YY1

Graph and Chart

Patient Overview : 17

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 41.2% 7/17
Female 58.8% 10/17
Indifferent 0% 0/17
Unknown 0% 0/17
General    
Birth Length abnormalities 28.6% 2/7
< P3 : Birth length less than 3rd percentile 14.3% 1/7
> P98 : Birth length greater than 97th percentile 14.3% 1/7
Birth Weight abnormalities 20.0% 3/15
< P3 : Small for gestational age 13.3% 2/15
> P98 : Large for gestational age 6.7% 1/15
Birth Head circumference abnormalities 16.7% 1/6
> P98 : Macrocephaly at birth 16.7% 1/6
Current Height abnormalities 18.8% 3/16
< P3 : Short stature 12.5% 2/16
> P98 : Tall stature 6.3% 1/16
Current Weight abnormalities 33.3% 5/15
< P3 : Decreased body weight 20.0% 3/15
> P98 : Increased body weight 13.3% 2/15
Current Head circumference abnormalities 11.1% 2/18
< P3 : Microcephaly 11.1% 2/18
Neurology    
Neurological abnormalities 68.8% 11/16
Muscular hypotonia 18.8% 3/16
Dystonia 12.5% 2/16
Delayed speech and language development 6.3% 1/16
Delayed fine motor development 6.3% 1/16
Distal lower limb amyotrophy 6.3% 1/16
Febrile seizures 6.3% 1/16
Generalized tonic seizures 6.3% 1/16
Macrocephaly 6.3% 1/16
Neonatal hypotonia 6.3% 1/16
Specific learning disability 6.3% 1/16
Toe walking 6.3% 1/16
Tremor 6.3% 1/16
Unsteady gait 6.3% 1/16
Waddling gait 6.3% 1/16
Behavioral problems 58.8% 10/17
Attention deficit hyperactivity disorder 17.6% 3/17
Anxiety 11.8% 2/17
Autism 11.8% 2/17
Sleep disturbance 11.8% 2/17
Low frustration tolerance 5.9% 1/17
Short attention span 5.9% 1/17
Stereotypic behavior 5.9% 1/17
Brain abnormality 53.8% 7/13
Abnormality of lateral ventricle 7.7% 1/13
Abnormality of the cerebral ventricles 7.7% 1/13
Cerebral white matter atrophy 7.7% 1/13
Cortical dysplasia 7.7% 1/13
Delayed myelination 7.7% 1/13
Dilation of lateral ventricles 7.7% 1/13
Encephalomalacia 7.7% 1/13
Focal white matter lesions 7.7% 1/13
Gliosis 7.7% 1/13
Widened subarachnoid space 7.7% 1/13
Facial abnormalities    
Abnormality of the ear 87.5% 14/16
Abnormality of the pinna 43.8% 7/16
Posteriorly rotated ears 43.8% 7/16
Low-set ears 12.5% 2/16
Protruding ear 12.5% 2/16
Abnormality of cartilage of external ear 6.3% 1/16
Attached earlobe 6.3% 1/16
Abnormality of the eye 70.6% 12/17
Downslanted palpebral fissures 29.4% 5/17
Strabismus 29.4% 5/17
Deeply set eye 5.9% 1/17
Epicanthus 5.9% 1/17
Myopia 5.9% 1/17
Periorbital fullness 5.9% 1/17
Prominent epicanthal folds 5.9% 1/17
Ptosis 5.9% 1/17
Telecanthus 5.9% 1/17
Abnormality of the nose 58.8% 10/17
Bulbous nose 47.1% 8/17
Wide nose 5.9% 1/17
Abnormality of the mouth 82.4% 14/17
Thick lower lip vermilion 47.1% 8/17
Abnormality of upper lip 29.4% 5/17
Abnormality of the teeth 11.8% 2/17
