ANKRD11
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 56.1% | 83/148 |
| Female | 43.9% | 65/148 |
| Indifferent | 0% | 0/148 |
| Unknown | 0% | 0/148 |
| General | ||
| Birth Length abnormalities | 11.5% | 18/157 |
| < P3 : Birth length less than 3rd percentile | 10.2% | 16/157 |
| > P98 : Birth length greater than 97th percentile | 1.3% | 2/157 |
| Birth Weight abnormalities | 17.3% | 28/162 |
| > P98 : Large for gestational age | 0.6% | 1/162 |
| < P3 : Small for gestational age | 16.7% | 27/162 |
| Birth Head circumference abnormalities | 8.9% | 14/157 |
| < P3 : Congenital microcephaly | 7.6% | 12/157 |
| > P98 : Macrocephaly at birth | 1.3% | 2/157 |
| Current Height abnormalities | 42.5% | 71/167 |
| < P3 : Short stature | 40.7% | 68/167 |
| > P98 : Tall stature | 1.8% | 3/167 |
| Current Weight abnormalities | 20.6% | 33/160 |
| > P98 : Increased body weight | 6.3% | 10/160 |
| < P3 : Decreased body weight | 14.4% | 23/160 |
| Current Head circumference abnormalities | 14.2% | 23/162 |
| < P3 : Microcephaly | 12.3% | 20/162 |
| > P98 : Macrocephaly | 1.9% | 3/162 |
| Neurology | ||
| Neurological abnormalities | 51.1% | 69/135 |
| Seizures | 14.1% | 19/135 |
| Global developmental delay | 10.4% | 14/135 |
| Generalized hypotonia | 8.9% | 12/135 |
| Generalized tonic-clonic seizures | 8.1% | 11/135 |
| Poor coordination | 8.1% | 11/135 |
| Absence seizures | 6.7% | 9/135 |
| Mild global developmental delay | 4.4% | 6/135 |
| Delayed speech and language development | 3.7% | 5/135 |
| Focal seizures | 3.7% | 5/135 |
| Febrile seizures | 3.0% | 4/135 |
| Generalized seizures | 3.0% | 4/135 |
| Migraine | 3.0% | 4/135 |
| Motor delay | 3.0% | 4/135 |
| Pain insensitivity | 3.0% | 4/135 |
| Delayed gross motor development | 2.2% | 3/135 |
| Gait imbalance | 2.2% | 3/135 |
| Generalized myoclonic seizures | 2.2% | 3/135 |
| Memory impairment | 2.2% | 3/135 |
| Migraine with aura | 2.2% | 3/135 |
| Poor fine motor coordination | 2.2% | 3/135 |
| Ataxia | 1.5% | 2/135 |
| Atonic seizures | 1.5% | 2/135 |
| Cerebral palsy | 1.5% | 2/135 |
| Delayed fine motor development | 1.5% | 2/135 |
| Dysarthria | 1.5% | 2/135 |
| Dyslexia | 1.5% | 2/135 |
| Expressive language delay | 1.5% | 2/135 |
| Gait disturbance | 1.5% | 2/135 |
| Generalized neonatal hypotonia | 1.5% | 2/135 |
| Generalized tonic seizures | 1.5% | 2/135 |
| Hand tremor | 1.5% | 2/135 |
| Impaired pain sensation | 1.5% | 2/135 |
| Intellectual disability, mild | 1.5% | 2/135 |
| Intellectual disability | 1.5% | 2/135 |
| Muscular hypotonia | 1.5% | 2/135 |
| Syncope | 1.5% | 2/135 |
| Unilateral strabismus | 1.5% | 2/135 |
| Vertigo | 1.5% | 2/135 |
| Abnormality of the temporomandibular joint | 0.7% | 1/135 |
| Abnormality of the vestibular nerve | 0.7% | 1/135 |
| Abnormality of fontanelles | 0.7% | 1/135 |
| Abnormality of pain sensation | 0.7% | 1/135 |
| Abnormal muscle tone | 0.7% | 1/135 |
| Absent speech | 0.7% | 1/135 |
| Anterior pituitary hypoplasia | 0.7% | 1/135 |
| Anxiety | 0.7% | 1/135 |
| Attention deficit hyperactivity disorder | 0.7% | 1/135 |
| Brain atrophy | 0.7% | 1/135 |
| Broad-based gait | 0.7% | 1/135 |
| Central hypotonia | 0.7% | 1/135 |
| Central apnea | 0.7% | 1/135 |
| Delayed closure of the anterior fontanelle | 0.7% | 1/135 |
| Delayed social development | 0.7% | 1/135 |
| Dementia | 0.7% | 1/135 |
| Dyscalculia | 0.7% | 1/135 |
| Dysgraphia | 0.7% | 1/135 |
| Dysphagia | 0.7% | 1/135 |
| EEG abnormality | 0.7% | 1/135 |
| EEG with generalized epileptiform discharges | 0.7% | 1/135 |
| EEG with generalized polymorphic epileptiform discharges | 0.7% | 1/135 |
| Facial hypotonia | 0.7% | 1/135 |
| Focal tonic seizures | 0.7% | 1/135 |
| Focal seizures with impairment of consciousness or awareness | 0.7% | 1/135 |
| Focal myoclonic seizures | 0.7% | 1/135 |
| Frequent falls | 0.7% | 1/135 |
| Gait ataxia | 0.7% | 1/135 |
| Gelastic seizures | 0.7% | 1/135 |
| Generalized clonic seizures | 0.7% | 1/135 |
| Headache | 0.7% | 1/135 |
| High pitched voice | 0.7% | 1/135 |
| Hyperextensibility of the knee | 0.7% | 1/135 |
| Impaired tactile sensation | 0.7% | 1/135 |
| Impaired distal tactile sensation | 0.7% | 1/135 |
| Increased intracranial pressure | 0.7% | 1/135 |
| Infantile muscular hypotonia | 0.7% | 1/135 |
| Joint hypermobility | 0.7% | 1/135 |
