Patient Overview : 208

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 104/208
Female 50.0% 104/208
Neurology    
Neurological abnormalities 87.2% 163/187
Seizures 15.5% 29/187
Absence seizures 1.6% 3/187
Febrile seizures 3.7% 7/187
Generalized hypotonia 19.3% 36/187
Impaired pain sensation 6.4% 12/187
Generalized tonic-clonic seizures 6.4% 12/187
EEG abnormality 4.3% 8/187
Neonatal hypotonia 9.1% 17/187
Atonic seizures 0.5% 1/187
Muscular hypotonia 33.2% 62/187
Abnormality of pain sensation 2.1% 4/187
Poor fine motor coordination 1.1% 2/187
Focal seizures with impairment of consciousness or awareness 2.7% 5/187
Focal seizures 1.1% 2/187
Headache 0.5% 1/187
Generalized tonic seizures 1.1% 2/187
Generalized myoclonic seizures 1.1% 2/187
Unsteady gait 0.5% 1/187
Developmental regression 0.5% 1/187
Gait imbalance 0.5% 1/187
Cerebral palsy 0.5% 1/187
Broad-based gait 1.1% 2/187
Ataxia 0.5% 1/187
Infantile axial hypotonia 0.5% 1/187
Hyperreflexia 1.6% 3/187
Motor delay 2.1% 4/187
Muscular hypotonia of the trunk 0.5% 1/187
Global developmental delay 0.5% 1/187
Lower limb hyperreflexia 1.1% 2/187
Visual agnosia 3.7% 7/187
Impaired visuospatial constructive cognition 3.7% 7/187
Astereognosia 3.7% 7/187
Lower limb hypertonia 1.1% 2/187
Upper limb hypertonia 1.1% 2/187
Infantile muscular hypotonia 0.5% 1/187
Torticollis 0.5% 1/187
Oromandibular dystonia 0.5% 1/187
Exercise intolerance 0.5% 1/187
Poor gross motor coordination 0.5% 1/187
Dysarthria 0.5% 1/187
Gait disturbance 0.5% 1/187
Postural instability 0.5% 1/187
Dysmetria 0.5% 1/187
Dysdiadochokinesis 0.5% 1/187
Focal seizures without impairment of consciousness or awareness 0.5% 1/187
Gait ataxia 1.6% 3/187
Central hypotonia 3.7% 7/187
Posterior fossa cyst 0.5% 1/187
Abnormality of the subarachnoid space 0.5% 1/187
Colpocephaly 1.1% 2/187
Dysplastic corpus callosum 0.5% 1/187
Widened subarachnoid space 0.5% 1/187
Partial agenesis of the corpus callosum 0.5% 1/187
Delayed myelination 1.1% 2/187
Abnormality of the corpus callosum 0.5% 1/187
Agenesis of corpus callosum 0.5% 1/187
Generalized seizures 0.5% 1/187
Behavioral problems 66.3% 110/166
Short attention span 9.6% 16/166
Anxiety 3.0% 5/166
Hyperactivity 25.3% 42/166
Attention deficit hyperactivity disorder 13.9% 23/166
Autistic behavior 30.7% 51/166
Hyperkinesis 6.0% 10/166
Obsessive-compulsive behavior 7.2% 12/166
Emotional lability 1.2% 2/166
Abnormal emotion/affect behavior 1.2% 2/166
Impulsivity 3.6% 6/166
Violent behavior 0.6% 1/166
Oral aversion 0.6% 1/166
Abnormal fear/anxiety-related behavior 7.8% 13/166
Autism 6.6% 11/166
Obsessive-compulsive trait 2.4% 4/166
Clumsiness 0.6% 1/166
Aggressive behavior 7.8% 13/166
Impaired social interactions 7.8% 13/166
Behavioral abnormality 3.0% 5/166
Inflexible adherence to routines or rituals 1.2% 2/166
Abnormal social behavior 3.0% 5/166
Sleep disturbance 0.6% 1/166
Repetitive compulsive behavior 0.6% 1/166
Stereotypic behavior 6.6% 11/166
