NAA10
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 34.4% | 45/131 |
| Female | 65.6% | 86/131 |
| Indifferent | 0% | 0/131 |
| Unknown | 0% | 0/131 |
| General | ||
| Birth Length abnormalities | 26.5% | 44/166 |
| < P3 : Birth length less than 3rd percentile | 26.5% | 44/166 |
| Birth Weight abnormalities | 30.6% | 52/170 |
| < P3 : Small for gestational age | 28.8% | 49/170 |
| > P98 : Large for gestational age | 1.8% | 3/170 |
| Birth Head circumference abnormalities | 32.7% | 54/165 |
| < P3 : Primary microcephaly | 32.1% | 53/165 |
| > P98 : Macrocephaly at birth | 0.6% | 1/165 |
| Current Height abnormalities | 37.5% | 63/168 |
| < P3 : Short stature | 35.7% | 60/168 |
| > P98 : Tall stature | 1.8% | 3/168 |
| Current Weight abnormalities | 32.2% | 55/171 |
| < P3 : Decreased body weight | 32.2% | 55/171 |
| Current Head circumference abnormalities | 42.3% | 71/168 |
| < P3 : Microcephaly | 41.1% | 69/168 |
| > P98 : Macrocephaly | 1.2% | 2/168 |
| Neurology | ||
| Neurological abnormalities | 96.9% | 125/129 |
| Delayed speech and language development | 33.3% | 43/129 |
| Severe global developmental delay | 33.3% | 43/129 |
| Motor delay | 32.6% | 42/129 |
| Global developmental delay | 29.5% | 38/129 |
| Gait disturbance | 22.5% | 29/129 |
| Generalized hypotonia | 22.5% | 29/129 |
| Seizure | 20.2% | 26/129 |
| Neonatal hypotonia | 14.0% | 18/129 |
| Absent speech | 11.6% | 15/129 |
| Moderate global developmental delay | 10.9% | 14/129 |
| Poor fine motor coordination | 10.9% | 14/129 |
| Delayed fine motor development | 10.1% | 13/129 |
| Microcephaly | 7.8% | 10/129 |
| obsolete Poor coordination | 6.2% | 8/129 |
| obsolete Toe walking | 6.2% | 8/129 |
| Delayed gross motor development | 5.4% | 7/129 |
| Gait imbalance | 5.4% | 7/129 |
| Developmental regression | 4.7% | 6/129 |
| Generalized neonatal hypotonia | 4.7% | 6/129 |
| Expressive language delay | 3.9% | 5/129 |
| Frequent falls | 3.9% | 5/129 |
| Generalized non-motor (absence) seizure | 3.9% | 5/129 |
| Inability to walk | 3.9% | 5/129 |
| obsolete Poor motor coordination | 3.9% | 5/129 |
| Profound intellectual disability | 3.9% | 5/129 |
| Apraxia | 3.1% | 4/129 |
| Autism | 3.1% | 4/129 |
| Bilateral tonic-clonic seizure | 3.1% | 4/129 |
| Broad-based gait | 3.1% | 4/129 |
| Cerebral palsy | 3.1% | 4/129 |
| Dystonia | 3.1% | 4/129 |
| EEG abnormality | 3.1% | 4/129 |
| Ventriculomegaly | 3.1% | 4/129 |
| Floppy infant | 2.3% | 3/129 |
| Hemiparesis | 2.3% | 3/129 |
| Intellectual disability | 2.3% | 3/129 |
| Limb hypertonia | 2.3% | 3/129 |
| Mild intellectual disability | 2.3% | 3/129 |
| Myoclonus | 2.3% | 3/129 |
| obsolete Infantile axial hypotonia | 2.3% | 3/129 |
| Profound global developmental delay | 2.3% | 3/129 |
| Severe intellectual disability | 2.3% | 3/129 |
| Attention deficit hyperactivity disorder | 1.6% | 2/129 |
| Difficulty standing | 1.6% | 2/129 |
| Gait apraxia | 1.6% | 2/129 |
| Generalized myoclonic seizure | 1.6% | 2/129 |
| Generalized myoclonic-atonic seizure | 1.6% | 2/129 |
| Hydrocephalus | 1.6% | 2/129 |
| Hypoplasia of the corpus callosum | 1.6% | 2/129 |
| Hypotonia | 1.6% | 2/129 |
| Migraine | 1.6% | 2/129 |
| Neurodevelopmental delay | 1.6% | 2/129 |
| obsolete Joint hyperflexibility | 1.6% | 2/129 |
| obsolete Difficulty walking | 1.6% | 2/129 |
| Receptive language delay | 1.6% | 2/129 |
| Repetitive compulsive behavior | 1.6% | 2/129 |
| Specific learning disability | 1.6% | 2/129 |
| Abducens palsy | 0.8% | 1/129 |
| Abnormal choroid plexus morphology | 0.8% | 1/129 |
| Abnormality of coordination | 0.8% | 1/129 |
| Abnormal pyramidal sign | 0.8% | 1/129 |
| Abnormal posturing | 0.8% | 1/129 |
| Abnormal muscle tone | 0.8% | 1/129 |
| Absent Achilles reflex | 0.8% | 1/129 |
| Agenesis of corpus callosum | 0.8% | 1/129 |
| Aphasia | 0.8% | 1/129 |
| Arachnoid cyst | 0.8% | 1/129 |
| Atonic seizure | 0.8% | 1/129 |
| Axial hypotonia | 0.8% | 1/129 |
| Bowel incontinence | 0.8% | 1/129 |
| Brachial plexus neuropathy | 0.8% | 1/129 |
| Bulbar palsy | 0.8% | 1/129 |
| Chorea | 0.8% | 1/129 |
| Cognitive impairment | 0.8% | 1/129 |
| Craniosynostosis | 0.8% | 1/129 |
| Dandy-Walker malformation | 0.8% | 1/129 |
| Delayed cranial suture closure | 0.8% | 1/129 |
| Dolichocephaly | 0.8% | 1/129 |
| EEG with generalized epileptiform discharges | 0.8% | 1/129 |
| Epileptic spasm | 0.8% | 1/129 |
| Episodic generalized hypotonia | 0.8% | 1/129 |
| Episodic vomiting | 0.8% | 1/129 |
| Esotropia | 0.8% | 1/129 |
| Exaggerated startle response | 0.8% | 1/129 |
| Facial grimacing | 0.8% | 1/129 |
| Focal clonic seizure | 0.8% | 1/129 |
| Gait ataxia | 0.8% | 1/129 |
| Inability to walk by childhood/adolescence | 0.8% | 1/129 |
| Increased intracranial pressure | 0.8% | 1/129 |
| Increased femoral anteversion | 0.8% | 1/129 |
| Joint hypermobility | 0.8% | 1/129 |
| Microphthalmia | 0.8% | 1/129 |
| Migraine with aura | 0.8% | 1/129 |
| Mild global developmental delay | 0.8% | 1/129 |
| Moderate receptive language delay | 0.8% | 1/129 |
| Moderate intellectual disability | 0.8% | 1/129 |
| Motor stereotypy | 0.8% | 1/129 |
| Motor deterioration | 0.8% | 1/129 |
| Muscle stiffness | 0.8% | 1/129 |
| Muscle weakness | 0.8% | 1/129 |
| Myoclonic spasms | 0.8% | 1/129 |
| Myotonia | 0.8% | 1/129 |
| obsolete Ligamentous laxity | 0.8% | 1/129 |
| Pain insensitivity | 0.8% | 1/129 |
| Parkinsonism | 0.8% | 1/129 |
| Partial absence of the septum pellucidum | 0.8% | 1/129 |
| Periventricular leukomalacia | 0.8% | 1/129 |
| Plagiocephaly | 0.8% | 1/129 |