| Kinetic tremor | 0.7% | 1/135 |
| Limb dystonia | 0.7% | 1/135 |
| Moderate global developmental delay | 0.7% | 1/135 |
| Muscular hypotonia of the trunk | 0.7% | 1/135 |
| Myoclonus | 0.7% | 1/135 |
| Myokymia | 0.7% | 1/135 |
| Neonatal hypotonia | 0.7% | 1/135 |
| Paresthesia | 0.7% | 1/135 |
| Polymorphic focal epileptiform discharges | 0.7% | 1/135 |
| Poor motor coordination | 0.7% | 1/135 |
| Poor eye contact | 0.7% | 1/135 |
| Poor suck | 0.7% | 1/135 |
| Short attention span | 0.7% | 1/135 |
| Shuffling gait | 0.7% | 1/135 |
| Shyness | 0.7% | 1/135 |
| Sleep myoclonus | 0.7% | 1/135 |
| Sleep disturbance | 0.7% | 1/135 |
| Slowed slurred speech | 0.7% | 1/135 |
| Spastic diplegia | 0.7% | 1/135 |
| Specific learning disability | 0.7% | 1/135 |
| Speech articulation difficulties | 0.7% | 1/135 |
| Synovitis | 0.7% | 1/135 |
| Tachypnea | 0.7% | 1/135 |
| Tethered cord | 0.7% | 1/135 |
| Truncal ataxia | 0.7% | 1/135 |
| Behavioral problems | 86.5% | 109/126 |
| Attention deficit hyperactivity disorder | 34.9% | 44/126 |
| Autism | 32.5% | 41/126 |
| Anxiety | 15.1% | 19/126 |
| Short attention span | 13.5% | 17/126 |
| Delayed speech and language development | 9.5% | 12/126 |
| Obsessive-compulsive behavior | 9.5% | 12/126 |
| Aggressive behavior | 8.7% | 11/126 |
| Impaired social interactions | 8.7% | 11/126 |
| Impulsivity | 7.9% | 10/126 |
| Autistic behavior | 5.6% | 7/126 |
| Oppositional defiant disorder | 4.8% | 6/126 |
| Abnormal aggressive, impulsive or violent behavior | 4.0% | 5/126 |
| Behavioral abnormality | 4.0% | 5/126 |
| Hyperactivity | 4.0% | 5/126 |
| Repetitive compulsive behavior | 4.0% | 5/126 |
| Global developmental delay | 3.2% | 4/126 |
| Mild global developmental delay | 3.2% | 4/126 |
| Poor eye contact | 3.2% | 4/126 |
| Recurrent hand flapping | 3.2% | 4/126 |
| Abnormal emotion/affect behavior | 2.4% | 3/126 |
| Autism with high cognitive abilities | 2.4% | 3/126 |
| Developmental regression | 2.4% | 3/126 |
| Expressive language delay | 2.4% | 3/126 |
| Inappropriate sexual behavior | 2.4% | 3/126 |
| Self-injurious behavior | 2.4% | 3/126 |
| Sensory impairment | 2.4% | 3/126 |
| Specific learning disability | 2.4% | 3/126 |
| Absent speech | 1.6% | 2/126 |
| Delayed gross motor development | 1.6% | 2/126 |
| Depression | 1.6% | 2/126 |
| Inflexible adherence to routines or rituals | 1.6% | 2/126 |
| Intellectual disability, mild | 1.6% | 2/126 |
| Irritability | 1.6% | 2/126 |
| Receptive language delay | 1.6% | 2/126 |
| Restlessness | 1.6% | 2/126 |
| Stereotypic behavior | 1.6% | 2/126 |
| Tics | 1.6% | 2/126 |
| Violent behavior | 1.6% | 2/126 |
| Abnormal fear/anxiety-related behavior | 0.8% | 1/126 |
| Abnormal social behavior | 0.8% | 1/126 |
| Abnormal eating behavior | 0.8% | 1/126 |
| Apathy | 0.8% | 1/126 |
| Cognitive impairment | 0.8% | 1/126 |
| Decreased facial expression | 0.8% | 1/126 |
| Delayed fine motor development | 0.8% | 1/126 |
| Dyslexia | 0.8% | 1/126 |
| Emotional lability | 0.8% | 1/126 |
| Enuresis nocturna | 0.8% | 1/126 |
| Inappropriate behavior | 0.8% | 1/126 |
| Insomnia | 0.8% | 1/126 |
| Intellectual disability, moderate | 0.8% | 1/126 |
| Low frustration tolerance | 0.8% | 1/126 |
| Moderate global developmental delay | 0.8% | 1/126 |
| Motor delay | 0.8% | 1/126 |
| No social interaction | 0.8% | 1/126 |
| Pain insensitivity | 0.8% | 1/126 |
| Pica | 0.8% | 1/126 |
| Poor gross motor coordination | 0.8% | 1/126 |
| Precocious puberty | 0.8% | 1/126 |
| Psychosis | 0.8% | 1/126 |
| Self-biting | 0.8% | 1/126 |
| Sensory neuropathy | 0.8% | 1/126 |
| Severe expressive language delay | 0.8% | 1/126 |
| Shyness | 0.8% | 1/126 |
| Sleep disturbance | 0.8% | 1/126 |
| Slurred speech | 0.8% | 1/126 |
| Tongue thrusting | 0.8% | 1/126 |
| Brain abnormality | 26.9% | 25/93 |
| EEG abnormality | 5.4% | 5/93 |
| Brain atrophy | 3.2% | 3/93 |
| Arachnoid cyst | 2.2% | 2/93 |
| Heterotopia | 2.2% | 2/93 |
| Abnormal length of corpus callosum | 1.1% | 1/93 |
| Abnormality of brain morphology | 1.1% | 1/93 |
| Abnormality of the sella turcica | 1.1% | 1/93 |
| Abnormality of the spinal cord | 1.1% | 1/93 |
| Aplasia/Hypoplasia of the corpus callosum | 1.1% | 1/93 |
| Aplasia/Hypoplasia of the cerebellar vermis | 1.1% | 1/93 |
| Ataxia | 1.1% | 1/93 |
