low anterior hairline | 9.8% | 9/92 |
| Prominent fingertip pads | 9.8% | 9/92 |
| Small nail | 9.8% | 9/92 |
| Thick hair | 9.8% | 9/92 |
| Sparse scalp hair | 8.7% | 8/92 |
| Hypoplastic fifth fingernail | 7.6% | 7/92 |
| Aplasia/Hypoplasia of the nails | 4.3% | 4/92 |
| Facial hypertrichosis | 4.3% | 4/92 |
| Hypoplastic toenails | 4.3% | 4/92 |
| Coarse hair | 3.3% | 3/92 |
| Fingernail dysplasia | 3.3% | 3/92 |
| Hypoplastic fingernail | 3.3% | 3/92 |
| Striae distensae | 3.3% | 3/92 |
| Abnormality of the nail | 2.2% | 2/92 |
| Absent fifth fingernail | 2.2% | 2/92 |
| Atypical scarring of skin | 2.2% | 2/92 |
| Dry skin | 2.2% | 2/92 |
| Fine hair | 2.2% | 2/92 |
| Generalized hypertrichosis | 2.2% | 2/92 |
| Hyperpigmentation of the skin | 2.2% | 2/92 |
| Hypopigmentation of the skin | 2.2% | 2/92 |
| Psoriasis | 2.2% | 2/92 |
| Single transverse palmar crease | 2.2% | 2/92 |
| Abnormality of hair growth rate | 1.1% | 1/92 |
| Abnormal hair quantity | 1.1% | 1/92 |
| Abnormality of the distal phalanges of the toes | 1.1% | 1/92 |
| Abnormality of the scalp hair | 1.1% | 1/92 |
| Abnormality of the fingernails | 1.1% | 1/92 |
| Abnormal hair whorl | 1.1% | 1/92 |
| Absent fifth toenail | 1.1% | 1/92 |
| Absent fingernail | 1.1% | 1/92 |
| Absent toenail | 1.1% | 1/92 |
| Atopic dermatitis | 1.1% | 1/92 |
| Brachydactyly syndrome | 1.1% | 1/92 |
| Cafe-au-lait spot | 1.1% | 1/92 |
| Deep palmar crease | 1.1% | 1/92 |
| Deep-set nails | 1.1% | 1/92 |
| Dystrophic toenail | 1.1% | 1/92 |
| Eczema | 1.1% | 1/92 |
| Elbow hypertrichosis | 1.1% | 1/92 |
| Erythroderma | 1.1% | 1/92 |
| Extension of hair growth on temples to lateral eyebrow | 1.1% | 1/92 |
| Frontal bossing | 1.1% | 1/92 |
| Growth delay | 1.1% | 1/92 |
| Hallux valgus | 1.1% | 1/92 |
| Hemangioma | 1.1% | 1/92 |
| Keloids | 1.1% | 1/92 |
| Long eyelashes | 1.1% | 1/92 |
| Low posterior hairline | 1.1% | 1/92 |
| Lumbar hypertrichosis | 1.1% | 1/92 |
| Lumbosacral hirsutism | 1.1% | 1/92 |
| Osteopenia | 1.1% | 1/92 |
| Overlapping fingers | 1.1% | 1/92 |
| Polyarticular arthritis | 1.1% | 1/92 |
| Retrognathia | 1.1% | 1/92 |
| Sacral dimple | 1.1% | 1/92 |
| Scoliosis | 1.1% | 1/92 |
| Short neck | 1.1% | 1/92 |
| Short nail | 1.1% | 1/92 |
| Slow-growing nails | 1.1% | 1/92 |
| Slow-growing scalp hair | 1.1% | 1/92 |
| Sparse hair | 1.1% | 1/92 |
| Sparse anterior scalp hair | 1.1% | 1/92 |
| Spatulate thumbs | 1.1% | 1/92 |
| Synophrys | 1.1% | 1/92 |
| Thick nail | 1.1% | 1/92 |
| Thin nail | 1.1% | 1/92 |
| Thin fingernail | 1.1% | 1/92 |
| Vascular skin abnormality | 1.1% | 1/92 |
| Webbed neck | 1.1% | 1/92 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 18.1% | 13/72 |
| Delayed puberty | 5.6% | 4/72 |
| Hashimoto thyroiditis | 2.8% | 2/72 |
| Hypothyroidism | 2.8% | 2/72 |
| Premature ovarian failure | 2.8% | 2/72 |
| Abnormality of thyroid physiology | 1.4% | 1/72 |
| Central hypothyroidism | 1.4% | 1/72 |
| Compensated hypothyroidism | 1.4% | 1/72 |
| Growth hormone deficiency | 1.4% | 1/72 |
| Type II diabetes mellitus | 1.4% | 1/72 |
| Abnormality of the metabolic system | 2.6% | 2/78 |
| Abnormal levels of alpha-fetoprotein | 1.3% | 1/78 |
| Hypothyroidism | 1.3% | 1/78 |
| Abnormality of the immune system | 17.5% | 14/80 |
| Recurrent respiratory infections | 5.0% | 4/80 |
| Recurrent infections | 5.0% | 4/80 |
| Abnormal bleeding | 1.3% | 1/80 |
| Allergic rhinitis | 1.3% | 1/80 |
| Allergy | 1.3% | 1/80 |
| Aplastic anemia | 1.3% | 1/80 |
| IgA deficiency | 1.3% | 1/80 |
| IgM deficiency | 1.3% | 1/80 |
| Immunoglobulin IgG2 deficiency | 1.3% | 1/80 |
| Nasogastric tube feeding in infancy | 1.3% | 1/80 |
| Neonatal asphyxia | 1.3% | 1/80 |
| Partial IgA deficiency | 1.3% | 1/80 |
| Platelet antibody positive | 1.3% | 1/80 |
| Recurrent bacterial infections | 1.3% | 1/80 |
| Recurrent otitis media | 1.3% | 1/80 |
| Recurrent infections of the middle ear | 1.3% | 1/80 |
| Respiratory infections in early life | 1.3% | 1/80 |
| Thrombocytopenia | 1.3% | 1/80 |
| Neoplasia | ||
| Neoplasia | 6.7% | 7/104 |
| Hepatoblastoma | 2.9% | 3/104 |
| Cholesteatoma | 1.9% | 2/104 |
| Acute lymphoblastic leukemia | 1.0% | 1/104 |
| Neuroblastoma | 1.0% | 1/104 |