Poor eye contact 0.6% 1/166
Impaired ability to form peer relationships 0.6% 1/166
Shyness 0.6% 1/166
Phonophobia 0.6% 1/166
Restrictive behavior 0.6% 1/166
Impaired social reciprocity 3.0% 5/166
Overfriendliness 0.6% 1/166
Abnormal aggressive, impulsive or violent behavior 1.2% 2/166
Hyperacusis 0.6% 1/166
Absent speech 0.6% 1/166
Self-injurious behavior 0.6% 1/166
Brain abnormality 74.1% 109/147
Enlarged cisterna magna 6.8% 10/147
Brain atrophy 0.7% 1/147
Abnormality of the periventricular white matter 0.7% 1/147
Abnormality of the corpus callosum 3.4% 5/147
Agenesis of corpus callosum 22.4% 33/147
Ventriculomegaly 2.0% 3/147
Dysplastic corpus callosum 3.4% 5/147
Hypoplasia of the corpus callosum 8.8% 13/147
Delayed myelination 6.1% 9/147
Arachnoid cyst 2.0% 3/147
Partial agenesis of the corpus callosum 7.5% 11/147
Pachygyria 0.7% 1/147
Colpocephaly 4.8% 7/147
Abnormality of cerebral veins 0.7% 1/147
Aplasia/Hypoplasia of the corpus callosum 6.1% 9/147
Intracranial cystic lesion 2.0% 3/147
Perivascular spaces 1.4% 2/147
Prominent supraorbital ridges 0.7% 1/147
Hypoplastic olfactory lobes 0.7% 1/147
Choroid plexus cyst 1.4% 2/147
Abnormality of the cerebral cortex 0.7% 1/147
Abnormality of the cerebellum 0.7% 1/147
Abnormality of the cerebral white matter 0.7% 1/147
Abnormality of corpus cavernosum 0.7% 1/147
Heterotopia 1.4% 2/147
Polymicrogyria 0.7% 1/147
Arnold-Chiari type I malformation 1.4% 2/147
Lambdoidal craniosynostosis 0.7% 1/147
Multiple suture craniosynostosis 0.7% 1/147
Sagittal craniosynostosis 0.7% 1/147
Cavum septum pellucidum 0.7% 1/147
Neonatal hypotonia 0.7% 1/147
Asymmetric ventricles 0.7% 1/147
Cerebellar cyst 3.4% 5/147
Cerebellar agenesis 0.7% 1/147
Microcephaly 0.7% 1/147
Hydrocephalus 0.7% 1/147
Relative macrocephaly 0.7% 1/147
Thick corpus callosum 3.4% 5/147
Short corpus callosum 4.1% 6/147
Cerebellar dysplasia 0.7% 1/147
Attention deficit hyperactivity disorder 1.4% 2/147
Retrocerebellar cyst 3.4% 5/147
Subarachnoid hemorrhage 0.7% 1/147
Abnormality of lateral ventricle 0.7% 1/147
Abnormal length of corpus callosum 0.7% 1/147
Enlarged fetal cisterna magna 0.7% 1/147
Hypoplasia of the brainstem 0.7% 1/147
Abnormality of midbrain morphology 0.7% 1/147
Seizures 0.7% 1/147
Aplasia/Hypoplasia of the cerebrum 1.4% 2/147
Cerebellar hypoplasia 1.4% 2/147
Dandy-Walker malformation 0.7% 1/147
Absent septum pellucidum 0.7% 1/147
Abnormality of neuronal migration 0.7% 1/147
Talipes calcaneovarus 0.7% 1/147
Neoplasm of the central nervous system 0.7% 1/147
Cerebral hypoplasia 0.7% 1/147
Bilateral intracranial calcifications 0.7% 1/147
Abnormality of the pons 0.7% 1/147
Hypoplasia of the pons 0.7% 1/147
Abnormality of forebrain morphology 0.7% 1/147
Aplasia/Hypoplasia involving the central nervous system 0.7% 1/147
Hypodysplasia of the corpus callosum 0.7% 1/147
Facial abnormalities    
Abnormality of the ear 60.8% 113/186
Macrotia 4.3% 8/186