| Cerebellar hypoplasia | 1.1% | 1/93 |
| Choroid plexus cyst | 1.1% | 1/93 |
| Colpocephaly | 1.1% | 1/93 |
| Deformed sella turcica | 1.1% | 1/93 |
| Delayed CNS myelination | 1.1% | 1/93 |
| Delayed closure of the anterior fontanelle | 1.1% | 1/93 |
| Dysplastic corpus callosum | 1.1% | 1/93 |
| Hydrocephalus | 1.1% | 1/93 |
| Macrocephaly | 1.1% | 1/93 |
| Meningitis | 1.1% | 1/93 |
| Microcephaly | 1.1% | 1/93 |
| Optic nerve hypoplasia | 1.1% | 1/93 |
| Perivascular spaces | 1.1% | 1/93 |
| Pineal cyst | 1.1% | 1/93 |
| Posterior fossa cyst | 1.1% | 1/93 |
| Retrocerebellar cyst | 1.1% | 1/93 |
| Small pituitary gland | 1.1% | 1/93 |
| Subdural hemorrhage | 1.1% | 1/93 |
| Ventriculomegaly | 1.1% | 1/93 |
| Facial abnormalities | ||
| Abnormality of the ear | 52.9% | 72/136 |
| Protruding ear | 23.5% | 32/136 |
| Macrotia | 22.1% | 30/136 |
| Low-set ears | 10.3% | 14/136 |
| Large fleshy ears | 3.7% | 5/136 |
| Large earlobe | 2.9% | 4/136 |
| Anteverted ears | 2.2% | 3/136 |
| Low-set, posteriorly rotated ears | 2.2% | 3/136 |
| Preauricular skin tag | 2.2% | 3/136 |
| Uplifted earlobe | 2.2% | 3/136 |
| Abnormality of the pinna | 1.5% | 2/136 |
| Abnormality of earlobe | 1.5% | 2/136 |
| Attached earlobe | 1.5% | 2/136 |
| Bilateral conductive hearing impairment | 1.5% | 2/136 |
| Chronic otitis media | 1.5% | 2/136 |
| Periauricular skin pits | 1.5% | 2/136 |
| Posteriorly rotated ears | 1.5% | 2/136 |
| Preauricular pit | 1.5% | 2/136 |
| Abnormality of the tympanic membrane | 0.7% | 1/136 |
| Abnormality of the helix | 0.7% | 1/136 |
| Abnormality of the Eustachian tube | 0.7% | 1/136 |
| Abnormality of the antihelix | 0.7% | 1/136 |
| Aplasia/Hypoplasia of the external ear | 0.7% | 1/136 |
| Asymmetry of the ears | 0.7% | 1/136 |
| Blocked Eustachian tube | 0.7% | 1/136 |
| Cholesteatoma | 0.7% | 1/136 |
| Conductive hearing impairment | 0.7% | 1/136 |
| Cupped ear | 0.7% | 1/136 |
| Hypoplastic helices | 0.7% | 1/136 |
| Long eyelashes | 0.7% | 1/136 |
| Prominent ear helix | 0.7% | 1/136 |
| Prominent eyelashes | 0.7% | 1/136 |
| Prominent antihelix | 0.7% | 1/136 |
| Recurrent infections | 0.7% | 1/136 |
| Recurrent otitis media | 0.7% | 1/136 |
| Skin dimples | 0.7% | 1/136 |
| Thickened helices | 0.7% | 1/136 |
| Abnormality of the eye | 60.3% | 82/136 |
| Hypertelorism | 17.6% | 24/136 |
| Long eyelashes | 16.9% | 23/136 |
| Synophrys | 14.0% | 19/136 |
| Thick eyebrow | 13.2% | 18/136 |
| Strabismus | 5.9% | 8/136 |
| Upslanted palpebral fissure | 5.1% | 7/136 |
| Amblyopia | 3.7% | 5/136 |
| Anteverted nares | 3.7% | 5/136 |
| Downslanted palpebral fissures | 3.7% | 5/136 |
| Large eyes | 2.9% | 4/136 |
| Long eyebrows | 2.9% | 4/136 |
| Prominent eyelashes | 2.9% | 4/136 |
| Highly arched eyebrow | 2.2% | 3/136 |
| Myopia | 2.2% | 3/136 |
| Abnormal eye morphology | 1.5% | 2/136 |
| Abnormality of vision | 1.5% | 2/136 |
| Astigmatism | 1.5% | 2/136 |
| Epicanthus | 1.5% | 2/136 |
| Horizontal eyebrow | 1.5% | 2/136 |
| Long palpebral fissure | 1.5% | 2/136 |
| Nystagmus | 1.5% | 2/136 |
| Prominent epicanthal folds | 1.5% | 2/136 |
| Short palpebral fissure | 1.5% | 2/136 |
| Unilateral strabismus | 1.5% | 2/136 |
| Abnormality of the cornea | 0.7% | 1/136 |
| Abnormality of the conjunctiva | 0.7% | 1/136 |
| Abnormal shape of the palpebral fissure | 0.7% | 1/136 |
| Abnormality of the palpebral fissures | 0.7% | 1/136 |
| Abnormality of the eyelashes | 0.7% | 1/136 |
| Abnormality of the eyelid | 0.7% | 1/136 |
| Almond-shaped palpebral fissure | 0.7% | 1/136 |
| Bilateral ptosis | 0.7% | 1/136 |
| Blepharitis | 0.7% | 1/136 |
| Congenital strabismus | 0.7% | 1/136 |
| Congenital bilateral ptosis | 0.7% | 1/136 |
| Congenital nystagmus | 0.7% | 1/136 |
| Deeply set eye | 0.7% | 1/136 |
| Difficulty adjusting from dark to light | 0.7% | 1/136 |
| Entropion | 0.7% | 1/136 |
| Esotropia | 0.7% | 1/136 |
| Exotropia | 0.7% | 1/136 |
| Hyperopic astigmatism | 0.7% | 1/136 |
| Hypotelorism | 0.7% | 1/136 |
| Iris coloboma | 0.7% | 1/136 |
| Lacrimal duct aplasia | 0.7% | 1/136 |
| Nasolacrimal duct obstruction | 0.7% | 1/136 |
| Proptosis | 0.7% | 1/136 |
| Ptosis | 0.7% | 1/136 |
| Sparse eyelashes | 0.7% | 1/136 |
| Telecanthus | 0.7% | 1/136 |
| Abnormality of the nose | 75.9% | 104/137 |
| Abnormality of the nose | 33.6% | 46/137 |
