TAF1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 90.7% | 39/43 |
| Female | 9.3% | 4/43 |
| Indifferent | 0% | 0/43 |
| Unknown | 0% | 0/43 |
| General | ||
| Birth Length abnormalities | 22.2% | 10/45 |
| < P3 : Birth length less than 3rd percentile | 22.2% | 10/45 |
| Birth Weight abnormalities | 22.2% | 10/45 |
| < P3 : Small for gestational age | 22.2% | 10/45 |
| Birth Head circumference abnormalities | 22.2% | 10/45 |
| < P3 : Congenital microcephaly | 20.0% | 9/45 |
| > P98 : Macrocephaly at birth | 2.2% | 1/45 |
| Current Height abnormalities | 26.7% | 12/45 |
| < P3 : Short stature | 26.7% | 12/45 |
| Current Weight abnormalities | 20.0% | 9/45 |
| < P3 : Decreased body weight | 20.0% | 9/45 |
| Current Head circumference abnormalities | 56.8% | 25/44 |
| < P3 : Microcephaly | 54.5% | 24/44 |
| > P98 : Macrocephaly | 2.3% | 1/44 |
| Neurology | ||
| Neurological abnormalities | 97.7% | 42/43 |
| Global developmental delay | 44.2% | 19/43 |
| Motor delay | 41.9% | 18/43 |
| Generalized hypotonia | 39.5% | 17/43 |
| Delayed speech and language development | 34.9% | 15/43 |
| Seizures | 25.6% | 11/43 |
| Gait disturbance | 16.3% | 7/43 |
| Intellectual disability, severe | 16.3% | 7/43 |
| Delayed fine motor development | 14.0% | 6/43 |
| Absent speech | 11.6% | 5/43 |
| Moderate global developmental delay | 11.6% | 5/43 |
| Intellectual disability, mild | 9.3% | 4/43 |
| Intellectual disability | 9.3% | 4/43 |
| Growth delay | 7.0% | 3/43 |
| Intellectual disability, profound | 7.0% | 3/43 |
| Intellectual disability, moderate | 7.0% | 3/43 |
| Unsteady gait | 7.0% | 3/43 |
| Aplasia/Hypoplasia of the corpus callosum | 4.7% | 2/43 |
| Autistic behavior | 4.7% | 2/43 |
| Developmental regression | 4.7% | 2/43 |
| Gait imbalance | 4.7% | 2/43 |
| Hydrocephalus | 4.7% | 2/43 |
| Mild global developmental delay | 4.7% | 2/43 |
| Moderate postnatal growth retardation | 4.7% | 2/43 |
| Muscular hypotonia | 4.7% | 2/43 |
| Plagiocephaly | 4.7% | 2/43 |
| Poor fine motor coordination | 4.7% | 2/43 |
| Severe global developmental delay | 4.7% | 2/43 |
| Abnormal muscle tone | 2.3% | 1/43 |
| Abnormality of mucopolysaccharide metabolism | 2.3% | 1/43 |
| Abnormality of joint mobility | 2.3% | 1/43 |
| Absence seizures | 2.3% | 1/43 |
| Anxiety | 2.3% | 1/43 |
| Ataxia | 2.3% | 1/43 |
| Autism | 2.3% | 1/43 |
| Central hypotonia | 2.3% | 1/43 |
| Cortical gyral simplification | 2.3% | 1/43 |
| Drooling | 2.3% | 1/43 |
| Facial hypotonia | 2.3% | 1/43 |
| Failure to thrive in infancy | 2.3% | 1/43 |
| Febrile seizures | 2.3% | 1/43 |
| Finger joint hypermobility | 2.3% | 1/43 |
| Frontal venous angioma | 2.3% | 1/43 |