Abnormality of the ear 5.4% 10/186
Posteriorly rotated ears 4.8% 9/186
Uplifted earlobe 4.3% 8/186
Abnormality of earlobe 1.1% 2/186
Overfolded helix 1.6% 3/186
Forward facing earlobe 1.6% 3/186
Cupped ear 1.1% 2/186
Protruding ear 4.3% 8/186
Low-set ears 11.8% 22/186
Underdeveloped superior crus of antihelix 1.6% 3/186
Abnormality of the pinna 9.7% 18/186
Long eyelashes 0.5% 1/186
Thick eyebrow 0.5% 1/186
Abnormality of the outer ear 4.8% 9/186
Low-set, posteriorly rotated ears 8.1% 15/186
External ear malformation 3.2% 6/186
Large earlobe 0.5% 1/186
Small earlobe 1.1% 2/186
Thickened helices 1.1% 2/186
Asymmetry of the ears 0.5% 1/186
Abnormal location of ears 1.1% 2/186
Abnormality of periauricular region 0.5% 1/186
Satyr ear 0.5% 1/186
Preauricular pit 1.6% 3/186
Cholesteatoma 1.1% 2/186
Mild hearing impairment 0.5% 1/186
Recurrent otitis media 0.5% 1/186
Recurrent infections of the middle ear 0.5% 1/186
Prominent ear helix 0.5% 1/186
Microtia 0.5% 1/186
Long ear 0.5% 1/186
Abnormality of the eye 89.0% 170/191
Long eyelashes 50.3% 96/191
Bilateral ptosis 4.2% 8/191
Periorbital wrinkles 8.4% 16/191
Highly arched eyebrow 1.6% 3/191
Muscular hypotonia of the trunk 0.5% 1/191
Thick eyebrow 60.2% 115/191
Downslanted palpebral fissures 14.7% 28/191
Epicanthus 5.8% 11/191
Upslanted palpebral fissure 6.8% 13/191
Long palpebral fissure 3.7% 7/191
Ptosis 8.4% 16/191
Synophrys 8.4% 16/191
Short eyelashes 0.5% 1/191
Facial wrinkling 2.6% 5/191
Small palpebral fissure 3.1% 6/191
Abnormality of the lacrimal duct 2.6% 5/191
Unilateral ptosis 3.1% 6/191
Lower eyelid edema 0.5% 1/191
Short palpebral fissure 2.1% 4/191
Long eyebrows 0.5% 1/191
Excessive wrinkled skin 0.5% 1/191
Prominent epicanthal folds 0.5% 1/191
Strabismus 4.2% 8/191
Broad forehead 0.5% 1/191
High forehead 0.5% 1/191
Hypertelorism 3.1% 6/191
Prominent eyelashes 3.7% 7/191
Blue sclerae 0.5% 1/191
Exotropia 0.5% 1/191
Congenital ptosis 0.5% 1/191
Lacrimal duct stenosis 0.5% 1/191
Esotropia 1.0% 2/191
Abnormality of the eyelashes 0.5% 1/191
Horizontal nystagmus 0.5% 1/191
Nasolacrimal duct obstruction 1.0% 2/191
Proptosis 1.6% 3/191
Deeply set eye 0.5% 1/191
Lisch nodules 0.5% 1/191
Abnormality of the periorbital region 1.0% 2/191
Redundant skin 0.5% 1/191
Periorbital fullness 0.5% 1/191
Abnormality of the nose 79.0% 147/186
Wide nasal bridge 24.2% 45/186
Depressed nasal bridge 14.0% 26/186
Anteverted nares 20.4% 38/186
Short nose 12.4% 23/186
Long nose 9.7% 18/186
Thick nasal alae 30.6% 57/186
Wide nasal base 21.0% 39/186
Thick lower lip vermilion 1.1% 2/186
Broad nasal tip 44.1% 82/186
Abnormality of the nasal alae 0.5% 1/186
Abnormality of the columella 0.5% 1/186
Narrow nasal tip 1.6% 3/186
Underdeveloped nasal alae 0.5% 1/186
Prominent nasal tip 2.2% 4/186
Bulbous nose 4.3% 8/186
Abnormality of the nasal bridge 0.5% 1/186
Long philtrum 0.5% 1/186
Nasal polyposis 0.5% 1/186
Nasal obstruction 0.5% 1/186
Thin upper lip vermilion 0.5% 1/186