| Bulbous nose | 24.1% | 33/137 |
| Wide nasal bridge | 21.2% | 29/137 |
| Anteverted nares | 19.0% | 26/137 |
| Prominent nasal bridge | 14.6% | 20/137 |
| Wide nasal base | 10.9% | 15/137 |
| Prominent nasal tip | 10.2% | 14/137 |
| Broad nasal tip | 7.3% | 10/137 |
| Wide nose | 2.9% | 4/137 |
| Depressed nasal bridge | 2.2% | 3/137 |
| Abnormality of the nasal tip | 1.5% | 2/137 |
| Long philtrum | 1.5% | 2/137 |
| Short nose | 1.5% | 2/137 |
| Abnormal size of nasopharyngeal adenoids | 0.7% | 1/137 |
| Abnormal nasal base | 0.7% | 1/137 |
| Abnormality of the nasal bridge | 0.7% | 1/137 |
| Absent nasal bridge | 0.7% | 1/137 |
| Bulbous tips of toes | 0.7% | 1/137 |
| Choanal atresia | 0.7% | 1/137 |
| Chronic sinusitis | 0.7% | 1/137 |
| Deviated nasal septum | 0.7% | 1/137 |
| Hypertelorism | 0.7% | 1/137 |
| Hypoplastic frontal sinuses | 0.7% | 1/137 |
| Hypoplastic nasal bridge | 0.7% | 1/137 |
| Short columella | 0.7% | 1/137 |
| Thin anteverted nares | 0.7% | 1/137 |
| Abnormality of the mouth | 93.5% | 130/139 |
| Macrodontia | 41.7% | 58/139 |
| Thin upper lip vermilion | 11.5% | 16/139 |
| Thin vermilion border | 10.1% | 14/139 |
| Macrodontia of permanent maxillary central incisor | 8.6% | 12/139 |
| Long philtrum | 7.2% | 10/139 |
| Carious teeth | 6.5% | 9/139 |
| Exaggerated cupid's bow | 6.5% | 9/139 |
| High palate | 6.5% | 9/139 |
| Incisor macrodontia | 5.8% | 8/139 |
| Abnormality of upper lip vermillion | 4.3% | 6/139 |
| Dental crowding | 4.3% | 6/139 |
| Wide mouth | 4.3% | 6/139 |
| Abnormality of the teeth | 3.6% | 5/139 |
| Abnormality of dental enamel | 3.6% | 5/139 |
| Tented upper lip vermilion | 3.6% | 5/139 |
| Thick vermilion border | 3.6% | 5/139 |
| Dental malocclusion | 2.9% | 4/139 |
| Persistence of primary teeth | 2.9% | 4/139 |
| Retrognathia | 2.9% | 4/139 |
| Tented philtrum | 2.9% | 4/139 |
| Thick lower lip vermilion | 2.9% | 4/139 |
| Ankyloglossia | 2.2% | 3/139 |
| High, narrow palate | 2.2% | 3/139 |
| Abnormality of the philtrum | 1.4% | 2/139 |
| Bifid uvula | 1.4% | 2/139 |
| Hypodontia | 1.4% | 2/139 |
| Misalignment of teeth | 1.4% | 2/139 |
| Narrow palate | 1.4% | 2/139 |
| Open bite | 1.4% | 2/139 |
| Tongue thrusting | 1.4% | 2/139 |
| Velopharyngeal insufficiency | 1.4% | 2/139 |
| Abnormal number of permanent teeth | 0.7% | 1/139 |
| Abnormality of the palate | 0.7% | 1/139 |
| Abnormal number of teeth | 0.7% | 1/139 |
| Abnormality of dental morphology | 0.7% | 1/139 |
| Abnormality of oral frenula | 0.7% | 1/139 |
| Abnormal jaw morphology | 0.7% | 1/139 |
| Abnormality of the hard palate | 0.7% | 1/139 |
| Abnormality of lower lip | 0.7% | 1/139 |
| Abnormality of the soft palate | 0.7% | 1/139 |
| Abnormality of the maxilla | 0.7% | 1/139 |
| Broad philtrum | 0.7% | 1/139 |
| Cleft soft palate | 0.7% | 1/139 |
| Deep philtrum | 0.7% | 1/139 |
| Delayed eruption of teeth | 0.7% | 1/139 |
| Dental enamel pits | 0.7% | 1/139 |
| Hypoplasia of teeth | 0.7% | 1/139 |
| Jaw ankylosis | 0.7% | 1/139 |
| Long upper lip | 0.7% | 1/139 |
| Macrotia | 0.7% | 1/139 |
| Micrognathia | 0.7% | 1/139 |
| Narrow jaw | 0.7% | 1/139 |
| Overbite | 0.7% | 1/139 |
| Premature loss of primary teeth | 0.7% | 1/139 |
| Premature loss of teeth | 0.7% | 1/139 |
| Rotated maxillary central incisors | 0.7% | 1/139 |
| Short lingual frenulum | 0.7% | 1/139 |
| Taurodontia | 0.7% | 1/139 |
| Triangular mouth | 0.7% | 1/139 |
| Trismus | 0.7% | 1/139 |
| Unilateral cleft lip | 0.7% | 1/139 |
| U-Shaped upper lip vermilion | 0.7% | 1/139 |
| Yellow-brown discoloration of the teeth | 0.7% | 1/139 |
| Visual and hearing impairments | ||
| Abnormal hearing | 49.3% | 69/140 |
| Conductive hearing impairment | 12.9% | 18/140 |
| Hearing impairment | 10.7% | 15/140 |
| Bilateral conductive hearing impairment | 8.6% | 12/140 |
| Abnormality of the Eustachian tube | 2.9% | 4/140 |
| Bilateral sensorineural hearing impairment | 2.9% | 4/140 |
| Hearing abnormality | 2.1% | 3/140 |
| Mixed hearing impairment | 2.1% | 3/140 |
| Otitis media | 2.1% | 3/140 |
| Abnormality of the tympanic membrane | 1.4% | 2/140 |
| Mild hearing impairment | 1.4% | 2/140 |
| Sensorineural hearing impairment | 1.4% | 2/140 |
| Stenosis of the Eustachian tube | 1.4% | 2/140 |
| Apnea | 0.7% | 1/140 |
| Enlarged vestibular aqueduct | 0.7% | 1/140 |