| Generalized joint laxity | 2.3% | 1/43 |
| Generalized seizures | 2.3% | 1/43 |
| Hyperactive deep tendon reflexes | 2.3% | 1/43 |
| Hyperkinesis | 2.3% | 1/43 |
| Hypoplasia of the corpus callosum | 2.3% | 1/43 |
| Hypoplasia of the vestibular nerve | 2.3% | 1/43 |
| Impaired visuospatial constructive cognition | 2.3% | 1/43 |
| Increased laxity of fingers | 2.3% | 1/43 |
| Joint hyperflexibility | 2.3% | 1/43 |
| Joint laxity | 2.3% | 1/43 |
| Joint hypermobility | 2.3% | 1/43 |
| Lower limb hypertonia | 2.3% | 1/43 |
| Microcephaly | 2.3% | 1/43 |
| Migraine | 2.3% | 1/43 |
| Mild fetal ventriculomegaly | 2.3% | 1/43 |
| Neurodegeneration | 2.3% | 1/43 |
| Oral aversion | 2.3% | 1/43 |
| Partial absence of the septum pellucidum | 2.3% | 1/43 |
| Poor coordination | 2.3% | 1/43 |
| Profound global developmental delay | 2.3% | 1/43 |
| Progressive spastic quadriplegia | 2.3% | 1/43 |
| Progressive distal muscular atrophy | 2.3% | 1/43 |
| Retrocerebellar cyst | 2.3% | 1/43 |
| Severe expressive language delay | 2.3% | 1/43 |
| Shuffling gait | 2.3% | 1/43 |
| Spastic diplegia | 2.3% | 1/43 |
| Speech articulation difficulties | 2.3% | 1/43 |
| Ventriculomegaly | 2.3% | 1/43 |
| Behavioral problems | 83.8% | 31/37 |
| Absent speech | 35.1% | 13/37 |
| Delayed speech and language development | 27.0% | 10/37 |
| Autistic behavior | 24.3% | 9/37 |
| Autism | 21.6% | 8/37 |
| Recurrent hand flapping | 13.5% | 5/37 |
| Repetitive compulsive behavior | 13.5% | 5/37 |
| Self-injurious behavior | 13.5% | 5/37 |
| Aggressive behavior | 8.1% | 3/37 |
| Intellectual disability, moderate | 8.1% | 3/37 |
| Low frustration tolerance | 8.1% | 3/37 |
| Self-biting | 8.1% | 3/37 |
| Short attention span | 8.1% | 3/37 |
| Anxiety | 5.4% | 2/37 |
| Drooling | 5.4% | 2/37 |
| Global developmental delay | 5.4% | 2/37 |
| Speech apraxia | 5.4% | 2/37 |
| Abnormal aggressive, impulsive or violent behavior | 2.7% | 1/37 |
| Attention deficit hyperactivity disorder | 2.7% | 1/37 |
| Bowel incontinence | 2.7% | 1/37 |
| Bruxism | 2.7% | 1/37 |
| Delayed social development | 2.7% | 1/37 |
| Developmental regression | 2.7% | 1/37 |
| Echolalia | 2.7% | 1/37 |
| Epileptiform EEG discharges | 2.7% | 1/37 |
| Intellectual disability | 2.7% | 1/37 |
| Irritability | 2.7% | 1/37 |
| Mood swings | 2.7% | 1/37 |
| Mood changes | 2.7% | 1/37 |
| Poor eye contact | 2.7% | 1/37 |
| Restrictive behavior | 2.7% | 1/37 |
| Self-mutilation | 2.7% | 1/37 |
| Sensory impairment | 2.7% | 1/37 |
| Sleep disturbance | 2.7% | 1/37 |
| Sleep apnea | 2.7% | 1/37 |
| Specific learning disability | 2.7% | 1/37 |
| Speech articulation difficulties | 2.7% | 1/37 |