Thin lower lip vermilion 0.5% 1/186
Thick upper lip vermilion 0.5% 1/186
Hypodontia 0.5% 1/186
Narrow nasal base 0.5% 1/186
Abnormality of the nasal tip 0.5% 1/186
Narrow nasal bridge 0.5% 1/186
Prominent nasal bridge 1.1% 2/186
Prominent nose 0.5% 1/186
Thick vermilion border 0.5% 1/186
Papule 0.5% 1/186
Retrognathia 0.5% 1/186
Flat nasal alae 0.5% 1/186
Broad philtrum 0.5% 1/186
Abnormal nasal morphology 0.5% 1/186
Wide nose 1.1% 2/186
Low hanging columella 0.5% 1/186
Abnormality of the mouth 94.2% 178/189
Long philtrum 28.0% 53/189
Wide mouth 56.1% 106/189
Thick upper lip vermilion 19.6% 37/189
Thick lower lip vermilion 53.4% 101/189
Abnormality of dental enamel 1.1% 2/189
Prominent palatine ridges 0.5% 1/189
Delayed eruption of primary teeth 13.2% 25/189
Delayed eruption of permanent teeth 7.4% 14/189
Widely spaced teeth 14.8% 28/189
Thin upper lip vermilion 31.2% 59/189
Everted lower lip vermilion 21.7% 41/189
Hypodontia 4.2% 8/189
High palate 11.1% 21/189
Broad philtrum 19.6% 37/189
Short philtrum 14.3% 27/189
Bifid uvula 2.1% 4/189
Cleft palate 5.3% 10/189
Mandibular prognathia 1.1% 2/189
Gingival overgrowth 5.8% 11/189
Everted upper lip vermilion 0.5% 1/189
Ankyloglossia 0.5% 1/189
Advanced eruption of teeth 0.5% 1/189
Open mouth 2.1% 4/189
Abnormality of mouth size 0.5% 1/189
Coarse facial features 2.6% 5/189
Abnormality of the gingiva 0.5% 1/189
Abnormality of the philtrum 1.6% 3/189
Microdontia 2.1% 4/189
Misalignment of teeth 0.5% 1/189
Widely spaced primary teeth 0.5% 1/189
Excessive salivation 0.5% 1/189
Overbite 0.5% 1/189
Macroglossia 2.6% 5/189
Thin lower lip vermilion 0.5% 1/189
Submucous cleft soft palate 0.5% 1/189
Short chin 0.5% 1/189
Micrognathia 4.2% 8/189
Downturned corners of mouth 0.5% 1/189
Widely-spaced incisors 0.5% 1/189
Thick vermilion border 0.5% 1/189
Protruding tongue 0.5% 1/189
Smooth philtrum 0.5% 1/189
Carious teeth 1.1% 2/189
Submucous cleft lip 0.5% 1/189
Conical tooth 0.5% 1/189
Retrognathia 0.5% 1/189
Small, conical teeth 0.5% 1/189
Dental malocclusion 0.5% 1/189
Absent speech 0.5% 1/189
High, narrow palate 0.5% 1/189
Abnormality of the tongue 0.5% 1/189
Growth delay 0.5% 1/189
Pes planus 0.5% 1/189
Visual and hearing impairments    
Abnormal hearing 23.2% 42/181
Bilateral conductive hearing impairment 1.7% 3/181
Hearing impairment 13.8% 25/181
Otitis media 0.6% 1/181
Conductive hearing impairment 3.9% 7/181
Hyperacusis 0.6% 1/181
Abnormality of the middle ear 0.6% 1/181
Sensorineural hearing impairment 0.6% 1/181
Severe hearing impairment 0.6% 1/181
Mild hearing impairment 1.1% 2/181
Abnormality of the tympanic membrane 0.6% 1/181
Mixed hearing impairment 0.6% 1/181
Bilateral sensorineural hearing impairment 1.7% 3/181
Moderate sensorineural hearing impairment 1.7% 3/181
Severe sensorineural hearing impairment 1.1% 2/181
Moderate conductive hearing impairment 0.6% 1/181
Mild conductive hearing impairment 0.6% 1/181