Abnormality of lower lip 5.9% 1/17
Downturned corners of mouth 5.9% 1/17
Micrognathia 5.9% 1/17
Narrow mouth 5.9% 1/17
Paramedian lip pit 5.9% 1/17
Retrognathia 5.9% 1/17
Submucous cleft soft palate 5.9% 1/17
Thick upper lip vermilion 5.9% 1/17
Thin upper lip vermilion 5.9% 1/17
Velopharyngeal insufficiency 5.9% 1/17
Visual and hearing impairments    
Abnormal vision 25.0% 4/16
Hypermetropia 12.5% 2/16
Astigmatism 6.3% 1/16
Myopia 6.3% 1/16
Nystagmus 6.3% 1/16
Strabismus 6.3% 1/16
Heart    
Abnormality of the heart 25.0% 4/16
Atria septal defect 6.3% 1/16
Congenital malformation of the great arteries 6.3% 1/16
Ebstein's anomaly of the tricuspid valve 6.3% 1/16
Mitral regurgitation 6.3% 1/16
Patent foramen ovale 6.3% 1/16
Pulmonary artery stenosis 6.3% 1/16
Sinus tachycardia 6.3% 1/16
Ventricular septal defect 6.3% 1/16
Gastrointestinal    
Gastrointestinal abnormalities 70.6% 12/17
Feeding difficulties 52.9% 9/17
Abnormality of the esophagus 5.9% 1/17
Chewing difficulties 5.9% 1/17
Dysphagia 5.9% 1/17
Esophageal atresia 5.9% 1/17
Feeding difficulties in infancy 5.9% 1/17
Gastrostomy tube feeding in infancy 5.9% 1/17
Hepatic fibrosis 5.9% 1/17
Urogenital    
Abnormality of the urogenital system 28.6% 4/14
Hydronephrosis 21.4% 3/14
Bilateral cryptorchidism 7.1% 1/14
Coronal hypospadias 7.1% 1/14
Ureteral stenosis 7.1% 1/14
Skeleton    
Skeletal abnormalities 64.7% 11/17
Increased laxity of fingers 11.8% 2/17
Long fingers 11.8% 2/17
Camptodactyly of finger 5.9% 1/17
Clinodactyly of the 5th finger 5.9% 1/17
Distal arthrogryposis 5.9% 1/17
Distal lower limb amyotrophy 5.9% 1/17
Generalized joint laxity 5.9% 1/17
Hallux valgus 5.9% 1/17
Hip dysplasia 5.9% 1/17
Joint hypermobility 5.9% 1/17
Lumbar hyperlordosis 5.9% 1/17
Patellar subluxation 5.9% 1/17
Pectus excavatum 5.9% 1/17
Pes planus 5.9% 1/17
Sandal gap 5.9% 1/17
Scoliosis 5.9% 1/17
Thoracolumbar scoliosis 5.9% 1/17
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 47.1% 8/17
Abnormality of hair texture 5.9% 1/17
Facial hirsutism 5.9% 1/17
Few cafe-au-lait spots 5.9% 1/17
Frontal upsweep of hair 5.9% 1/17
Hyperextensible skin 5.9% 1/17
Soft skin 5.9% 1/17
Striae distensae 5.9% 1/17
Sydney crease 5.9% 1/17
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 43.8% 7/16
Hypothyroidism 12.5% 2/16
Congenital hypothyroidism 6.3% 1/16
Diabetes mellitus 6.3% 1/16
Growth hormone deficiency 6.3% 1/16
Hyperthyroidism 6.3% 1/16
Polycystic ovaries 6.3% 1/16
Precocious puberty in females 6.3% 1/16
Abnormality of the metabolic system 6.3% 1/16
Childhood-onset truncal obesity 6.3% 1/16
Sleep apnea 6.3% 1/16
Abnormality of the immune system 12.5% 2/16
Recurrent infections 12.5% 2/16
Neoplasia    
Neoplasia 5.9% 1/17
Neuroblastoma 5.9% 1/17