| Poor gross motor coordination | 0.8% | 1/129 |
| Severe receptive language delay | 0.8% | 1/129 |
| Severe expressive language delay | 0.8% | 1/129 |
| Somatic sensory dysfunction | 0.8% | 1/129 |
| Spasticity | 0.8% | 1/129 |
| Spina bifida occulta | 0.8% | 1/129 |
| Stroke | 0.8% | 1/129 |
| Tremor | 0.8% | 1/129 |
| Unsteady gait | 0.8% | 1/129 |
| Vasovagal syncope | 0.8% | 1/129 |
| Vocal cord paralysis | 0.8% | 1/129 |
| Behavioral problems | 87.1% | 88/101 |
| Reduced eye contact | 28.7% | 29/101 |
| Absent speech | 26.7% | 27/101 |
| Short attention span | 23.8% | 24/101 |
| Aggressive behavior | 18.8% | 19/101 |
| Delayed speech and language development | 18.8% | 19/101 |
| Autistic behavior | 16.8% | 17/101 |
| Hyperactivity | 16.8% | 17/101 |
| Attention deficit hyperactivity disorder | 14.9% | 15/101 |
| Self-biting | 12.9% | 13/101 |
| Repetitive compulsive behavior | 11.9% | 12/101 |
| Agitation | 10.9% | 11/101 |
| Anxiety | 10.9% | 11/101 |
| Self-injurious behavior | 10.9% | 11/101 |
| Autism | 8.9% | 9/101 |
| Impulsivity | 8.9% | 9/101 |
| Irritability | 6.9% | 7/101 |
| Low frustration tolerance | 6.9% | 7/101 |
| Motor stereotypy | 6.9% | 7/101 |
| Profound intellectual disability | 6.9% | 7/101 |
| Compulsive behaviors | 5.0% | 5/101 |
| Global developmental delay | 5.0% | 5/101 |
| Head-banging | 5.0% | 5/101 |
| Somatic sensory dysfunction | 5.0% | 5/101 |
| Drooling | 4.0% | 4/101 |
| Expressive language delay | 4.0% | 4/101 |
| Hair-pulling | 4.0% | 4/101 |
| Moderate global developmental delay | 4.0% | 4/101 |
| obsolete Abnormal aggressive, impulsive or violent behavior | 4.0% | 4/101 |
| Receptive language delay | 4.0% | 4/101 |
| Specific learning disability | 4.0% | 4/101 |
| Developmental regression | 3.0% | 3/101 |
| Intellectual disability | 3.0% | 3/101 |
| Recurrent hand flapping | 3.0% | 3/101 |
| Sleep disturbance | 3.0% | 3/101 |
| obsolete Mood swings | 2.0% | 2/101 |
| obsolete Poor coordination | 2.0% | 2/101 |
| Oppositional defiant disorder | 2.0% | 2/101 |
| Restlessness | 2.0% | 2/101 |
| Self-mutilation | 2.0% | 2/101 |
| Violent behavior | 2.0% | 2/101 |
| Abnormal eating behavior | 1.0% | 1/101 |
| Atypical behavior | 1.0% | 1/101 |
| Broad-based gait | 1.0% | 1/101 |
| Cognitive impairment | 1.0% | 1/101 |
| Conspicuously happy disposition | 1.0% | 1/101 |
| Delayed early-childhood social milestone development | 1.0% | 1/101 |
| Difficulty standing | 1.0% | 1/101 |
| Dysgraphia | 1.0% | 1/101 |
| Emotional lability | 1.0% | 1/101 |
| Generalized hypotonia | 1.0% | 1/101 |
| Impaired visuospatial constructive cognition | 1.0% | 1/101 |
| Motor tics | 1.0% | 1/101 |
| Nail-biting | 1.0% | 1/101 |
| obsolete Socially inappropriate behavior | 1.0% | 1/101 |
| obsolete Toe walking | 1.0% | 1/101 |
| Phonic tics | 1.0% | 1/101 |
| Pica | 1.0% | 1/101 |
| Poor fine motor coordination | 1.0% | 1/101 |
| Sensory neuropathy | 1.0% | 1/101 |
| Severe expressive language delay | 1.0% | 1/101 |
| Severe intellectual disability | 1.0% | 1/101 |
| Severe receptive language delay | 1.0% | 1/101 |
| Severe global developmental delay | 1.0% | 1/101 |
| Slurred speech | 1.0% | 1/101 |
| Stereotypical body rocking | 1.0% | 1/101 |
| Stereotypical hand wringing | 1.0% | 1/101 |
| Brain abnormality | 68.0% | 68/100 |
| Hypoplasia of the corpus callosum | 18.0% | 18/100 |
| Ventriculomegaly | 15.0% | 15/100 |
| Periventricular leukomalacia | 14.0% | 14/100 |
| Abnormal periventricular white matter morphology | 6.0% | 6/100 |
| Aplasia/Hypoplasia of the corpus callosum | 6.0% | 6/100 |
| Abnormal corpus callosum morphology | 4.0% | 4/100 |
| Abnormal cerebral ventricle morphology | 4.0% | 4/100 |
| Agenesis of corpus callosum | 4.0% | 4/100 |
| Cerebral atrophy | 4.0% | 4/100 |
| EEG abnormality | 4.0% | 4/100 |
| Cerebral white matter hypoplasia | 3.0% | 3/100 |
| Hydrocephalus | 3.0% | 3/100 |
| Hypointensity of cerebral white matter on MRI | 3.0% | 3/100 |
| Abnormal subarachnoid space morphology | 2.0% | 2/100 |
| Abnormal cerebral white matter morphology | 2.0% | 2/100 |
| Aplasia/Hypoplasia of the cerebral white matter | 2.0% | 2/100 |
| Arachnoid cyst | 2.0% | 2/100 |
| Central nervous system cyst | 2.0% | 2/100 |
| Cerebellar vermis hypoplasia | 2.0% | 2/100 |
| Cerebral cortical atrophy | 2.0% | 2/100 |
| Gliosis | 2.0% | 2/100 |
| Intracranial hemorrhage | 2.0% | 2/100 |
| Widened subarachnoid space | 2.0% | 2/100 |
| Abnormal globus pallidus morphology | 1.0% | 1/100 |
| Abnormal cerebral cortex morphology | 1.0% | 1/100 |
| Abnormal morphology of the limbic system | 1.0% | 1/100 |
| Abnormal sella turcica morphology | 1.0% | 1/100 |
| Abnormal anterior fontanelle morphology | 1.0% | 1/100 |
| Abnormal basal ganglia morphology | 1.0% | 1/100 |
| Abnormality of extrapyramidal motor function | 1.0% | 1/100 |
| Abnormal lateral ventricle morphology | 1.0% | 1/100 |
| Abnormal fourth ventricle morphology | 1.0% | 1/100 |
| Abnormal size of pituitary gland | 1.0% | 1/100 |
| Absent septum pellucidum | 1.0% | 1/100 |
| Aplasia/Hypoplasia of the cerebellar vermis | 1.0% | 1/100 |
| Brain neoplasm | 1.0% | 1/100 |
| Cerebellar atrophy | 1.0% | 1/100 |
| Cerebral white matter atrophy | 1.0% | 1/100 |
| Colpocephaly | 1.0% | 1/100 |
| Communicating hydrocephalus | 1.0% | 1/100 |
| Delayed closure of the anterior fontanelle | 1.0% | 1/100 |
| Delayed CNS myelination | 1.0% | 1/100 |
| Diffuse demyelination of the cerebral white matter | 1.0% | 1/100 |
| EEG with polyspike wave complexes | 1.0% | 1/100 |
| EEG with generalized spikes | 1.0% | 1/100 |