Unilateral 0.6% 1/181
Recurrent otitis media 0.6% 1/181
Glue ear 0.6% 1/181
Abnormal vision 55.3% 94/170
Nystagmus 4.1% 7/170
Severe Myopia 6.5% 11/170
Myopia 21.2% 36/170
Visual impairment 7.6% 13/170
Astigmatism 7.1% 12/170
Abnormality of refraction 3.5% 6/170
Hypermetropia 5.9% 10/170
Esotropia 0.6% 1/170
Strabismus 11.2% 19/170
Unilateral strabismus 1.8% 3/170
Optic nerve hypoplasia 1.2% 2/170
Coloboma 0.6% 1/170
Corneal ulceration 0.6% 1/170
Blurred vision 0.6% 1/170
Cortical visual impairment 0.6% 1/170
Exotropia 2.4% 4/170
Amblyopia 1.2% 2/170
Optic nerve coloboma 0.6% 1/170
Increased intraocular pressure 0.6% 1/170
Cataract 0.6% 1/170
Abnormality of the optic disc 0.6% 1/170
Peripapillary chorioretinal atrophy 0.6% 1/170
Keratoconus 0.6% 1/170
Congenital cataract 0.6% 1/170
Heart    
Abnormality of the heart 23.0% 38/165
Atria septal defect 10.3% 17/165
Mitral regurgitation 1.8% 3/165
Atrioventricular block 0.6% 1/165
Patent foramen ovale 2.4% 4/165
Ventricular septal defect 4.2% 7/165
Abnormality of the tricuspid valve 0.6% 1/165
Atrioventricular canal defect 0.6% 1/165
Coarctation of aorta 1.2% 2/165
Bicuspid aortic valve 1.2% 2/165
Abnormality of the aortic valve 1.2% 2/165
Abnormality of the atrial septum 1.2% 2/165
Cyanosis 0.6% 1/165
Bradycardia 0.6% 1/165
Heart murmur 0.6% 1/165
Non-restrictive ventricular septal defect 0.6% 1/165
Patent ductus arteriosus 0.6% 1/165
Secundum atrial septal defect 0.6% 1/165
Left-to-right shunt 0.6% 1/165
Abnormal heart morphology 1.2% 2/165
Abnormality of the cardiac septa 0.6% 1/165
Abnormality of the left ventricle 0.6% 1/165
Abnormality of the vasculature 0.6% 1/165
Gastrointestinal    
Gastrointestinal abnormalities 58.9% 96/163
Constipation 21.5% 35/163
Diarrhea 3.1% 5/163
Gastroesophageal reflux 14.1% 23/163
Feeding difficulties 11.0% 18/163
Feeding difficulties in infancy 18.4% 30/163
Lactose intolerance 1.2% 2/163
Aspiration 0.6% 1/163
Gastrostomy tube feeding in infancy 1.8% 3/163
Inguinal hernia 2.5% 4/163
Hiatus hernia 0.6% 1/163
Esophagitis 0.6% 1/163
Nasogastric tube feeding in infancy 1.8% 3/163
Pyloric stenosis 1.2% 2/163
Laryngomalacia 1.2% 2/163
Umbilical hernia 3.7% 6/163
Episodic vomiting 0.6% 1/163
Abnormality of the intestine 1.2% 2/163
Hernia of the abdominal wall 1.2% 2/163
Anal fistula 0.6% 1/163
Poor suck 1.8% 3/163
Failure to thrive in infancy 1.2% 2/163
Failure to thrive 1.2% 2/163
Dehydration 0.6% 1/163
Cow milk allergy 0.6% 1/163
Malnutrition 0.6% 1/163
Intestinal malrotation 0.6% 1/163
Vomiting 0.6% 1/163
Hyperinsulinemia 0.6% 1/163
Intestinal lymphangiectasia 0.6% 1/163
Intestinal obstruction 0.6% 1/163
Abnormality of the gastrointestinal tract 0.6% 1/163
Urogenital    
Abnormality of the urogenital system 39.0% 60/154
Abnormality of the urinary system 1.3% 2/154
Bilateral cryptorchidism 11.7% 18/154
Inguinal hernia 1.3% 2/154
Enuresis nocturna 0.6% 1/154
Proteinuria 0.6% 1/154
Unilateral cryptorchidism 7.1% 11/154