| Stereotypic behavior | 2.7% | 1/37 |
| Violent behavior | 2.7% | 1/37 |
| Brain abnormality | 78.1% | 25/32 |
| Microcephaly | 18.8% | 6/32 |
| Aplasia/Hypoplasia of the corpus callosum | 15.6% | 5/32 |
| Ventriculomegaly | 15.6% | 5/32 |
| Abnormal myelination | 9.4% | 3/32 |
| Abnormality of the cerebral ventricles | 9.4% | 3/32 |
| Hypoplasia of the corpus callosum | 9.4% | 3/32 |
| Abnormality of the periventricular white matter | 6.3% | 2/32 |
| Absent septum pellucidum | 6.3% | 2/32 |
| Abnormal CNS myelination | 3.1% | 1/32 |
| Abnormality of the cerebral white matter | 3.1% | 1/32 |
| Agenesis of corpus callosum | 3.1% | 1/32 |
| Agenesis of cerebellar vermis | 3.1% | 1/32 |
| Aplasia/Hypoplasia of the optic nerve | 3.1% | 1/32 |
| Aplasia of the falx cerebri | 3.1% | 1/32 |
| Aplasia/Hypoplasia of the cerebellar vermis | 3.1% | 1/32 |
| Cerebellar gliosis | 3.1% | 1/32 |
| Cerebral white matter atrophy | 3.1% | 1/32 |
| Cerebellar atrophy | 3.1% | 1/32 |
| Cortical gyral simplification | 3.1% | 1/32 |
| Deformed sella turcica | 3.1% | 1/32 |
| Delayed myelination | 3.1% | 1/32 |
| EEG abnormality | 3.1% | 1/32 |
| Enlarged cisterna magna | 3.1% | 1/32 |
| Epidermoid cyst | 3.1% | 1/32 |
| Generalized cerebral atrophy/hypoplasia | 3.1% | 1/32 |
| Hydrocephalus | 3.1% | 1/32 |
| Intraventricular hemorrhage | 3.1% | 1/32 |
| Mild fetal ventriculomegaly | 3.1% | 1/32 |
| Pachygyria | 3.1% | 1/32 |
| Partial absence of the septum pellucidum | 3.1% | 1/32 |
| Polymicrogyria | 3.1% | 1/32 |
| Profound static encephalopathy | 3.1% | 1/32 |
| Punctate periventricular T2 hyperintense foci | 3.1% | 1/32 |
| Retrocerebellar cyst | 3.1% | 1/32 |
| Subcortical white matter calcifications | 3.1% | 1/32 |
| Subependymal cysts | 3.1% | 1/32 |
| White mater abnormalities in the posterior periventricular region | 3.1% | 1/32 |
| Facial abnormalities | ||
| Abnormality of the ear | 76.2% | 32/42 |
| Prominent ear helix | 21.4% | 9/42 |
| Low-set ears | 19.0% | 8/42 |
| Protruding ear | 19.0% | 8/42 |
| Cupped ear | 14.3% | 6/42 |
| Low-set, posteriorly rotated ears | 11.9% | 5/42 |
| Chronic otitis media | 9.5% | 4/42 |
| Bilateral sensorineural hearing impairment | 7.1% | 3/42 |
| Abnormality of the crus of the helix | 4.8% | 2/42 |
| Prominent antihelix | 4.8% | 2/42 |
| Sensorineural hearing impairment | 4.8% | 2/42 |
| Small earlobe | 4.8% | 2/42 |
| Abnormality of the antihelix | 2.4% | 1/42 |
| Anteverted ears | 2.4% | 1/42 |
| Childhood onset sensorineural hearing impairment | 2.4% | 1/42 |
| Hypertelorism | 2.4% | 1/42 |
| Hypoplasia of the antihelix | 2.4% | 1/42 |
| Large earlobe | 2.4% | 1/42 |
| Macrotia | 2.4% | 1/42 |