| Encephalomalacia | 1.0% | 1/100 |
| Enlarged cisterna magna | 1.0% | 1/100 |
| Enlarged hippocampus | 1.0% | 1/100 |
| Extra-axial cerebrospinal fluid accumulation | 1.0% | 1/100 |
| Focal T2 hyperintense basal ganglia lesion | 1.0% | 1/100 |
| Hypodysplasia of the corpus callosum | 1.0% | 1/100 |
| Hypoplasia of the brainstem | 1.0% | 1/100 |
| Intraventricular hemorrhage | 1.0% | 1/100 |
| Intracranial cystic lesion | 1.0% | 1/100 |
| Lateral ventricle dilatation | 1.0% | 1/100 |
| Medulloblastoma | 1.0% | 1/100 |
| Microcephaly | 1.0% | 1/100 |
| Mild fetal ventriculomegaly | 1.0% | 1/100 |
| Multiple suture craniosynostosis | 1.0% | 1/100 |
| Noncommunicating hydrocephalus | 1.0% | 1/100 |
| Periventricular cysts | 1.0% | 1/100 |
| Small pituitary gland | 1.0% | 1/100 |
| Stroke | 1.0% | 1/100 |
| Subcortical white matter calcifications | 1.0% | 1/100 |
| Venous thrombosis | 1.0% | 1/100 |
| Wide anterior fontanel | 1.0% | 1/100 |
| Facial abnormalities | ||
| Abnormality of the ear | 58.5% | 69/118 |
| Low-set ears | 33.9% | 40/118 |
| Large fleshy ears | 7.6% | 9/118 |
| Auricular tag | 3.4% | 4/118 |
| Prominent ear helix | 3.4% | 4/118 |
| Abnormal pinna morphology | 2.5% | 3/118 |
| Hearing impairment | 2.5% | 3/118 |
| obsolete Low-set, posteriorly rotated ears | 2.5% | 3/118 |
| Abnormality of the outer ear | 1.7% | 2/118 |
| Bilateral sensorineural hearing impairment | 1.7% | 2/118 |
| Chronic otitis media | 1.7% | 2/118 |
| Protruding ear | 1.7% | 2/118 |
| Abnormality of inferior crus of antihelix | 0.8% | 1/118 |
| Abnormal earlobe morphology | 0.8% | 1/118 |
| Abnormally large globe | 0.8% | 1/118 |
| Abnormal tympanic membrane morphology | 0.8% | 1/118 |
| Auricular pit | 0.8% | 1/118 |
| Blocked Eustachian tube | 0.8% | 1/118 |
| Cupped ear | 0.8% | 1/118 |
| Large earlobe | 0.8% | 1/118 |
| Long ear | 0.8% | 1/118 |
| Narrow palpebral fissure | 0.8% | 1/118 |
| Overfolding of the superior helices | 0.8% | 1/118 |
| Posteriorly rotated ears | 0.8% | 1/118 |
| Preauricular pit | 0.8% | 1/118 |
| Primitive reflex | 0.8% | 1/118 |
| Prominent nasolabial fold | 0.8% | 1/118 |
| Prominent crus of helix | 0.8% | 1/118 |
| Recurrent otitis media | 0.8% | 1/118 |
| Short columella | 0.8% | 1/118 |
| Small earlobe | 0.8% | 1/118 |
| Stenosis of the external auditory canal | 0.8% | 1/118 |
| Uplifted earlobe | 0.8% | 1/118 |
| Vertical forehead creases | 0.8% | 1/118 |
| Abnormality of the eye | 90.8% | 109/120 |
| Long eyelashes | 40.0% | 48/120 |
| Thick eyebrow | 35.8% | 43/120 |
| Abnormally large globe | 22.5% | 27/120 |
| Hypertelorism | 19.2% | 23/120 |
| Downslanted palpebral fissures | 15.0% | 18/120 |
| Astigmatism | 11.7% | 14/120 |
| Strabismus | 11.7% | 14/120 |
| Highly arched eyebrow | 10.0% | 12/120 |
| Cerebral visual impairment | 8.3% | 10/120 |
| Deeply set eye | 7.5% | 9/120 |
| Myopia | 7.5% | 9/120 |
| Prominent eyelashes | 7.5% | 9/120 |
| Synophrys | 7.5% | 9/120 |
| obsolete Prominent epicanthal folds | 5.8% | 7/120 |
| Exotropia | 5.0% | 6/120 |
| Hypermetropia | 5.0% | 6/120 |
| Amblyopia | 4.2% | 5/120 |
| Anophthalmia | 4.2% | 5/120 |
| Blindness | 4.2% | 5/120 |
| Horizontal eyebrow | 4.2% | 5/120 |
| Long eyebrows | 4.2% | 5/120 |
| Esotropia | 3.3% | 4/120 |
| Hypotelorism | 3.3% | 4/120 |
| Nystagmus | 3.3% | 4/120 |
| Abnormal optic nerve morphology | 2.5% | 3/120 |
| Microphthalmia | 2.5% | 3/120 |
| Monocular strabismus | 2.5% | 3/120 |
| Ptosis | 2.5% | 3/120 |
| Abnormal pupil morphology | 1.7% | 2/120 |
| Abnormality of the palpebral fissures | 1.7% | 2/120 |
| Aplasia/Hypoplasia of the optic nerve | 1.7% | 2/120 |
| High myopia | 1.7% | 2/120 |
| Microcornea | 1.7% | 2/120 |
| Optic nerve aplasia | 1.7% | 2/120 |
| Palpebral edema | 1.7% | 2/120 |
| Abnormal optic disc morphology | 0.8% | 1/120 |
| Abnormal eyelash morphology | 0.8% | 1/120 |
| Abnormal eye morphology | 0.8% | 1/120 |
| Abnormal eyelid morphology | 0.8% | 1/120 |
| Abnormality of corneal size | 0.8% | 1/120 |
| Abnormal lacrimal duct morphology | 0.8% | 1/120 |
| Abnormality of vision | 0.8% | 1/120 |
| Almond-shaped palpebral fissure | 0.8% | 1/120 |
| Aplasia/Hypoplasia affecting the eye | 0.8% | 1/120 |
| Bilateral ptosis | 0.8% | 1/120 |
| Congenital bilateral ptosis | 0.8% | 1/120 |
| Divergence nystagmus | 0.8% | 1/120 |
| Facial asymmetry | 0.8% | 1/120 |
| Focal seizure with eyelid myoclonia | 0.8% | 1/120 |
| Hyperopic astigmatism | 0.8% | 1/120 |
| Keratoconus | 0.8% | 1/120 |
| Lacrimal duct aplasia | 0.8% | 1/120 |
| Long palpebral fissure | 0.8% | 1/120 |
| Low frustration tolerance | 0.8% | 1/120 |
| Medial flaring of the eyebrow | 0.8% | 1/120 |
| Microcephaly | 0.8% | 1/120 |
| Narrow palpebral fissure | 0.8% | 1/120 |
| obsolete Congenital visual impairment | 0.8% | 1/120 |
| Oculomotor apraxia | 0.8% | 1/120 |
| Persistent pupillary membrane | 0.8% | 1/120 |
| Prominent forehead | 0.8% | 1/120 |
| Short palpebral fissure | 0.8% | 1/120 |
| Short columella | 0.8% | 1/120 |
| Tented upper lip vermilion | 0.8% | 1/120 |
| Upslanted palpebral fissure | 0.8% | 1/120 |
| Abnormality of the nose | 80.7% | 88/109 |
| Wide nasal bridge | 41.3% | 45/109 |
| Prominent nasal tip | 30.3% | 33/109 |
| Broad nasal tip | 15.6% | 17/109 |
| Anteverted nares | 11.0% | 12/109 |
| Wide nasal base | 5.5% | 6/109 |
| Short nose | 3.7% | 4/109 |
| Depressed nasal bridge | 2.8% | 3/109 |
| Flared nostrils | 2.8% | 3/109 |
| Abnormal nasal tip morphology | 1.8% | 2/109 |
| Abnormal nasal bridge morphology | 1.8% | 2/109 |
| Bulbous nose | 1.8% | 2/109 |