Abnormality of the kidney 0.6% 1/154
Cryptorchidism 8.4% 13/154
Aplasia of the uterus 0.6% 1/154
Aplasia of the upper vagina 0.6% 1/154
Vesicoureteral reflux 0.6% 1/154
Nephrolithiasis 2.6% 4/154
Hydronephrosis 1.9% 3/154
Retractile testis 1.9% 3/154
Abnormality of the testis 0.6% 1/154
Abnormality of the penis 1.3% 2/154
Increased size of the clitoris 1.3% 2/154
Hydrocele testis 0.6% 1/154
Urinary retention 0.6% 1/154
Hypoplastic male external genitalia 0.6% 1/154
Webbed penis 0.6% 1/154
Scrotal hypoplasia 0.6% 1/154
Pyelonephritis 0.6% 1/154
Clitoral hypertrophy 0.6% 1/154
Hydroureter 0.6% 1/154
Nephrocalcinosis 0.6% 1/154
Stage 5 chronic kidney disease 0.6% 1/154
Abnormality of the urinary system physiology 0.6% 1/154
Skeleton    
Skeletal abnormalities 85.9% 159/185
Clinodactyly 15.7% 29/185
Hip dislocation 0.5% 1/185
Short 5th finger 11.4% 21/185
Short phalanx of finger 9.2% 17/185
Short distal phalanx of finger 12.4% 23/185
Delayed skeletal maturation 10.8% 20/185
Scoliosis 22.2% 41/185
Prominent interphalangeal joints 14.1% 26/185
Abnormality of the neck 6.5% 12/185
Abnormality of the sternum 5.4% 10/185
Adducted thumb 0.5% 1/185
Long hallux 7.0% 13/185
Arthritis 2.2% 4/185
Brachydactyly syndrome 8.6% 16/185
Abnormality of the distal phalanx of the 5th finger 20.5% 38/185
Triphalangeal thumb 1.1% 2/185
Sandal gap 11.4% 21/185
Cone-shaped epiphysis 1.6% 3/185
Abnormality of the phalanges of the 5th finger 0.5% 1/185
Aplasia/Hypoplasia of the phalanges of the 5th toe 0.5% 1/185
Symphalangism affecting the phalanges of the 5th toe 0.5% 1/185
Hyperlordosis 1.1% 2/185
Pes planus 2.7% 5/185
Aplasia/Hypoplasia of the phalanges of the hand 1.1% 2/185
Patellar dislocation 1.6% 3/185
Prominent fingertip pads 3.2% 6/185
Accelerated skeletal maturation 1.1% 2/185
Aplasia/Hypoplasia of fingers 0.5% 1/185
Joint hypermobility 1.6% 3/185
Aplasia/Hypoplasia of the distal phalanges of the hand 0.5% 1/185
Talipes valgus 0.5% 1/185
Aplasia/Hypoplasia of the distal phalanges of the toes 0.5% 1/185
Short metacarpal 1.1% 2/185
Short metatarsal 1.1% 2/185
Camptodactyly of finger 0.5% 1/185
Short hallux 0.5% 1/185
Spondylolysis 0.5% 1/185
Short sternum 0.5% 1/185
Abnormality of the thumb 1.6% 3/185
Abnormality of the vertebrae 0.5% 1/185
Aplasia/Hypoplasia of the 2nd finger 0.5% 1/185
Overlapping toe 0.5% 1/185
Sparse scalp hair 0.5% 1/185
Thick hair 0.5% 1/185
Hypertrichosis 0.5% 1/185
Aplasia/Hypoplasia of the nails 0.5% 1/185
Valgus foot deformity 0.5% 1/185
Broad foot 0.5% 1/185
Deep plantar creases 0.5% 1/185
Broad distal phalanges of all fingers 0.5% 1/185
Broad distal phalanx of finger 1.1% 2/185
Shortening of all phalanges of fingers 0.5% 1/185
Shortening of all phalanges of the toes 0.5% 1/185
Clinodactyly of the 5th finger 1.6% 3/185
Proximal placement of thumb 0.5% 1/185
Abnormal joint morphology 0.5% 1/185
Short stature 5.4% 10/185
Abnormal metacarpal morphology 0.5% 1/185