| Mild neurosensory hearing impairment | 2.4% | 1/42 |
| Profound sensorineural hearing impairment | 2.4% | 1/42 |
| Recurrent otitis media | 2.4% | 1/42 |
| Thickened helices | 2.4% | 1/42 |
| Abnormality of the eye | 90.5% | 38/42 |
| Strabismus | 26.2% | 11/42 |
| Hypertelorism | 23.8% | 10/42 |
| Downslanted palpebral fissures | 21.4% | 9/42 |
| Deeply set eye | 19.0% | 8/42 |
| Thick eyebrow | 19.0% | 8/42 |
| Myopia | 11.9% | 5/42 |
| Abnormality of the lacrimal duct | 9.5% | 4/42 |
| Slanting of the palpebral fissure | 9.5% | 4/42 |
| Bilateral ptosis | 7.1% | 3/42 |
| Highly arched eyebrow | 7.1% | 3/42 |
| Long eyebrows | 7.1% | 3/42 |
| Medial flaring of the eyebrow | 7.1% | 3/42 |
| Oculomotor apraxia | 7.1% | 3/42 |
| Synophrys | 7.1% | 3/42 |
| Nystagmus | 4.8% | 2/42 |
| Abnormality of the palpebral fissures | 2.4% | 1/42 |
| Abnormality of the orbital region | 2.4% | 1/42 |
| Abnormality of the cornea | 2.4% | 1/42 |
| Abnormality of vision | 2.4% | 1/42 |
| Abnormality of the glabella | 2.4% | 1/42 |
| Abnormality of saccadic eye movements | 2.4% | 1/42 |
| Abnormal shape of the palpebral fissure | 2.4% | 1/42 |
| Astigmatism | 2.4% | 1/42 |
| Blepharophimosis | 2.4% | 1/42 |
| Blindness | 2.4% | 1/42 |
| Broad eyebrow | 2.4% | 1/42 |
| Horizontal eyebrow | 2.4% | 1/42 |
| Long palpebral fissure | 2.4% | 1/42 |
| Long eyelashes | 2.4% | 1/42 |
| Nevus flammeus | 2.4% | 1/42 |
| Periorbital fullness | 2.4% | 1/42 |
| Prominent epicanthal folds | 2.4% | 1/42 |
| Prominent supraorbital ridges | 2.4% | 1/42 |
| Short palpebral fissure | 2.4% | 1/42 |
| Sunken cheeks | 2.4% | 1/42 |
| Telecanthus | 2.4% | 1/42 |
| Abnormality of the nose | 70.7% | 29/41 |
| Bulbous nose | 36.6% | 15/41 |
| Anteverted nares | 22.0% | 9/41 |
| Wide nasal bridge | 22.0% | 9/41 |
| Short nose | 17.1% | 7/41 |
| Wide nasal base | 9.8% | 4/41 |
| Wide nose | 9.8% | 4/41 |
| Broad nasal tip | 4.9% | 2/41 |
| Low hanging columella | 4.9% | 2/41 |
| Prominent nasal tip | 4.9% | 2/41 |
| Abnormality of the nasal alae | 2.4% | 1/41 |
| Depressed nasal bridge | 2.4% | 1/41 |
| Flat nasal alae | 2.4% | 1/41 |
| Hypoplastic philtrum | 2.4% | 1/41 |
| Smooth philtrum | 2.4% | 1/41 |
| Abnormality of the mouth | 83.3% | 35/42 |
| Long philtrum | 21.4% | 9/42 |
| High palate | 16.7% | 7/42 |
| Smooth philtrum | 16.7% | 7/42 |
| Abnormality of upper lip vermillion | 11.9% | 5/42 |
| Retrognathia | 11.9% | 5/42 |
| Micrognathia | 7.1% | 3/42 |
| Tented upper lip vermilion | 7.1% | 3/42 |
| Widely spaced teeth | 7.1% | 3/42 |
| Abnormality of malar bones | 4.8% | 2/42 |
| Abnormality of mouth size | 4.8% | 2/42 |
| Bilateral cleft lip and palate | 4.8% | 2/42 |