| Impacted cerumen | 0.7% | 1/140 |
| Low-frequency hearing loss | 0.7% | 1/140 |
| Recurrent otitis media | 0.7% | 1/140 |
| Unilateral deafness | 0.7% | 1/140 |
| Abnormal vision | 58.6% | 78/133 |
| Astigmatism | 16.5% | 22/133 |
| Myopia | 15.0% | 20/133 |
| Strabismus | 13.5% | 18/133 |
| Hypermetropia | 11.3% | 15/133 |
| Amblyopia | 7.5% | 10/133 |
| Abnormality of vision | 6.0% | 8/133 |
| Visual impairment | 4.5% | 6/133 |
| Hyperopic astigmatism | 3.0% | 4/133 |
| Anisometropia | 2.3% | 3/133 |
| Nystagmus | 2.3% | 3/133 |
| Blurred vision | 1.5% | 2/133 |
| Unilateral strabismus | 1.5% | 2/133 |
| Cataract | 0.8% | 1/133 |
| Congenital bilateral ptosis | 0.8% | 1/133 |
| Cortical visual impairment | 0.8% | 1/133 |
| Difficulty adjusting from dark to light | 0.8% | 1/133 |
| Esotropia | 0.8% | 1/133 |
| Horizontal nystagmus | 0.8% | 1/133 |
| Intermediate uveitis | 0.8% | 1/133 |
| Peripheral visual field loss | 0.8% | 1/133 |
| Heart | ||
| Abnormality of the heart | 26.2% | 37/141 |
| Ventricular septal defect | 9.2% | 13/141 |
| Atria septal defect | 5.7% | 8/141 |
| Patent foramen ovale | 4.3% | 6/141 |
| Heart murmur | 3.5% | 5/141 |
| Abnormality of the mitral valve | 2.1% | 3/141 |
| Aortic aneurysm | 1.4% | 2/141 |
| Bicuspid aortic valve | 1.4% | 2/141 |
| Mitral regurgitation | 1.4% | 2/141 |
| Pericardial effusion | 1.4% | 2/141 |
| Persistent left superior vena cava | 1.4% | 2/141 |
| Abnormality of the endocardium | 0.7% | 1/141 |
| Abnormal heart morphology | 0.7% | 1/141 |
| Abnormality of cardiac atrium | 0.7% | 1/141 |
| Abnormality of the heart valves | 0.7% | 1/141 |
| Abnormality of the coronary arteries | 0.7% | 1/141 |
| Abnormality of the atrial septum | 0.7% | 1/141 |
| Abnormality of the aortic valve | 0.7% | 1/141 |
| Arrhythmia | 0.7% | 1/141 |
| Atrial fibrillation | 0.7% | 1/141 |
| Atrioventricular canal defect | 0.7% | 1/141 |
| Bradycardia | 0.7% | 1/141 |
| Cardiomegaly | 0.7% | 1/141 |
| Cardiac arrest | 0.7% | 1/141 |
| Coarctation of aorta | 0.7% | 1/141 |
| Dilated cardiomyopathy | 0.7% | 1/141 |
| Exercise intolerance | 0.7% | 1/141 |
| Patent ductus arteriosus after birth at term | 0.7% | 1/141 |
| Primum atrial septal defect | 0.7% | 1/141 |
| Sinus tachycardia | 0.7% | 1/141 |
| Tetralogy of Fallot with pulmonary stenosis | 0.7% | 1/141 |
| Tetralogy of Fallot | 0.7% | 1/141 |
| Pulmonary | ||
| Abnormality of the lungs | 5.1% | 4/79 |
| Asthma | 3.8% | 3/79 |
| Pulmonary hypoplasia | 1.3% | 1/79 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 51.7% | 75/145 |
| Feeding difficulties | 26.2% | 38/145 |
| Gastroesophageal reflux | 17.9% | 26/145 |
| Feeding difficulties in infancy | 12.4% | 18/145 |
| Constipation | 8.3% | 12/145 |
| Vomiting | 7.6% | 11/145 |
| Nasogastric tube feeding in infancy | 4.8% | 7/145 |
| Abdominal pain | 3.4% | 5/145 |
| Chronic constipation | 3.4% | 5/145 |
| Episodic vomiting | 3.4% | 5/145 |
| Dysphagia | 2.8% | 4/145 |
| Poor suck | 2.8% | 4/145 |
| Gastrostomy tube feeding in infancy | 2.1% | 3/145 |
| Diarrhea | 1.4% | 2/145 |
| Hiatus hernia | 1.4% | 2/145 |
| Inguinal hernia | 1.4% | 2/145 |
| Projectile vomiting | 1.4% | 2/145 |
| Abdominal colic | 0.7% | 1/145 |
| Abdominal distention | 0.7% | 1/145 |
| Aspiration | 0.7% | 1/145 |
| Bowel urgency | 0.7% | 1/145 |
| Bowel incontinence | 0.7% | 1/145 |
| Celiac disease | 0.7% | 1/145 |
| Chewing difficulties | 0.7% | 1/145 |
| Chronic diarrhea | 0.7% | 1/145 |
| Chylothorax | 0.7% | 1/145 |
| Crohn's disease | 0.7% | 1/145 |
| Delayed self-feeding during toddler years | 0.7% | 1/145 |
| Episodic abdominal pain | 0.7% | 1/145 |
| Esophagitis | 0.7% | 1/145 |
| Exocrine pancreatic insufficiency | 0.7% | 1/145 |
| Food intolerance | 0.7% | 1/145 |
| Gastroparesis | 0.7% | 1/145 |
| Gastrointestinal obstruction | 0.7% | 1/145 |
| Hernia | 0.7% | 1/145 |
| Hypoglycemia | 0.7% | 1/145 |
| Intestinal malrotation | 0.7% | 1/145 |
| Nausea and vomiting | 0.7% | 1/145 |
| Nausea | 0.7% | 1/145 |
| Oral aversion | 0.7% | 1/145 |
| Poor appetite | 0.7% | 1/145 |
| Rectal prolapse | 0.7% | 1/145 |
| Recurrent candida infections | 0.7% | 1/145 |
| Umbilical hernia | 0.7% | 1/145 |
| Weight loss | 0.7% | 1/145 |
| Urogenital | ||
| Abnormality of the urogenital system | 30.7% | 42/137 |
| Cryptorchidism | 12.4% | 17/137 |