Toe walking 0.5% 1/185
Short distal phalanx of the 5th finger 0.5% 1/185
Microcephaly 2.7% 5/185
Brachycephaly 3.2% 6/185
Broad hallux 1.6% 3/185
Short finger 1.6% 3/185
Congenital hip dislocation 0.5% 1/185
Plagiocephaly 2.7% 5/185
Genu valgum 1.1% 2/185
Rocker bottom foot 0.5% 1/185
Pectus excavatum 2.7% 5/185
Short toe 1.1% 2/185
Flat occiput 0.5% 1/185
Abnormality of the scapula 0.5% 1/185
Limited elbow extension 0.5% 1/185
Short neck 1.1% 2/185
Single transverse palmar crease 2.2% 4/185
Macrocephaly 0.5% 1/185
Metatarsus adductus 0.5% 1/185
Abnormality of the distal phalanx of finger 1.1% 2/185
Frontal bossing 1.6% 3/185
Dolichocephaly 1.1% 2/185
Joint laxity 2.2% 4/185
Long toe 0.5% 1/185
Abnormality of the calvaria 0.5% 1/185
Hallux valgus 1.1% 2/185
Abnormality of the occipital bone 0.5% 1/185
Rhizomelic leg shortening 0.5% 1/185
Rhizomelic arm shortening 0.5% 1/185
Delayed eruption of primary teeth 1.1% 2/185
Central hypotonia 1.1% 2/185
Abnormal cervical curvature 0.5% 1/185
Broad thumb 1.6% 3/185
Kyphosis 0.5% 1/185
Widely spaced teeth 1.1% 2/185
Delayed eruption of permanent teeth 1.1% 2/185
Hypodontia 0.5% 1/185
Oligodontia 0.5% 1/185
Gingival overgrowth 0.5% 1/185
Carious teeth 0.5% 1/185
Thoracic scoliosis 0.5% 1/185
Coronal craniosynostosis 0.5% 1/185
Lambdoidal craniosynostosis 0.5% 1/185
Bilateral elbow dislocations 0.5% 1/185
Inguinal hernia 0.5% 1/185
Wide intermamillary distance 0.5% 1/185
Micrognathia 0.5% 1/185
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 0.5% 1/185
Skin / hair / nails    
Abnormality of the skin/hair/nails 95.8% 181/189
Low posterior hairline 11.6% 22/189
Sparse scalp hair 38.1% 72/189
Fine hair 2.1% 4/189
Hypertrichosis 60.8% 115/189
Prominent fingertip pads 13.8% 26/189
Hemangioma 1.1% 2/189
Low anterior hairline 30.2% 57/189
Wide intermamillary distance 4.8% 9/189
Generalized hypertrichosis 6.3% 12/189
Small nail 6.9% 13/189
Abnormal position of hair whorl 0.5% 1/189
Eczema 10.6% 20/189
Thick hair 19.0% 36/189
Hypoplastic fifth fingernail 24.3% 46/189
Hypoplastic toenails 6.3% 12/189
Hypoplastic fifth toenail 6.9% 13/189
Atopic dermatitis 5.3% 10/189
Abnormality of the distal phalanx of the 5th finger 0.5% 1/189
Short distal phalanx of finger 0.5% 1/189
Hypoplastic fingernail 4.8% 9/189
Urticaria 0.5% 1/189
Bilateral single transverse palmar creases 0.5% 1/189
Deep palmar crease 0.5% 1/189
Striae distensae 0.5% 1/189
Hyperextensible skin 0.5% 1/189
Cutis marmorata 1.6% 3/189
Sparse hair 1.1% 2/189
Excessive wrinkled skin 2.1% 4/189
Thin fingernail 1.1% 2/189
Thin toenail 0.5% 1/189
Thin nail 1.1% 2/189
Numerous nevi 1.1% 2/189
Cafe-au-lait spot 1.1% 2/189
Single transverse palmar crease 2.1% 4/189
Nevus 1.1% 2/189
Hirsutism 0.5% 1/189
Abnormality of the skin 0.5% 1/189
Aplasia/Hypoplasia of the nails 2.1% 4/189
Hyperpigmentation of the skin 0.5% 1/189
Depigmentation/hyperpigmentation of skin 0.5% 1/189