| Deviated nasal septum | 1.8% | 2/109 |
| Primitive reflex | 1.8% | 2/109 |
| Abnormal morphology of the nasal alae | 0.9% | 1/109 |
| Broad columella | 0.9% | 1/109 |
| Increased size of nasopharyngeal adenoids | 0.9% | 1/109 |
| Narrow nasal bridge | 0.9% | 1/109 |
| obsolete Large beaked nose | 0.9% | 1/109 |
| obsolete Thin anteverted nares | 0.9% | 1/109 |
| Short columella | 0.9% | 1/109 |
| Short nasal bridge | 0.9% | 1/109 |
| Thick nasal alae | 0.9% | 1/109 |
| Wide nose | 0.9% | 1/109 |
| Abnormality of the mouth | 83.2% | 94/113 |
| High palate | 23.0% | 26/113 |
| Thin upper lip vermilion | 15.9% | 18/113 |
| Abnormality of upper lip vermillion | 11.5% | 13/113 |
| Short philtrum | 11.5% | 13/113 |
| Micrognathia | 10.6% | 12/113 |
| Long philtrum | 9.7% | 11/113 |
| Drooling | 8.0% | 9/113 |
| Broad philtrum | 5.3% | 6/113 |
| Tented philtrum | 5.3% | 6/113 |
| Tented upper lip vermilion | 5.3% | 6/113 |
| Widely spaced teeth | 5.3% | 6/113 |
| Ankyloglossia | 4.4% | 5/113 |
| Full cheeks | 4.4% | 5/113 |
| Abnormality of the tongue | 3.5% | 4/113 |
| Bruxism | 3.5% | 4/113 |
| High, narrow palate | 3.5% | 4/113 |
| Macrodontia | 3.5% | 4/113 |
| Narrow palate | 3.5% | 4/113 |
| Retrognathia | 3.5% | 4/113 |
| Thin vermilion border | 3.5% | 4/113 |
| Wide mouth | 3.5% | 4/113 |
| Abnormality of the philtrum | 2.7% | 3/113 |
| Deep philtrum | 2.7% | 3/113 |
| Microretrognathia | 2.7% | 3/113 |
| Short chin | 2.7% | 3/113 |
| Smooth philtrum | 2.7% | 3/113 |
| Thick upper lip vermilion | 2.7% | 3/113 |
| Abnormal lip morphology | 1.8% | 2/113 |
| Carious teeth | 1.8% | 2/113 |
| Coarse facial features | 1.8% | 2/113 |
| Delayed eruption of primary teeth | 1.8% | 2/113 |
| Dental malocclusion | 1.8% | 2/113 |
| Gingival overgrowth | 1.8% | 2/113 |
| Irregularly spaced teeth | 1.8% | 2/113 |
| Macroglossia | 1.8% | 2/113 |
| Pursed lips | 1.8% | 2/113 |
| Abnormality of mouth shape | 0.9% | 1/113 |
| Abnormality of the dentition | 0.9% | 1/113 |
| Abnormal oral frenulum morphology | 0.9% | 1/113 |
| Abnormality of molar | 0.9% | 1/113 |
| Abnormal dental root morphology | 0.9% | 1/113 |
| Abnormality of dental eruption | 0.9% | 1/113 |
| Abnormal upper lip morphology | 0.9% | 1/113 |
| Abnormality of the gingiva | 0.9% | 1/113 |
| Agenesis of molar | 0.9% | 1/113 |
| Bifid uvula | 0.9% | 1/113 |
| Compensatory chin elevation | 0.9% | 1/113 |
| Crowded maxillary incisors | 0.9% | 1/113 |
| Dental crowding | 0.9% | 1/113 |
| Diastema | 0.9% | 1/113 |
| Double tooth | 0.9% | 1/113 |
| Downturned corners of mouth | 0.9% | 1/113 |
| Excessive salivation | 0.9% | 1/113 |
| Facial hypotonia | 0.9% | 1/113 |
| Horizontal eyebrow | 0.9% | 1/113 |
| Hypoplasia of teeth | 0.9% | 1/113 |
| Increased overbite | 0.9% | 1/113 |
| Long upper lip | 0.9% | 1/113 |
| Macrodontia of permanent maxillary central incisor | 0.9% | 1/113 |
| Open mouth | 0.9% | 1/113 |
| Persistence of primary teeth | 0.9% | 1/113 |
| Pointed chin | 0.9% | 1/113 |
| Poor suck | 0.9% | 1/113 |
| Premature loss of permanent teeth | 0.9% | 1/113 |
| Tongue muscle weakness | 0.9% | 1/113 |
| Tongue thrusting | 0.9% | 1/113 |
| Tooth malposition | 0.9% | 1/113 |
| Torticollis | 0.9% | 1/113 |
| Visual and hearing impairments | ||
| Abnormal hearing | 30.8% | 28/91 |
| Hearing impairment | 15.4% | 14/91 |
| Chronic otitis media | 3.3% | 3/91 |
| Bilateral sensorineural hearing impairment | 2.2% | 2/91 |
| Conductive hearing impairment | 2.2% | 2/91 |
| Mild hearing impairment | 2.2% | 2/91 |
| Recurrent otitis media | 2.2% | 2/91 |
| Bilateral conductive hearing impairment | 1.1% | 1/91 |
| Hearing abnormality | 1.1% | 1/91 |
| Low-set ears | 1.1% | 1/91 |
| Otitis media | 1.1% | 1/91 |
| Sensorineural hearing impairment | 1.1% | 1/91 |
| Stenosis of the Eustachian tube | 1.1% | 1/91 |
| Unilateral deafness | 1.1% | 1/91 |
| Abnormal vision | 76.4% | 81/106 |
| Astigmatism | 31.1% | 33/106 |
| Myopia | 19.8% | 21/106 |
| Strabismus | 16.0% | 17/106 |
| Cerebral visual impairment | 13.2% | 14/106 |
| Exotropia | 8.5% | 9/106 |
| Amblyopia | 7.5% | 8/106 |
| Blindness | 6.6% | 7/106 |
| Esotropia | 5.7% | 6/106 |
| Hypermetropia | 5.7% | 6/106 |
| Nystagmus | 4.7% | 5/106 |
| Abnormality of vision | 3.8% | 4/106 |
| Anophthalmia | 3.8% | 4/106 |
| Visual impairment | 3.8% | 4/106 |
| Anisometropia | 2.8% | 3/106 |
| Hyperopic astigmatism | 2.8% | 3/106 |
| Abnormal optic disc morphology | 1.9% | 2/106 |
| Abnormal optic nerve morphology | 1.9% | 2/106 |
| High myopia | 1.9% | 2/106 |
| Hypertelorism | 1.9% | 2/106 |
| Optic atrophy | 1.9% | 2/106 |
| Optic disc pallor | 1.9% | 2/106 |
| Optic nerve aplasia | 1.9% | 2/106 |
| Ptosis | 1.9% | 2/106 |
| Abnormal fundus morphology | 0.9% | 1/106 |
| Aplasia/Hypoplasia of the optic nerve | 0.9% | 1/106 |
| Chorioretinal hyperpigmentation | 0.9% | 1/106 |
| Extension of hair growth on temples to lateral eyebrow | 0.9% | 1/106 |
| Gaze-evoked nystagmus | 0.9% | 1/106 |
| Impaired convergence | 0.9% | 1/106 |
| Microphthalmia | 0.9% | 1/106 |
| Monocular strabismus | 0.9% | 1/106 |
| obsolete Congenital visual impairment | 0.9% | 1/106 |
| Oculomotor apraxia | 0.9% | 1/106 |
| Optic neuropathy | 0.9% | 1/106 |
| Retinal coloboma | 0.9% | 1/106 |
| Visual loss | 0.9% | 1/106 |
| Heart | ||
| Abnormality of the heart | 63.4% | 78/123 |
| Prolonged QT interval | 14.6% | 18/123 |
| Hypertrophic cardiomyopathy | 10.6% | 13/123 |
| Cardiac arrest | 8.1% | 10/123 |
| Atrial septal defect | 7.3% | 9/123 |
| Heart murmur | 7.3% | 9/123 |
| Ventricular septal defect | 7.3% | 9/123 |