| Hypospadias | 2.9% | 4/137 |
| Recurrent urinary tract infections | 2.9% | 4/137 |
| Inguinal hernia | 2.2% | 3/137 |
| Abnormality of the renal collecting system | 1.5% | 2/137 |
| Abnormality of the kidney | 1.5% | 2/137 |
| Bilateral cryptorchidism | 1.5% | 2/137 |
| Abnormality of the bladder | 0.7% | 1/137 |
| Abnormality of the urethra | 0.7% | 1/137 |
| Benign prostatic hyperplasia | 0.7% | 1/137 |
| Congenital absence of foreskin | 0.7% | 1/137 |
| Enuresis nocturna | 0.7% | 1/137 |
| Enuresis | 0.7% | 1/137 |
| Enuresis diurna | 0.7% | 1/137 |
| Functional abnormality of the bladder | 0.7% | 1/137 |
| Hydronephrosis | 0.7% | 1/137 |
| Hydrocele testis | 0.7% | 1/137 |
| Infertility | 0.7% | 1/137 |
| Phimosis | 0.7% | 1/137 |
| Pollakisuria | 0.7% | 1/137 |
| Polycystic ovaries | 0.7% | 1/137 |
| Polyuria | 0.7% | 1/137 |
| Testicular torsion | 0.7% | 1/137 |
| Unilateral cryptorchidism | 0.7% | 1/137 |
| Urinary incontinence | 0.7% | 1/137 |
| Vesicoureteral reflux | 0.7% | 1/137 |
| Skeleton | ||
| Skeletal abnormalities | 86.1% | 124/144 |
| Pes planus | 18.1% | 26/144 |
| Short stature | 14.6% | 21/144 |
| Clinodactyly of the 5th finger | 13.2% | 19/144 |
| Delayed skeletal maturation | 13.2% | 19/144 |
| Scoliosis | 13.2% | 19/144 |
| Brachydactyly syndrome | 9.0% | 13/144 |
| Brachycephaly | 8.3% | 12/144 |
| Clinodactyly | 6.9% | 10/144 |
| Generalized hypotonia | 5.6% | 8/144 |
| Hip dysplasia | 5.6% | 8/144 |
| Kyphosis | 4.9% | 7/144 |
| Sacral dimple | 4.9% | 7/144 |
| Small hand | 4.9% | 7/144 |
| Large fontanelles | 4.2% | 6/144 |
| Macrocephaly | 4.2% | 6/144 |
| Pectus excavatum | 4.2% | 6/144 |
| Abnormality of the ribs | 3.5% | 5/144 |
| 2-3 toe syndactyly | 3.5% | 5/144 |
| Muscular hypotonia | 2.8% | 4/144 |
| Short 5th finger | 2.8% | 4/144 |
| Abnormality of the hand | 2.1% | 3/144 |
| Abnormality of the hip joint | 2.1% | 3/144 |
| Kyphoscoliosis | 2.1% | 3/144 |
| Microcephaly | 2.1% | 3/144 |
| Mild short stature | 2.1% | 3/144 |
| Plagiocephaly | 2.1% | 3/144 |
| Sandal gap | 2.1% | 3/144 |
| Short foot | 2.1% | 3/144 |
| Toe clinodactyly | 2.1% | 3/144 |
| Abnormality of the anterior fontanelle | 1.4% | 2/144 |
| Abnormality of the foot | 1.4% | 2/144 |
| Abnormality of the ankles | 1.4% | 2/144 |
| Abnormality of the hallux | 1.4% | 2/144 |
| Abnormality of the thumb | 1.4% | 2/144 |
| Achilles tendon contracture | 1.4% | 2/144 |
| Cervical kyphosis | 1.4% | 2/144 |
| Cervical ribs | 1.4% | 2/144 |
| Delayed cranial suture closure | 1.4% | 2/144 |
| Delayed closure of the anterior fontanelle | 1.4% | 2/144 |
| Dysharmonic delayed bone age | 1.4% | 2/144 |
| Flat occiput | 1.4% | 2/144 |
| Generalized osteoporosis | 1.4% | 2/144 |
| Lumbar hyperlordosis | 1.4% | 2/144 |
| Muscular hypotonia of the trunk | 1.4% | 2/144 |
| Osteopenia | 1.4% | 2/144 |
| Severe short stature | 1.4% | 2/144 |
| Single transverse palmar crease | 1.4% | 2/144 |
| Thoracic kyphosis | 1.4% | 2/144 |
| Toe walking | 1.4% | 2/144 |
| Unilateral brachydactyly | 1.4% | 2/144 |
| Wide anterior fontanel | 1.4% | 2/144 |
| Abnormality of the vertebral column | 0.7% | 1/144 |
| Abnormality of the middle phalanx of the 5th finger | 0.7% | 1/144 |
| Abnormal morphology of bones of the lower limbs | 0.7% | 1/144 |
| Abnormality of the femur | 0.7% | 1/144 |
| Abnormality of the middle phalanx of the 2nd finger | 0.7% | 1/144 |
| Abnormal axial skeleton morphology | 0.7% | 1/144 |
| Abnormality of the hip bone | 0.7% | 1/144 |
| Abnormality of the vertebrae | 0.7% | 1/144 |
| Abnormal joint morphology | 0.7% | 1/144 |
| Abnormality of the vertebral endplates | 0.7% | 1/144 |
| Abnormality of the thorax | 0.7% | 1/144 |
| Abnormality of the rib cage | 0.7% | 1/144 |
| Abnormal form of the vertebral bodies | 0.7% | 1/144 |
| Abnormal bone ossification | 0.7% | 1/144 |
| Abnormality of the palmar creases | 0.7% | 1/144 |
| Abnormality of the 5th finger | 0.7% | 1/144 |
| Abnormal tendon morphology | 0.7% | 1/144 |
| Ankle clonus | 0.7% | 1/144 |
| Aplasia/Hypoplasia of the maxilla | 0.7% | 1/144 |
| Aplasia/Hypoplasia of the middle phalanges of the hand | 0.7% | 1/144 |
| Avascular necrosis of the capital femoral epiphysis | 0.7% | 1/144 |
| Back pain | 0.7% | 1/144 |
| Bilateral single transverse palmar creases | 0.7% | 1/144 |