Thick eyebrow 0.5% 1/189
Alopecia 0.5% 1/189
Thoracic hypertrichosis 1.1% 2/189
Abnormality of the scalp hair 1.6% 3/189
Frontal hirsutism 0.5% 1/189
Webbed neck 0.5% 1/189
Thickened skin 1.1% 2/189
Abnormally lax or hyperextensible skin 1.1% 2/189
Neoplasm of the skin 0.5% 1/189
Hyperkeratosis 1.6% 3/189
Irregular hyperpigmentation 0.5% 1/189
Spotty hyperpigmentation 0.5% 1/189
Sacral dimple 1.1% 2/189
Facial hirsutism 0.5% 1/189
Melanocytic nevus 0.5% 1/189
Localized hirsutism 0.5% 1/189
Pallor 0.5% 1/189
Skin tags 0.5% 1/189
Hypopigmentation of the skin 1.1% 2/189
Clinodactyly of the 5th finger 0.5% 1/189
Localized skin lesion 0.5% 1/189
Premature skin wrinkling 0.5% 1/189
Absent fifth toenail 0.5% 1/189
Absent fifth fingernail 0.5% 1/189
Multiple cafe-au-lait spots 0.5% 1/189
Curly hair 0.5% 1/189
Increased body weight 0.5% 1/189
Congenital, generalized hypertrichosis 0.5% 1/189
Elbow hypertrichosis 0.5% 1/189
Facial hypertrichosis 0.5% 1/189
Polyhydramnios 0.5% 1/189
Abnormality of hair growth rate 0.5% 1/189
Slow-growing scalp hair 0.5% 1/189
Slow-growing nails 0.5% 1/189
Clinodactyly 0.5% 1/189
Short 5th finger 0.5% 1/189
Sacral hypertrichosis 0.5% 1/189
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 20.1% 27/134
Type II diabetes mellitus 1.5% 2/134
Growth hormone deficiency 6.0% 8/134
Hypothyroidism 9.0% 12/134
Congenital hypothyroidism 0.7% 1/134
Diabetes mellitus 1.5% 2/134
Puberty and gonadal disorders 0.7% 1/134
Gynecomastia 0.7% 1/134
Type I diabetes mellitus 0.7% 1/134
Compensated hypothyroidism 1.5% 2/134
Increased serum free triiodothyronine (fT3) 0.7% 1/134
Abnormality of thyroid physiology 0.7% 1/134
Central hypothyroidism 0.7% 1/134
Abnormality of the metabolic system 7.5% 10/134
Diabetes mellitus 0.7% 1/134
Hypercalciuria 0.7% 1/134
Hyperglycemia 0.7% 1/134
Hypomagnesemia 0.7% 1/134
Hypocalcemia 0.7% 1/134
Neonatal hypoglycemia 0.7% 1/134
Type I diabetes mellitus 0.7% 1/134
Hypercholesterolemia 1.5% 2/134
Anemia 0.7% 1/134
Vitamin B12 deficiency 0.7% 1/134
Hypercalcemia 0.7% 1/134
Abnormality of the immune system 35.8% 57/159
Recurrent otitis media 8.2% 13/159
Recurrent upper respiratory tract infections 8.2% 13/159
Recurrent infections 15.1% 24/159
Recurrent urinary tract infections 0.6% 1/159
Recurrent lower respiratory tract infections 1.9% 3/159
Conjunctivitis 0.6% 1/159
Recurrent upper and lower respiratory tract infections 0.6% 1/159
Bronchiolitis 0.6% 1/159
Allergy 1.3% 2/159
Decreased antibody level in blood 0.6% 1/159
Eosinophilia 0.6% 1/159
Recurrent respiratory infections 1.9% 3/159
Otitis media 0.6% 1/159
Recurrent bronchitis 0.6% 1/159
Eczema 0.6% 1/159
Respiratory infections in early life 0.6% 1/159
Recurrent bronchopulmonary infections 0.6% 1/159
Lymphopenia 0.6% 1/159
Panhypogammaglobulinemia 0.6% 1/159
Asthma 0.6% 1/159
Neoplasia    
Neoplasia 0.5% 1/191
Sertoli cell neoplasm 0.5% 1/191
Leydig cell neoplasia 0.5% 1/191
Brain neoplasm 0.5% 1/191