| Tachycardia | 6.5% | 8/123 |
| Primum atrial septal defect | 5.7% | 7/123 |
| Left ventricular hypertrophy | 4.9% | 6/123 |
| Patent ductus arteriosus | 4.9% | 6/123 |
| Right ventricular hypertrophy | 4.9% | 6/123 |
| Bicuspid aortic valve | 4.1% | 5/123 |
| Cardiomegaly | 4.1% | 5/123 |
| Patent foramen ovale | 4.1% | 5/123 |
| Supraventricular tachycardia | 4.1% | 5/123 |
| Pulmonary arterial hypertension | 3.3% | 4/123 |
| Ventricular hypertrophy | 3.3% | 4/123 |
| Asymmetric septal hypertrophy | 2.4% | 3/123 |
| Atrial fibrillation | 2.4% | 3/123 |
| Bradycardia | 2.4% | 3/123 |
| Cardiomyopathy | 2.4% | 3/123 |
| Pulmonary artery stenosis | 2.4% | 3/123 |
| Sudden cardiac death | 2.4% | 3/123 |
| Abnormal left ventricular outflow tract morphology | 1.6% | 2/123 |
| Abnormal atrial septum morphology | 1.6% | 2/123 |
| Arrhythmia | 1.6% | 2/123 |
| Arterial stenosis | 1.6% | 2/123 |
| Complete right bundle branch block | 1.6% | 2/123 |
| Episodic fatigue | 1.6% | 2/123 |
| Mitral regurgitation | 1.6% | 2/123 |
| Pericardial effusion | 1.6% | 2/123 |
| Perimembranous ventricular septal defect | 1.6% | 2/123 |
| Secundum atrial septal defect | 1.6% | 2/123 |
| Subvalvular aortic stenosis | 1.6% | 2/123 |
| Ventricular septal hypertrophy | 1.6% | 2/123 |
| Abnormal aortic valve morphology | 0.8% | 1/123 |
| Abnormal thrombosis | 0.8% | 1/123 |
| Abnormal left ventricular function | 0.8% | 1/123 |
| Abnormal pulmonary valve morphology | 0.8% | 1/123 |
| Abnormal mitral valve morphology | 0.8% | 1/123 |
| Abnormal tricuspid valve morphology | 0.8% | 1/123 |
| Abnormal vena cava morphology | 0.8% | 1/123 |
| Abnormal aortic morphology | 0.8% | 1/123 |
| Anomalous muscle bundle of the right ventricle | 0.8% | 1/123 |
| Aortic root aneurysm | 0.8% | 1/123 |
| Atrial arrhythmia | 0.8% | 1/123 |
| Atrial septal dilatation | 0.8% | 1/123 |
| Bundle branch block | 0.8% | 1/123 |
| Congenital laryngeal stridor | 0.8% | 1/123 |
| Dilated cardiomyopathy | 0.8% | 1/123 |
| Left superior vena cava draining to coronary sinus | 0.8% | 1/123 |
| Muscular ventricular septal defect | 0.8% | 1/123 |
| obsolete Congenital septal defect | 0.8% | 1/123 |
| obsolete Aortic dilatation | 0.8% | 1/123 |
| Pericarditis | 0.8% | 1/123 |
| Pulmonary artery dilatation | 0.8% | 1/123 |
| Right atrial enlargement | 0.8% | 1/123 |
| Right ventricular dilatation | 0.8% | 1/123 |
| Sinus tachycardia | 0.8% | 1/123 |
| Syncope | 0.8% | 1/123 |
| Tachypnea | 0.8% | 1/123 |
| Tetralogy of Fallot | 0.8% | 1/123 |
| Tetralogy of Fallot with pulmonary stenosis | 0.8% | 1/123 |
| Torsade de pointes | 0.8% | 1/123 |
| Tricuspid regurgitation | 0.8% | 1/123 |
| Ventricular fibrillation | 0.8% | 1/123 |
| Ventricular tachycardia | 0.8% | 1/123 |
| Pulmonary | ||
| Abnormality of the lungs | 62.5% | 20/32 |
| Respiratory distress | 25.0% | 8/32 |
| Neonatal respiratory distress | 12.5% | 4/32 |
| Apnea | 6.3% | 2/32 |
| Asthma | 6.3% | 2/32 |
| Pneumonia | 6.3% | 2/32 |
| Abnormal pulmonary interstitial morphology | 3.1% | 1/32 |
| Aspiration | 3.1% | 1/32 |
| Bronchiolitis obliterans | 3.1% | 1/32 |
| Cyanosis | 3.1% | 1/32 |
| Pulmonary arterial hypertension | 3.1% | 1/32 |
| Recurrent infections due to aspiration | 3.1% | 1/32 |
| Recurrent respiratory infections | 3.1% | 1/32 |
| Respiratory failure requiring assisted ventilation | 3.1% | 1/32 |
| Sleep apnea | 3.1% | 1/32 |
| Tachypnea | 3.1% | 1/32 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 94.0% | 109/116 |
| Feeding difficulties in infancy | 59.5% | 69/116 |
| Feeding difficulties | 43.1% | 50/116 |
| Dysphagia | 22.4% | 26/116 |
| Gastroesophageal reflux | 19.0% | 22/116 |
| Episodic vomiting | 12.1% | 14/116 |
| Gastrostomy tube feeding in infancy | 12.1% | 14/116 |
| Nasogastric tube feeding in infancy | 12.1% | 14/116 |
| Bowel incontinence | 10.3% | 12/116 |
| Chronic constipation | 7.8% | 9/116 |
| Constipation | 7.8% | 9/116 |
| Poor suck | 7.8% | 9/116 |
| Diarrhea | 6.0% | 7/116 |
| Food intolerance | 5.2% | 6/116 |
| Vomiting | 5.2% | 6/116 |
| Esophagitis | 4.3% | 5/116 |
| Abnormal esophagus morphology | 3.4% | 4/116 |
| Gastrointestinal dysmotility | 3.4% | 4/116 |
| Pyloric stenosis | 3.4% | 4/116 |
| Celiac disease | 2.6% | 3/116 |
| Fatigable weakness of swallowing muscles | 2.6% | 3/116 |
| Laryngomalacia | 2.6% | 3/116 |
| obsolete Dysphasia | 2.6% | 3/116 |
| Prolonged neonatal jaundice | 2.6% | 3/116 |
| Recurrent aspiration pneumonia | 2.6% | 3/116 |
| Abdominal pain | 1.7% | 2/116 |
| Abnormality of the gastrointestinal tract | 1.7% | 2/116 |
| Aspiration | 1.7% | 2/116 |
| Decreased body weight | 1.7% | 2/116 |
| Failure to thrive | 1.7% | 2/116 |
| Hepatosplenomegaly | 1.7% | 2/116 |
| Inguinal hernia | 1.7% | 2/116 |
| Oral-pharyngeal dysphagia | 1.7% | 2/116 |
| Poor appetite | 1.7% | 2/116 |
| Abdominal distention | 0.9% | 1/116 |
| Abnormal rectum morphology | 0.9% | 1/116 |
| Aganglionic megacolon | 0.9% | 1/116 |
| Anorectal anomaly | 0.9% | 1/116 |
| Anteriorly placed anus | 0.9% | 1/116 |
| Congenital diaphragmatic hernia | 0.9% | 1/116 |
| Congenital laryngeal stridor | 0.9% | 1/116 |
| Cow milk allergy | 0.9% | 1/116 |
| Drooling | 0.9% | 1/116 |
| Episodic abdominal pain | 0.9% | 1/116 |
| Esophageal stenosis | 0.9% | 1/116 |
| Failure to thrive in infancy | 0.9% | 1/116 |
| Fat malabsorption | 0.9% | 1/116 |
| Graves disease | 0.9% | 1/116 |
| Hepatic cysts | 0.9% | 1/116 |
| Intermittent diarrhea | 0.9% | 1/116 |
| Intussusception | 0.9% | 1/116 |
| Lactose intolerance | 0.9% | 1/116 |
| Long-segment aganglionic megacolon | 0.9% | 1/116 |