| Bone cyst | 0.7% | 1/144 |
| Broad forehead | 0.7% | 1/144 |
| Broad palm | 0.7% | 1/144 |
| Broad toe | 0.7% | 1/144 |
| Camptodactyly of finger | 0.7% | 1/144 |
| Camptodactyly | 0.7% | 1/144 |
| Central hypotonia | 0.7% | 1/144 |
| Clinodactyly of the 5th toe | 0.7% | 1/144 |
| Congenital hip dislocation | 0.7% | 1/144 |
| Coxa valga | 0.7% | 1/144 |
| Craniosynostosis | 0.7% | 1/144 |
| Curved fingers | 0.7% | 1/144 |
| Dolichocephaly | 0.7% | 1/144 |
| Down-sloping shoulders | 0.7% | 1/144 |
| Finger joint hypermobility | 0.7% | 1/144 |
| Flattened moderately deformed vertebrae | 0.7% | 1/144 |
| Gait ataxia | 0.7% | 1/144 |
| Gait disturbance | 0.7% | 1/144 |
| Hallux varus | 0.7% | 1/144 |
| Hypermobility of toe joints | 0.7% | 1/144 |
| Hyperlordosis | 0.7% | 1/144 |
| Hypocalcemia | 0.7% | 1/144 |
| Increased susceptibility to fractures | 0.7% | 1/144 |
| Intrauterine growth retardation | 0.7% | 1/144 |
| Joint contracture of the hand | 0.7% | 1/144 |
| Limb joint contracture | 0.7% | 1/144 |
| Limited pronation/supination of forearm | 0.7% | 1/144 |
| Lower limb pain | 0.7% | 1/144 |
| Lower thoracic kyphosis | 0.7% | 1/144 |
| Lumbar scoliosis | 0.7% | 1/144 |
| Metatarsus adductus | 0.7% | 1/144 |
| Multiple palmar creases | 0.7% | 1/144 |
| Osteochondritis Dissecans | 0.7% | 1/144 |
| Painless fractures due to injury | 0.7% | 1/144 |
| Patellar dislocation | 0.7% | 1/144 |
| Pectus carinatum | 0.7% | 1/144 |
| Pelvic bone asymmetry | 0.7% | 1/144 |
| Persistent open anterior fontanelle | 0.7% | 1/144 |
| Postaxial hand polydactyly | 0.7% | 1/144 |
| Proportionate short stature | 0.7% | 1/144 |
| Pseudoepiphyses of second metacarpal | 0.7% | 1/144 |
| Sacralization of the fifth lumbar vertebra | 0.7% | 1/144 |
| Scapular winging | 0.7% | 1/144 |
| Short humerus | 0.7% | 1/144 |
| Shortening of all middle phalanges of the fingers | 0.7% | 1/144 |
| Shortening of all proximal phalanges of the fingers | 0.7% | 1/144 |
| Short lower limbs | 0.7% | 1/144 |
| Short hallux | 0.7% | 1/144 |
| Shortening of all distal phalanges of the fingers | 0.7% | 1/144 |
| Short digit | 0.7% | 1/144 |
| Short toe | 0.7% | 1/144 |
| Short finger | 0.7% | 1/144 |
| Short palm | 0.7% | 1/144 |
| Small for gestational age | 0.7% | 1/144 |
| Spina bifida occulta | 0.7% | 1/144 |
| Syndactyly | 0.7% | 1/144 |
| Tapered finger | 0.7% | 1/144 |
| Tethered cord | 0.7% | 1/144 |
| Thoracolumbar scoliosis | 0.7% | 1/144 |
| Tibial torsion | 0.7% | 1/144 |
| Toe syndactyly | 0.7% | 1/144 |
| Trigonocephaly | 0.7% | 1/144 |
| Unsteady gait | 0.7% | 1/144 |
| Upper limb undergrowth | 0.7% | 1/144 |
| Wormian bones | 0.7% | 1/144 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 38.6% | 54/140 |
| Abnormality of the skin | 15.7% | 22/140 |
| Low anterior hairline | 6.4% | 9/140 |
| Single transverse palmar crease | 2.9% | 4/140 |
| Coarse hair | 2.1% | 3/140 |
| Dry skin | 2.1% | 3/140 |
| Dystrophic toenail | 2.1% | 3/140 |
| Eczema | 2.1% | 3/140 |
| Fingernail dysplasia | 2.1% | 3/140 |
| Hyperkeratosis pilaris | 2.1% | 3/140 |
| Macrodontia of permanent maxillary central incisor | 2.1% | 3/140 |
| Cutis marmorata | 1.4% | 2/140 |
| Facial hirsutism | 1.4% | 2/140 |
| Hirsutism | 1.4% | 2/140 |
| Inverted nipples | 1.4% | 2/140 |
| Low posterior hairline | 1.4% | 2/140 |
| Psoriasis | 1.4% | 2/140 |
| Abnormality of the palmar creases | 0.7% | 1/140 |
| Abnormality of the fingernails | 0.7% | 1/140 |
| Abnormality of dental eruption | 0.7% | 1/140 |
| Abnormality of the scalp | 0.7% | 1/140 |
| Abnormal hair whorl | 0.7% | 1/140 |
| Abnormality of the nipple | 0.7% | 1/140 |
| Abnormality of the frontal hairline | 0.7% | 1/140 |
| Abnormality of the nail | 0.7% | 1/140 |
| Absent toenail | 0.7% | 1/140 |
| Acne | 0.7% | 1/140 |
| Atopic dermatitis | 0.7% | 1/140 |
| Atypical scarring of skin | 0.7% | 1/140 |
| Cafe-au-lait spot | 0.7% | 1/140 |
| Cellulitis | 0.7% | 1/140 |
| Clinodactyly of the 5th finger | 0.7% | 1/140 |
| Cyst of the eyelid | 0.7% | 1/140 |
| Dental malocclusion | 0.7% | 1/140 |
| Fine hair | 0.7% | 1/140 |
| Frontal upsweep of hair | 0.7% | 1/140 |
| Hypertrichosis | 0.7% | 1/140 |
| Increased number of teeth | 0.7% | 1/140 |
| Multiple plantar creases | 0.7% | 1/140 |
| Nevus | 0.7% | 1/140 |
| Prominent eyelashes | 0.7% | 1/140 |