| Broad philtrum | 4.8% | 2/42 |
| Carious teeth | 4.8% | 2/42 |
| Drooling | 4.8% | 2/42 |
| High, narrow palate | 4.8% | 2/42 |
| Microretrognathia | 4.8% | 2/42 |
| Overbite | 4.8% | 2/42 |
| Thick vermilion border | 4.8% | 2/42 |
| Thin vermilion border | 4.8% | 2/42 |
| Thin upper lip vermilion | 4.8% | 2/42 |
| Wide mouth | 4.8% | 2/42 |
| Abnormality of the philtrum | 2.4% | 1/42 |
| Bifid uvula | 2.4% | 1/42 |
| Bruxism | 2.4% | 1/42 |
| Cleft hard palate | 2.4% | 1/42 |
| Coloboma | 2.4% | 1/42 |
| Conical tooth | 2.4% | 1/42 |
| Downturned corners of mouth | 2.4% | 1/42 |
| Large earlobe | 2.4% | 1/42 |
| Long face | 2.4% | 1/42 |
| Long upper lip | 2.4% | 1/42 |
| Low-set ears | 2.4% | 1/42 |
| Macrodontia | 2.4% | 1/42 |
| Macrotia | 2.4% | 1/42 |
| Narrow palate | 2.4% | 1/42 |
| Open mouth | 2.4% | 1/42 |
| Protruding ear | 2.4% | 1/42 |
| Pursed lips | 2.4% | 1/42 |
| Short philtrum | 2.4% | 1/42 |
| Thick lower lip vermilion | 2.4% | 1/42 |
| Thickened helices | 2.4% | 1/42 |
| Thick upper lip vermilion | 2.4% | 1/42 |
| Unilateral cleft lip | 2.4% | 1/42 |
| Visual and hearing impairments | ||
| Abnormal hearing | 47.4% | 18/38 |
| Bilateral sensorineural hearing impairment | 18.4% | 7/38 |
| Chronic otitis media | 15.8% | 6/38 |
| Childhood onset sensorineural hearing impairment | 7.9% | 3/38 |
| Mild neurosensory hearing impairment | 5.3% | 2/38 |
| Recurrent otitis media | 5.3% | 2/38 |
| Acute otitis media | 2.6% | 1/38 |
| Bilateral conductive hearing impairment | 2.6% | 1/38 |
| Hearing impairment | 2.6% | 1/38 |
| Mixed hearing impairment | 2.6% | 1/38 |
| Nasal obstruction | 2.6% | 1/38 |
| Sensorineural hearing impairment | 2.6% | 1/38 |
| Stenosis of the Eustachian tube | 2.6% | 1/38 |
| Abnormal vision | 45.5% | 15/33 |
| Strabismus | 27.3% | 9/33 |
| Myopia | 12.1% | 4/33 |
| Nystagmus | 6.1% | 2/33 |
| Abnormality of saccadic eye movements | 3.0% | 1/33 |
| Astigmatism | 3.0% | 1/33 |
| Blindness | 3.0% | 1/33 |
| Congenital strabismus | 3.0% | 1/33 |
| Cortical visual impairment | 3.0% | 1/33 |
| Esotropia | 3.0% | 1/33 |
| Oculomotor apraxia | 3.0% | 1/33 |
| Slow decrease in visual acuity | 3.0% | 1/33 |
| Heart | ||
| Abnormality of the heart | 41.5% | 17/41 |
| Abnormality of the ventricular septum | 7.3% | 3/41 |
| Abnormality of the atrial septum | 4.9% | 2/41 |
| Aortic regurgitation | 4.9% | 2/41 |
| Aortic root dilatation | 4.9% | 2/41 |
| Aortic valve stenosis | 4.9% | 2/41 |
| Patent foramen ovale | 4.9% | 2/41 |
| Ventricular septal defect | 4.9% | 2/41 |
| Abnormality of the pulmonary artery | 2.4% | 1/41 |
| Abnormality of the aortic valve | 2.4% | 1/41 |
| Abnormality of the aortic arch | 2.4% | 1/41 |