| Nausea and vomiting | 0.9% | 1/116 |
| Nausea | 0.9% | 1/116 |
| Pneumonia | 0.9% | 1/116 |
| Projectile vomiting | 0.9% | 1/116 |
| Rectal prolapse | 0.9% | 1/116 |
| Umbilical hernia | 0.9% | 1/116 |
| Urogenital | ||
| Abnormality of the urogenital system | 38.8% | 40/103 |
| Recurrent urinary tract infections | 5.8% | 6/103 |
| Cryptorchidism | 3.9% | 4/103 |
| Hydronephrosis | 2.9% | 3/103 |
| Micropenis | 2.9% | 3/103 |
| Precocious puberty | 2.9% | 3/103 |
| Precocious puberty in females | 2.9% | 3/103 |
| Hypospadias | 1.9% | 2/103 |
| Urinary incontinence | 1.9% | 2/103 |
| Abnormality of the pubic hair | 1.0% | 1/103 |
| Abnormality of the menstrual cycle | 1.0% | 1/103 |
| Abnormal circulating creatine kinase concentration | 1.0% | 1/103 |
| Abnormality of the kidney | 1.0% | 1/103 |
| Abnormal testis morphology | 1.0% | 1/103 |
| Abnormality of the ureter | 1.0% | 1/103 |
| Abnormality of the breast | 1.0% | 1/103 |
| Abnormal male external genitalia morphology | 1.0% | 1/103 |
| Bifid scrotum | 1.0% | 1/103 |
| Clitoral hypertrophy | 1.0% | 1/103 |
| Decreased glomerular filtration rate | 1.0% | 1/103 |
| Dilatation of the renal pelvis | 1.0% | 1/103 |
| Dysmenorrhea | 1.0% | 1/103 |
| Enlarged kidney | 1.0% | 1/103 |
| Fetal pyelectasis | 1.0% | 1/103 |
| Functional abnormality of the bladder | 1.0% | 1/103 |
| Hirsutism | 1.0% | 1/103 |
| Hydrocele testis | 1.0% | 1/103 |
| Hypotension | 1.0% | 1/103 |
| Localized hirsutism | 1.0% | 1/103 |
| Menorrhagia | 1.0% | 1/103 |
| Multiple renal cysts | 1.0% | 1/103 |
| Neurogenic bladder | 1.0% | 1/103 |
| obsolete Hypermenorrhea | 1.0% | 1/103 |
| Polycystic ovaries | 1.0% | 1/103 |
| Premature thelarche | 1.0% | 1/103 |
| Renal cortical cysts | 1.0% | 1/103 |
| Renal duplication | 1.0% | 1/103 |
| Renal artery stenosis | 1.0% | 1/103 |
| Ureter duplex | 1.0% | 1/103 |
| Skeleton | ||
| Skeletal abnormalities | 91.8% | 112/122 |
| Short stature | 28.7% | 35/122 |
| Microcephaly | 23.0% | 28/122 |
| Pectus excavatum | 14.8% | 18/122 |
| Scoliosis | 14.8% | 18/122 |
| obsolete Toe walking | 11.5% | 14/122 |
| Short foot | 11.5% | 14/122 |
| Slender finger | 10.7% | 13/122 |
| Small hand | 9.8% | 12/122 |
| Pes planus | 9.0% | 11/122 |
| Hip dysplasia | 8.2% | 10/122 |
| Mild short stature | 7.4% | 9/122 |
| Delayed closure of the anterior fontanelle | 6.6% | 8/122 |
| Gait disturbance | 6.6% | 8/122 |
| Tapered finger | 5.7% | 7/122 |
| Broad toe | 4.9% | 6/122 |
| Generalized hypotonia | 4.9% | 6/122 |
| Large fontanelles | 4.9% | 6/122 |
| Neonatal hypotonia | 4.9% | 6/122 |
| Clinodactyly | 4.1% | 5/122 |
| Slender build | 4.1% | 5/122 |
| Achilles tendon contracture | 3.3% | 4/122 |
| Broad forehead | 3.3% | 4/122 |
| Clinodactyly of the 5th finger | 3.3% | 4/122 |
| Sacral dimple | 3.3% | 4/122 |
| Torticollis | 3.3% | 4/122 |
| 2-3 toe syndactyly | 3.3% | 4/122 |
| Abnormal cranial suture/fontanelle morphology | 2.5% | 3/122 |
| Acetabular dysplasia | 2.5% | 3/122 |
| Axial hypotonia | 2.5% | 3/122 |
| Barrel-shaped chest | 2.5% | 3/122 |
| Inability to walk | 2.5% | 3/122 |
| Joint hypermobility | 2.5% | 3/122 |
| Plagiocephaly | 2.5% | 3/122 |
| Postnatal growth retardation | 2.5% | 3/122 |
| Prominent forehead | 2.5% | 3/122 |
| Abnormal hip joint morphology | 1.6% | 2/122 |
| Abnormal long bone morphology | 1.6% | 2/122 |
| Abnormal fontanelle morphology | 1.6% | 2/122 |
| Abnormal muscle tone | 1.6% | 2/122 |
| Absent palmar crease | 1.6% | 2/122 |
| Appendicular hypotonia | 1.6% | 2/122 |
| Bilateral talipes equinovarus | 1.6% | 2/122 |
| Broad distal phalanx of the toes | 1.6% | 2/122 |
| Clubbing of toes | 1.6% | 2/122 |
| Craniosynostosis | 1.6% | 2/122 |
| Cutis marmorata | 1.6% | 2/122 |
| Floppy infant | 1.6% | 2/122 |
| Full cheeks | 1.6% | 2/122 |
| Hydrocephalus | 1.6% | 2/122 |
| Hyperextensibility of the finger joints | 1.6% | 2/122 |
| Increased femoral anteversion | 1.6% | 2/122 |
| Kyphosis | 1.6% | 2/122 |
| Limb hypertonia | 1.6% | 2/122 |
| Lumbar kyphosis | 1.6% | 2/122 |
| Narrow foot | 1.6% | 2/122 |
| Overlapping toe | 1.6% | 2/122 |
| Pectus carinatum | 1.6% | 2/122 |
| Prominent fingertip pads | 1.6% | 2/122 |
| Sandal gap | 1.6% | 2/122 |
| Short toe | 1.6% | 2/122 |
| Short chin | 1.6% | 2/122 |
| Single transverse palmar crease | 1.6% | 2/122 |
| Small finger | 1.6% | 2/122 |
| Supernumerary ribs | 1.6% | 2/122 |
| Toe syndactyly | 1.6% | 2/122 |
| 2-4 finger cutaneous syndactyly | 1.6% | 2/122 |
| 3-4 finger osseus syndactyly | 1.6% | 2/122 |
| Abnormal occipital bone morphology | 0.8% | 1/122 |
| Abnormal thorax morphology | 0.8% | 1/122 |
| Abnormal thumb morphology | 0.8% | 1/122 |
| Abnormal finger morphology | 0.8% | 1/122 |
| Abnormal zygomatic arch morphology | 0.8% | 1/122 |
| Abnormality of the musculature | 0.8% | 1/122 |
| Abnormality of movement | 0.8% | 1/122 |
| Abnormal fibula morphology | 0.8% | 1/122 |
| Abnormality of the palmar creases | 0.8% | 1/122 |
| Abnormal pelvic girdle bone morphology | 0.8% | 1/122 |
| Abnormal number of vertebrae | 0.8% | 1/122 |
| Abnormal rib morphology | 0.8% | 1/122 |
| Abnormality of the cervical spine | 0.8% | 1/122 |
| Ankle clonus | 0.8% | 1/122 |
| Anterior beaking of lumbar vertebrae | 0.8% | 1/122 |
| Brachycephaly | 0.8% | 1/122 |
| Brisk reflexes | 0.8% | 1/122 |
| Broad-based gait | 0.8% | 1/122 |
| Broad distal phalanx of finger | 0.8% | 1/122 |
| Camptodactyly | 0.8% | 1/122 |
| Camptodactyly of finger | 0.8% | 1/122 |
| Childhood onset short-limb short stature | 0.8% | 1/122 |