| Recurrent fungal infections | 0.7% | 1/140 |
| Sacral dimple | 0.7% | 1/140 |
| Small nail | 0.7% | 1/140 |
| Sparse anterior scalp hair | 0.7% | 1/140 |
| Sparse hair | 0.7% | 1/140 |
| Thick hair | 0.7% | 1/140 |
| Thin skin | 0.7% | 1/140 |
| Umbilical hernia | 0.7% | 1/140 |
| Urticaria | 0.7% | 1/140 |
| Vitiligo | 0.7% | 1/140 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 13.3% | 18/135 |
| Growth hormone deficiency | 4.4% | 6/135 |
| Precocious puberty in females | 1.5% | 2/135 |
| Abnormality of folate metabolism | 0.7% | 1/135 |
| Abnormal glucose homeostasis | 0.7% | 1/135 |
| Adrenal insufficiency | 0.7% | 1/135 |
| Decreased serum insulin-like growth factor 1 | 0.7% | 1/135 |
| Diabetes mellitus | 0.7% | 1/135 |
| Dysharmonic delayed bone age | 0.7% | 1/135 |
| Facial hirsutism | 0.7% | 1/135 |
| Fatigue | 0.7% | 1/135 |
| Generalized hirsutism | 0.7% | 1/135 |
| Generalized osteoporosis | 0.7% | 1/135 |
| Hirsutism | 0.7% | 1/135 |
| Hyperglycemia | 0.7% | 1/135 |
| Hypoglycemia | 0.7% | 1/135 |
| Hypohidrotic ectodermal dysplasia | 0.7% | 1/135 |
| Increased circulating ACTH level | 0.7% | 1/135 |
| Juvenile rheumatoid arthritis | 0.7% | 1/135 |
| Menstrual irregularities | 0.7% | 1/135 |
| Neonatal hypoglycemia | 0.7% | 1/135 |
| Polydipsia | 0.7% | 1/135 |
| Polyuria | 0.7% | 1/135 |
| Short stature | 0.7% | 1/135 |
| Small pituitary gland | 0.7% | 1/135 |
| Thyroid-stimulating hormone excess | 0.7% | 1/135 |
| Abnormality of the metabolic system | 20.0% | 28/140 |
| Slender build | 4.3% | 6/140 |
| Abnormality of temperature regulation | 3.6% | 5/140 |
| Failure to thrive | 2.9% | 4/140 |
| Pain insensitivity | 2.9% | 4/140 |
| Sleep disturbance | 2.9% | 4/140 |
| Chronic fatigue | 2.1% | 3/140 |
| Failure to thrive in infancy | 2.1% | 3/140 |
| Impaired pain sensation | 2.1% | 3/140 |
| Abnormality of body weight | 1.4% | 2/140 |
| Anemia | 1.4% | 2/140 |
| Apnea | 1.4% | 2/140 |
| Abnormality of alkaline phosphatase activity | 0.7% | 1/140 |
| Abnormality of copper homeostasis | 0.7% | 1/140 |
| Abnormality of pain sensation | 0.7% | 1/140 |
| Abnormal platelet function | 0.7% | 1/140 |
| Absence of subcutaneous fat | 0.7% | 1/140 |
| Aspiration | 0.7% | 1/140 |
| Asthma | 0.7% | 1/140 |
| Bruising susceptibility | 0.7% | 1/140 |
| Congenital diaphragmatic hernia | 0.7% | 1/140 |
| Cyanotic episode | 0.7% | 1/140 |
| Edema | 0.7% | 1/140 |
| Erythrocyte macrocytosis | 0.7% | 1/140 |
| Generalized edema | 0.7% | 1/140 |
| Hamstring contractures | 0.7% | 1/140 |
| Hyperbilirubinemia | 0.7% | 1/140 |
| Impaired temperature sensation | 0.7% | 1/140 |
| Inguinal hernia | 0.7% | 1/140 |
| Iron deficiency anemia | 0.7% | 1/140 |
| Jaundice | 0.7% | 1/140 |
| Neonatal respiratory distress | 0.7% | 1/140 |
| Postnatal growth retardation | 0.7% | 1/140 |
| Prolonged neonatal jaundice | 0.7% | 1/140 |
| Pulmonary edema | 0.7% | 1/140 |
| Reduced factor VII activity | 0.7% | 1/140 |
| Sleep apnea | 0.7% | 1/140 |
| Small for gestational age | 0.7% | 1/140 |
| Umbilical hernia | 0.7% | 1/140 |
| Weight loss | 0.7% | 1/140 |
| Abnormality of the immune system | 17.2% | 23/134 |
| Allergy | 3.0% | 4/134 |
| Recurrent otitis media | 3.0% | 4/134 |
| Recurrent infections in infancy and early childhood | 1.5% | 2/134 |
| Recurrent sinusitis | 1.5% | 2/134 |
| Sinusitis | 1.5% | 2/134 |
| Abnormality of B cells | 0.7% | 1/134 |
| Abnormality of cellular immune system | 0.7% | 1/134 |
| Abnormal size of nasopharyngeal adenoids | 0.7% | 1/134 |
| Abnormality of T cells | 0.7% | 1/134 |
| Abnormal immunoglobulin level | 0.7% | 1/134 |
| Allergic rhinitis | 0.7% | 1/134 |
| Celiac disease | 0.7% | 1/134 |
| Cellular immunodeficiency | 0.7% | 1/134 |
| Chronic sinusitis | 0.7% | 1/134 |
| Cow milk allergy | 0.7% | 1/134 |
| Episodic fever | 0.7% | 1/134 |
| Esophagitis | 0.7% | 1/134 |
| Immunodeficiency | 0.7% | 1/134 |
| Increased size of nasopharyngeal adenoids | 0.7% | 1/134 |
| Juvenile rheumatoid arthritis | 0.7% | 1/134 |
| Leukopenia | 0.7% | 1/134 |
| Lymphopenia | 0.7% | 1/134 |
| Pancytopenia | 0.7% | 1/134 |
| Pneumonia | 0.7% | 1/134 |
| Psoriasis | 0.7% | 1/134 |
| Recurrent upper respiratory tract infections | 0.7% | 1/134 |
| Recurrent infections | 0.7% | 1/134 |
| Rheumatoid arthritis | 0.7% | 1/134 |
| Seasonal allergy | 0.7% | 1/134 |