| Absent septum pellucidum | 2.4% | 1/41 |
| Atria septal defect | 2.4% | 1/41 |
| Cardiomegaly | 2.4% | 1/41 |
| Coarctation of the descending aortic arch | 2.4% | 1/41 |
| Coarctation of aorta | 2.4% | 1/41 |
| Congenital septal defect | 2.4% | 1/41 |
| Elevated pulmonary artery pressure | 2.4% | 1/41 |
| Heart murmur | 2.4% | 1/41 |
| Primum atrial septal defect | 2.4% | 1/41 |
| Prolonged QT interval | 2.4% | 1/41 |
| Pulmonary artery atresia | 2.4% | 1/41 |
| Pulmonary artery hypoplasia | 2.4% | 1/41 |
| Pulmonary hypertension | 2.4% | 1/41 |
| Right aortic arch with left descending aorta and left ductus arteriosus | 2.4% | 1/41 |
| Ventriculomegaly | 2.4% | 1/41 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 76.9% | 30/39 |
| Feeding difficulties | 48.7% | 19/39 |
| Feeding difficulties in infancy | 38.5% | 15/39 |
| Gastroesophageal reflux | 23.1% | 9/39 |
| Constipation | 12.8% | 5/39 |
| Oral-pharyngeal dysphagia | 12.8% | 5/39 |
| Nasogastric tube feeding in infancy | 10.3% | 4/39 |
| Chronic constipation | 7.7% | 3/39 |
| Fatigable weakness of swallowing muscles | 5.1% | 2/39 |
| Gastrostomy tube feeding in infancy | 5.1% | 2/39 |
| Gastrointestinal dysmotility | 5.1% | 2/39 |
| Laryngomalacia | 5.1% | 2/39 |
| Abnormality of the anus | 2.6% | 1/39 |
| Abnormal branching pattern of the aortic arch | 2.6% | 1/39 |
| Aspiration | 2.6% | 1/39 |
| Bowel incontinence | 2.6% | 1/39 |
| Chewing difficulties | 2.6% | 1/39 |
| Delayed self-feeding during toddler years | 2.6% | 1/39 |
| Prolonged neonatal jaundice | 2.6% | 1/39 |
| Vomiting | 2.6% | 1/39 |
| Urogenital | ||
| Abnormality of the urogenital system | 33.3% | 13/39 |
| Cryptorchidism | 20.5% | 8/39 |
| Hypospadias | 7.7% | 3/39 |
| Ambiguous genitalia | 2.6% | 1/39 |
| Bilateral cryptorchidism | 2.6% | 1/39 |
| Bladder diverticulum | 2.6% | 1/39 |
| Hydroureter | 2.6% | 1/39 |
| Hydronephrosis | 2.6% | 1/39 |
| Penoscrotal hypospadias | 2.6% | 1/39 |
| Testicular dysgenesis | 2.6% | 1/39 |
| Unilateral cryptorchidism | 2.6% | 1/39 |
| Urinary incontinence | 2.6% | 1/39 |
| Vesicoureteral reflux | 2.6% | 1/39 |
| Skeleton | ||
| Skeletal abnormalities | 97.6% | 41/42 |
| Sacral dimple | 31.0% | 13/42 |
| Microcephaly | 23.8% | 10/42 |
| Short stature | 19.0% | 8/42 |
| Short neck | 16.7% | 7/42 |
| Scoliosis | 11.9% | 5/42 |
| Joint hyperflexibility | 9.5% | 4/42 |
| Pes planus | 9.5% | 4/42 |
| Slender finger | 9.5% | 4/42 |
| Abnormality of the gluteal musculature | 7.1% | 3/42 |
| Brachycephaly | 7.1% | 3/42 |
| Hip dysplasia | 7.1% | 3/42 |
| Joint hypermobility | 7.1% | 3/42 |
| Kyphosis | 7.1% | 3/42 |
| Pectus excavatum | 7.1% | 3/42 |
| Plagiocephaly | 7.1% | 3/42 |
| 11 pairs of ribs | 7.1% | 3/42 |
| Bilateral talipes equinovarus | 4.8% | 2/42 |
| Growth delay | 4.8% | 2/42 |
| High forehead | 4.8% | 2/42 |
| Joint laxity | 4.8% | 2/42 |
| Long fingers | 4.8% | 2/42 |
| Moderately short stature | 4.8% | 2/42 |
| Overlapping toe | 4.8% | 2/42 |
| Pointed chin | 4.8% | 2/42 |
| Postnatal growth retardation | 4.8% | 2/42 |
| Scapular winging | 4.8% | 2/42 |
| Single transverse palmar crease | 4.8% | 2/42 |
| Spasticity | 4.8% | 2/42 |
| Torticollis | 4.8% | 2/42 |
| Abnormality of the sacrum | 2.4% | 1/42 |
| Abnormal shape of the occiput | 2.4% | 1/42 |
| Abnormality of the thoracic cavity | 2.4% | 1/42 |
| Abnormality of the radius | 2.4% | 1/42 |
| Abnormality of the palmar creases | 2.4% | 1/42 |
| Abnormality of the toenails | 2.4% | 1/42 |
| Abnormality of joint mobility | 2.4% | 1/42 |
| Abnormal number of vertebrae | 2.4% | 1/42 |
| Abnormal morphology of ulna | 2.4% | 1/42 |
| Abnormal ossification involving the femoral head and neck | 2.4% | 1/42 |
| Aplasia/Hypoplasia of the patella | 2.4% | 1/42 |
| Aplasia/Hypoplasia of fingers | 2.4% | 1/42 |
| Aplasia involving bones of the extremities | 2.4% | 1/42 |
| Arachnodactyly | 2.4% | 1/42 |
| Bilateral single transverse palmar creases | 2.4% | 1/42 |
| Bowing of the legs | 2.4% | 1/42 |
| Brachydactyly syndrome | 2.4% | 1/42 |
| Broad forehead | 2.4% | 1/42 |
| Broad-based gait | 2.4% | 1/42 |
| Broad hallux phalanx | 2.4% | 1/42 |
| Clinodactyly of the 5th toe | 2.4% | 1/42 |
| Clinodactyly of the 5th finger | 2.4% | 1/42 |
| Complete duplication of distal phalanx of the thumb | 2.4% | 1/42 |
| Craniosynostosis | 2.4% | 1/42 |
| Deep palmar crease | 2.4% | 1/42 |
| Distal amyotrophy | 2.4% | 1/42 |
| Dolichocephaly | 2.4% | 1/42 |
| Finger joint hypermobility | 2.4% | 1/42 |
| Flat occiput | 2.4% | 1/42 |
| Gait apraxia | 2.4% | 1/42 |
| Generalized neonatal hypotonia | 2.4% | 1/42 |
| Generalized hypotonia | 2.4% | 1/42 |
| Hand polydactyly | 2.4% | 1/42 |
| Hyperextensible hand joints | 2.4% | 1/42 |
| Hyperextensibility at wrists | 2.4% | 1/42 |
| Hypoplastic fingernail | 2.4% | 1/42 |
| Kyphoscoliosis | 2.4% | 1/42 |
| Large forehead | 2.4% | 1/42 |
| Lower thoracic kyphosis | 2.4% | 1/42 |
| Lower limb spasticity | 2.4% | 1/42 |
| Lumbar hyperlordosis | 2.4% | 1/42 |
| Lumbar kyphosis | 2.4% | 1/42 |
| Macrocephaly | 2.4% | 1/42 |
| Mild postnatal growth retardation | 2.4% | 1/42 |
| Mild microcephaly | 2.4% | 1/42 |
| Muscular hypotonia | 2.4% | 1/42 |
| Myoclonus | 2.4% | 1/42 |
| Narrow chest | 2.4% | 1/42 |
| Narrow forehead | 2.4% | 1/42 |
| Osteopenia | 2.4% | 1/42 |