| Clinodactyly of the 5th toe | 0.8% | 1/122 |
| Clinodactyly of the 2nd toe | 0.8% | 1/122 |
| Coxa valga | 0.8% | 1/122 |
| Deep palmar crease | 0.8% | 1/122 |
| Dolichocephaly | 0.8% | 1/122 |
| Dysharmonic delayed bone age | 0.8% | 1/122 |
| Dysphagia | 0.8% | 1/122 |
| Enlarged joints | 0.8% | 1/122 |
| Equinovarus deformity | 0.8% | 1/122 |
| Finger syndactyly | 0.8% | 1/122 |
| Frequent falls | 0.8% | 1/122 |
| Frontal bossing | 0.8% | 1/122 |
| Gait imbalance | 0.8% | 1/122 |
| Gait ataxia | 0.8% | 1/122 |
| Generalized neonatal hypotonia | 0.8% | 1/122 |
| Hallux varus | 0.8% | 1/122 |
| Hemihypertrophy | 0.8% | 1/122 |
| Hip dislocation | 0.8% | 1/122 |
| Hyperactive deep tendon reflexes | 0.8% | 1/122 |
| Hyperreflexia | 0.8% | 1/122 |
| Hypoplastic nipples | 0.8% | 1/122 |
| Hypoplastic fifth toenail | 0.8% | 1/122 |
| Inguinal hernia | 0.8% | 1/122 |
| Lumbar scoliosis | 0.8% | 1/122 |
| Lumbar hyperlordosis | 0.8% | 1/122 |
| Macrocephaly | 0.8% | 1/122 |
| Marked delay in bone age | 0.8% | 1/122 |
| Medial rotation of the medial malleolus | 0.8% | 1/122 |
| Metatarsus valgus | 0.8% | 1/122 |
| Metopic synostosis | 0.8% | 1/122 |
| Mild microcephaly | 0.8% | 1/122 |
| Mild postnatal growth retardation | 0.8% | 1/122 |
| Multiple joint contractures | 0.8% | 1/122 |
| Muscle stiffness | 0.8% | 1/122 |
| Myoclonus | 0.8% | 1/122 |
| Neonatal respiratory distress | 0.8% | 1/122 |
| Osteopenia | 0.8% | 1/122 |
| Osteoporosis | 0.8% | 1/122 |
| Pectus excavatum of inferior sternum | 0.8% | 1/122 |
| Pes cavus | 0.8% | 1/122 |
| Radial deviation of thumb terminal phalanx | 0.8% | 1/122 |
| Recurrent fractures | 0.8% | 1/122 |
| Retrognathia | 0.8% | 1/122 |
| Rhizo-meso-acromelic limb shortening | 0.8% | 1/122 |
| Scapular winging | 0.8% | 1/122 |
| Severe short-limb dwarfism | 0.8% | 1/122 |
| Short finger | 0.8% | 1/122 |
| Short neck | 0.8% | 1/122 |
| Short lower limbs | 0.8% | 1/122 |
| Small toe | 0.8% | 1/122 |
| Spastic paraplegia | 0.8% | 1/122 |
| Spina bifida occulta | 0.8% | 1/122 |
| Superior pectus carinatum | 0.8% | 1/122 |
| Talipes | 0.8% | 1/122 |
| Talipes equinovarus | 0.8% | 1/122 |
| Thoracolumbar kyphoscoliosis | 0.8% | 1/122 |
| Thoracic kyphosis | 0.8% | 1/122 |
| Vertebral compression fracture | 0.8% | 1/122 |
| Widely spaced toes | 0.8% | 1/122 |
| Wormian bones | 0.8% | 1/122 |
| 2-3 finger cutaneous syndactyly | 0.8% | 1/122 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 72.5% | 79/109 |
| Mottled pigmentation | 25.7% | 28/109 |
| Hirsutism | 19.3% | 21/109 |
| Eczematoid dermatitis | 9.2% | 10/109 |
| Sparse anterior scalp hair | 9.2% | 10/109 |
| Coarse hair | 8.3% | 9/109 |
| Acne | 4.6% | 5/109 |
| Dry skin | 4.6% | 5/109 |
| Low anterior hairline | 4.6% | 5/109 |
| Prominent fingertip pads | 4.6% | 5/109 |
| Excessive wrinkled skin | 3.7% | 4/109 |
| Thin skin | 3.7% | 4/109 |
| Fair hair | 2.8% | 3/109 |
| Cutis marmorata | 1.8% | 2/109 |
| Facial hirsutism | 1.8% | 2/109 |
| Hyperextensible skin | 1.8% | 2/109 |
| Thick hair | 1.8% | 2/109 |
| Abnormal hair whorl | 0.9% | 1/109 |
| Abnormal fingernail morphology | 0.9% | 1/109 |
| Abnormality of the frontal hairline | 0.9% | 1/109 |
| Abnormal elasticity of skin | 0.9% | 1/109 |
| Abnormal bleeding | 0.9% | 1/109 |
| Alopecia | 0.9% | 1/109 |
| Aplasia/Hypoplasia of the nipples | 0.9% | 1/109 |
| Atopic dermatitis | 0.9% | 1/109 |
| Auricular tag | 0.9% | 1/109 |
| Brittle hair | 0.9% | 1/109 |
| Broad forehead | 0.9% | 1/109 |
| Bruising susceptibility | 0.9% | 1/109 |
| Cephalohematoma | 0.9% | 1/109 |
| Coarse facial features | 0.9% | 1/109 |
| Cutis laxa | 0.9% | 1/109 |
| Dry hair | 0.9% | 1/109 |
| Facial hemangioma | 0.9% | 1/109 |
| Frontal hirsutism | 0.9% | 1/109 |
| Generalized hirsutism | 0.9% | 1/109 |
| Hypertrichosis | 0.9% | 1/109 |
| Hypoplastic toenails | 0.9% | 1/109 |
| Low posterior hairline | 0.9% | 1/109 |
| Nevus | 0.9% | 1/109 |
| Nevus flammeus | 0.9% | 1/109 |
| obsolete Eczematoid dermatitis | 0.9% | 1/109 |
| obsolete Decreased subcutaneous fat | 0.9% | 1/109 |
| Prominent nipples | 0.9% | 1/109 |
| Short foot | 0.9% | 1/109 |
| Single transverse palmar crease | 0.9% | 1/109 |
| Skin rash | 0.9% | 1/109 |
| Skin-picking | 0.9% | 1/109 |
| Slender build | 0.9% | 1/109 |
| Sparse hair | 0.9% | 1/109 |
| Sparse body hair | 0.9% | 1/109 |
| Sparse scalp hair | 0.9% | 1/109 |
| Supernumerary nipple | 0.9% | 1/109 |
| Telangiectases producing 'marbled' skin | 0.9% | 1/109 |
| 3-4 finger osseus syndactyly | 0.9% | 1/109 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 40.9% | 36/88 |
| Hirsutism | 15.9% | 14/88 |
| Precocious puberty | 5.7% | 5/88 |
| Precocious puberty in females | 3.4% | 3/88 |
| Decreased response to growth hormone stimulation test | 2.3% | 2/88 |
| Hypoglycemia | 2.3% | 2/88 |
| Premature thelarche | 2.3% | 2/88 |
| Abnormality of the pubic hair | 1.1% | 1/88 |
| Abnormal sweat homeostasis | 1.1% | 1/88 |
| Abnormality of temperature regulation | 1.1% | 1/88 |
| Adrenal gland agenesis | 1.1% | 1/88 |
| Adrenocortical abnormality | 1.1% | 1/88 |
| Bowel incontinence | 1.1% | 1/88 |
| Breast hypoplasia | 1.1% | 1/88 |
| Diabetes mellitus | 1.1% | 1/88 |
| Dysmenorrhea | 1.1% | 1/88 |
| Facial hirsutism | 1.1% | 1/88 |
| Fatigue | 1.1% | 1/88 |
| Frontal hirsutism | 1.1% | 1/88 |
| Graves disease | 1.1% | 1/88 |
| Hyperinsulinemia | 1.1% | 1/88 |
| Hypercalcemia | 1.1% | 1/88 |
| Increased serum testosterone level | 1.1% | 1/88 |
| Lactic acidosis | 1.1% | 1/88 |
| Menorrhagia | 1.1% | 1/88 |
| Neonatal hypoglycemia | 1.1% | 1/88 |
| Pituitary dwarfism | 1.1% | 1/88 |
| Premature adrenarche | 1.1% | 1/88 |
| Shield chest | 1.1% | 1/88 |
| Sleep disturbance | 1.1% | 1/88 |
| Urinary incontinence | 1.1% | 1/88 |
| Abnormality of the metabolic system | 84.0% | 89/106 |
| Abnormality of temperature regulation | 28.3% | 30/106 |
| Slender build | 23.6% | 25/106 |
| Sleep disturbance | 22.6% | 24/106 |
| Neonatal respiratory distress | 11.3% | 12/106 |
| Failure to thrive | 9.4% | 10/106 |
| Pneumonia | 9.4% | 10/106 |
| Absence of subcutaneous fat | 5.7% | 6/106 |
| Episodic fatigue | 5.7% | 6/106 |
| Apnea | 4.7% | 5/106 |
| Pica | 4.7% | 5/106 |
| Allergy | 3.8% | 4/106 |
| Asthma | 3.8% | 4/106 |
| Bowel incontinence | 3.8% | 4/106 |
| Bronchiolitis | 3.8% | 4/106 |
| Hypoglycemia | 3.8% | 4/106 |
| Iron deficiency anemia | 3.8% | 4/106 |
| Sleep apnea | 3.8% | 4/106 |
| Dyspnea | 2.8% | 3/106 |
| Failure to thrive in infancy | 2.8% | 3/106 |
| Fatigue | 2.8% | 3/106 |
| Intrauterine growth retardation | 2.8% | 3/106 |
| Neonatal hypoglycemia | 2.8% | 3/106 |
| obsolete Decreased subcutaneous fat | 2.8% | 3/106 |
| Abnormal onset of bleeding | 1.9% | 2/106 |
| Abnormal pulmonary interstitial morphology | 1.9% | 2/106 |
| Abnormality of subcutaneous fat tissue | 1.9% | 2/106 |
| Breathing dysregulation | 1.9% | 2/106 |
| Bruising susceptibility | 1.9% | 2/106 |
| Chronic fatigue | 1.9% | 2/106 |
| Cyanotic episode | 1.9% | 2/106 |
| Cyanosis | 1.9% | 2/106 |
| Decreased body weight | 1.9% | 2/106 |
| Easy fatigability | 1.9% | 2/106 |
| Epistaxis | 1.9% | 2/106 |
| Hypertension | 1.9% | 2/106 |
| Hyperbilirubinemia | 1.9% | 2/106 |
| Neonatal hyperbilirubinemia | 1.9% | 2/106 |
| Prolonged neonatal jaundice | 1.9% | 2/106 |
| Recurrent upper respiratory tract infections | 1.9% | 2/106 |
| Red desaturation | 1.9% | 2/106 |
| Respiratory failure requiring assisted ventilation | 1.9% | 2/106 |
| Tachypnea | 1.9% | 2/106 |
| Abnormality of blood circulation | 0.9% | 1/106 |
| Abnormal sweat homeostasis | 0.9% | 1/106 |
| Abnormality of the spleen | 0.9% | 1/106 |
| Abnormality of vitamin D metabolism | 0.9% | 1/106 |
| Abnormality of pain sensation | 0.9% | 1/106 |
| Abnormal thrombosis | 0.9% | 1/106 |
| Anemia | 0.9% | 1/106 |
| Ankle swelling | 0.9% | 1/106 |
| Aspiration | 0.9% | 1/106 |
| Aspiration pneumonia | 0.9% | 1/106 |
| Bleeding with minor or no trauma | 0.9% | 1/106 |
| Blood group antigen abnormality | 0.9% | 1/106 |
| Bronchomalacia | 0.9% | 1/106 |
| Cardiorespiratory arrest | 0.9% | 1/106 |
| Cellulitis | 0.9% | 1/106 |
| Cough | 0.9% | 1/106 |
| Death in infancy | 0.9% | 1/106 |
| Decreased circulating carnitine concentration | 0.9% | 1/106 |
| Duplication of renal pelvis | 0.9% | 1/106 |
| Edema | 0.9% | 1/106 |
| Elevated circulating alkaline phosphatase concentration | 0.9% | 1/106 |
| Episodic tachypnea | 0.9% | 1/106 |
| Growth delay | 0.9% | 1/106 |
| Hydronephrosis | 0.9% | 1/106 |
| Hypertriglyceridemia | 0.9% | 1/106 |
| Hypermagnesemia | 0.9% | 1/106 |
| Hypercoagulability | 0.9% | 1/106 |
| Hyperhidrosis | 0.9% | 1/106 |
| Hypernatremic dehydration | 0.9% | 1/106 |
| Hypercalcemia | 0.9% | 1/106 |
| Hyperinsulinemia | 0.9% | 1/106 |
| Hyperlipidemia | 0.9% | 1/106 |
| Hypoalbuminemia | 0.9% | 1/106 |
| Impaired pain sensation | 0.9% | 1/106 |
| Insomnia | 0.9% | 1/106 |
| Laryngotracheomalacia | 0.9% | 1/106 |
| Lethargy | 0.9% | 1/106 |
| Meconium stained amniotic fluid | 0.9% | 1/106 |
| Migraine | 0.9% | 1/106 |
| Multiple lipomas | 0.9% | 1/106 |
| Neonatal breathing dysregulation | 0.9% | 1/106 |
| obsolete Decreased pulmonary function | 0.9% | 1/106 |
| obsolete Infantile hypercalcemia | 0.9% | 1/106 |
| obsolete Impaired thermal sensitivity | 0.9% | 1/106 |
| Obstructive sleep apnea | 0.9% | 1/106 |
| Omphalocele | 0.9% | 1/106 |
| Pain insensitivity | 0.9% | 1/106 |
| Pleural lymphangiectasia | 0.9% | 1/106 |
| Postnatal growth retardation | 0.9% | 1/106 |
| Prolonged bleeding following procedure | 0.9% | 1/106 |
| Pulmonary fibrosis | 0.9% | 1/106 |
| Pulmonary arterial hypertension | 0.9% | 1/106 |
| Pulmonary lymphangiectasia | 0.9% | 1/106 |
| Pulmonary hypoplasia | 0.9% | 1/106 |
| Recurrent infections | 0.9% | 1/106 |
| Recurrent aspiration pneumonia | 0.9% | 1/106 |
| Recurrent respiratory infections | 0.9% | 1/106 |
| Recurrent fever | 0.9% | 1/106 |
| Respiratory arrest | 0.9% | 1/106 |
| Severe failure to thrive | 0.9% | 1/106 |
| Slender finger | 0.9% | 1/106 |
| Small for gestational age | 0.9% | 1/106 |
| Stridor | 0.9% | 1/106 |
| Temperature instability | 0.9% | 1/106 |
| Tracheobronchomalacia | 0.9% | 1/106 |
| Type II diabetes mellitus | 0.9% | 1/106 |
| Abnormality of the immune system | 31.3% | 25/80 |
| Allergy | 15.0% | 12/80 |
| Cow milk allergy | 7.5% | 6/80 |
| Recurrent respiratory infections | 3.8% | 3/80 |
| Recurrent infections | 2.5% | 2/80 |
| Apnea | 1.3% | 1/80 |
| Chronic otitis media | 1.3% | 1/80 |
| Decreased total leukocyte count | 1.3% | 1/80 |
| Easy fatigability | 1.3% | 1/80 |
| Fatigue | 1.3% | 1/80 |
| Food intolerance | 1.3% | 1/80 |
| Neonatal sepsis | 1.3% | 1/80 |
| Otitis media | 1.3% | 1/80 |
| Recurrent pneumonia | 1.3% | 1/80 |
| Recurrent otitis media | 1.3% | 1/80 |
| Recurrent fever | 1.3% | 1/80 |
| Unexplained fevers | 1.3% | 1/80 |
| Velopharyngeal insufficiency | 1.3% | 1/80 |
| Neoplasia | ||
| Neoplasia | 3.2% | 4/125 |
| Abnormal mediastinum morphology | 0.8% | 1/125 |
| Abnormal parotid gland morphology | 0.8% | 1/125 |
| Brain neoplasm | 0.8% | 1/125 |
| Leukemia | 0.8% | 1/125 |
| Medulloblastoma | 0.8% | 1/125 |