YY1

Graph and Chart

Patient Overview : 19

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 42.1% 8/19
Female 57.9% 11/19
Indifferent 0% 0/19
Unknown 0% 0/19
General    
Birth Length abnormalities 22.2% 2/9
< P3 : Birth length less than 3rd percentile 11.1% 1/9
> P98 : Birth length greater than 97th percentile 11.1% 1/9
Birth Weight abnormalities 23.5% 4/17
< P3 : Small for gestational age 17.6% 3/17
> P98 : Large for gestational age 5.9% 1/17
Birth Head circumference abnormalities 12.5% 1/8
> P98 : Macrocephaly at birth 12.5% 1/8
Current Height abnormalities 27.8% 5/18
< P3 : Short stature 22.2% 4/18
> P98 : Tall stature 5.6% 1/18
Current Weight abnormalities 41.2% 7/17
< P3 : