TAF1

Graph and Chart

Patient Overview : 43

General

Frequency of all clinical findings

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 9.3% 4/43
Intellectual disability, mild 9.3% 4/43
Growth delay 7.0% 3/43
Intellectual disability, moderate 7.0% 3/43
Intellectual disability, profound 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
Abnormality of mucopolysaccharide metabolism 2.3% 1/43
Abnormal muscle tone 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 distal muscular atrophy 2.3% 1/43
Progressive spastic quadriplegia 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 apnea 2.7% 1/37
Sleep disturbance 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
Abnormality of the cerebral ventricles 9.4% 3/32
Abnormal myelination 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
Abnormality of the cerebral white matter 3.1% 1/32
Abnormal CNS myelination 3.1% 1/32
Agenesis of corpus callosum 3.1% 1/32
Agenesis of cerebellar vermis 3.1% 1/32
Aplasia of the falx cerebri 3.1% 1/32
Aplasia/Hypoplasia of the optic nerve 3.1% 1/32
Aplasia/Hypoplasia of the cerebellar vermis 3.1% 1/32
Cerebellar atrophy 3.1% 1/32
Cerebral white matter atrophy 3.1% 1/32
Cerebellar gliosis 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 cornea 2.4% 1/42
Abnormality of the palpebral fissures 2.4% 1/42
Abnormality of saccadic eye movements 2.4% 1/42
Abnormality of vision 2.4% 1/42
Abnormality of the glabella 2.4% 1/42
Abnormality of the orbital region 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 eyelashes 2.4% 1/42
Long palpebral fissure 2.4% 1/42
Nevus flammeus 2.4% 1/42
Periorbital fullness 2.4% 1/42
Prominent supraorbital ridges 2.4% 1/42
Prominent epicanthal folds 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 nose 9.8% 4/41
Wide nasal base 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 upper lip vermilion 4.8% 2/42
Thin vermilion border 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 upper lip 2.4% 1/42
Long face 2.4% 1/42
Low-set ears 2.4% 1/42
Macrotia 2.4% 1/42
Macrodontia 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
Thickened helices 2.4% 1/42
Thick upper lip vermilion 2.4% 1/42
Thick lower 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 aortic valve 2.4% 1/41
Abnormality of the pulmonary artery 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 aorta 2.4% 1/41
Coarctation of the descending aortic arch 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 hypertension 2.4% 1/41
Pulmonary artery hypoplasia 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
Abnormal shape of the occiput 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 morphology of ulna 2.4% 1/42
Abnormality of the radius 2.4% 1/42
Abnormal ossification involving the femoral head and neck 2.4% 1/42
Abnormality of the sacrum 2.4% 1/42
Abnormal number of vertebrae 2.4% 1/42
Abnormality of the thoracic cavity 2.4% 1/42
Aplasia involving bones of the extremities 2.4% 1/42
Aplasia/Hypoplasia of fingers 2.4% 1/42
Aplasia/Hypoplasia of the patella 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-based gait 2.4% 1/42
Broad hallux phalanx 2.4% 1/42
Broad forehead 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
Hyperextensibility at wrists 2.4% 1/42
Hyperextensible hand joints 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 microcephaly 2.4% 1/42
Mild postnatal growth retardation 2.4% 1/42
Muscular hypotonia 2.4% 1/42
Myoclonus 2.4% 1/42
Narrow forehead 2.4% 1/42
Narrow chest 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 coccyx 2.4% 1/42
Prominent supraorbital ridges 2.4% 1/42
Prominent fingertip pads 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 the toenails 2.7% 1/37
Abnormality of skin pigmentation 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
Hypoplastic nipples 2.7% 1/37
Hypopigmentation of the skin 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