| Pectus carinatum | 2.4% | 1/42 |
| Progressive macrocephaly | 2.4% | 1/42 |
| Progressive congenital scoliosis | 2.4% | 1/42 |
| Prominent protruding coccyx | 2.4% | 1/42 |
| Prominent supraorbital ridges | 2.4% | 1/42 |
| Prominent fingertip pads | 2.4% | 1/42 |
| Prominent coccyx | 2.4% | 1/42 |
| Radioulnar synostosis | 2.4% | 1/42 |
| Short digit | 2.4% | 1/42 |
| Short chin | 2.4% | 1/42 |
| Sloping forehead | 2.4% | 1/42 |
| Small fontanelle | 2.4% | 1/42 |
| Spastic diplegia | 2.4% | 1/42 |
| Superior pectus carinatum | 2.4% | 1/42 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 59.5% | 22/37 |
| Sparse anterior scalp hair | 16.2% | 6/37 |
| Aplasia cutis congenita | 8.1% | 3/37 |
| Eczema | 8.1% | 3/37 |
| Toenail dysplasia | 8.1% | 3/37 |
| Few cafe-au-lait spots | 5.4% | 2/37 |
| Mottled pigmentation | 5.4% | 2/37 |
| Abnormality of hair texture | 2.7% | 1/37 |
| Abnormality of the nail | 2.7% | 1/37 |
| Abnormality of skin pigmentation | 2.7% | 1/37 |
| Abnormality of the toenails | 2.7% | 1/37 |
| Aplastic/hypoplastic toenail | 2.7% | 1/37 |
| Dry skin | 2.7% | 1/37 |
| Eczematoid dermatitis | 2.7% | 1/37 |
| Hypoplastic fingernail | 2.7% | 1/37 |
| Hypopigmentation of the skin | 2.7% | 1/37 |
| Hypoplastic nipples | 2.7% | 1/37 |
| Petechiae | 2.7% | 1/37 |
| Prominent fingertip pads | 2.7% | 1/37 |
| Scarring | 2.7% | 1/37 |
| Thin nail | 2.7% | 1/37 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 7.9% | 3/38 |
| Abnormality of thyroid physiology | 2.6% | 1/38 |
| Central hypothyroidism | 2.6% | 1/38 |
| Hypothyroidism | 2.6% | 1/38 |
| Abnormality of the metabolic system | 50.0% | 20/40 |
| Neonatal respiratory distress | 12.5% | 5/40 |
| Sleep disturbance | 10.0% | 4/40 |
| Asthma | 7.5% | 3/40 |
| Anemia | 5.0% | 2/40 |
| Chronic fatigue | 5.0% | 2/40 |
| Cyanosis | 5.0% | 2/40 |
| Easy fatigability | 5.0% | 2/40 |
| Hypoglycemia | 5.0% | 2/40 |
| Sleep apnea | 5.0% | 2/40 |
| Abnormality of temperature regulation | 2.5% | 1/40 |
| Abnormality of mucopolysaccharide metabolism | 2.5% | 1/40 |
| Apnea | 2.5% | 1/40 |
| Bronchitis | 2.5% | 1/40 |
| Constipation | 2.5% | 1/40 |
| Decreased mean platelet volume | 2.5% | 1/40 |
| Dyspnea | 2.5% | 1/40 |
| Hernia | 2.5% | 1/40 |
| Hydronephrosis | 2.5% | 1/40 |
| Neonatal hypoglycemia | 2.5% | 1/40 |
| Pain insensitivity | 2.5% | 1/40 |
| Recurrent upper respiratory tract infections | 2.5% | 1/40 |
| Respiratory distress | 2.5% | 1/40 |
| Small for gestational age | 2.5% | 1/40 |
| Abnormality of the immune system | 5.4% | 2/37 |
| Asthma | 2.7% | 1/37 |
| Bronchitis | 2.7% | 1/37 |
| Neoplasia | ||
| Neoplasia | 2.3% | 1/43 |
| Neuroblastoma | 2.3% | 1/43 |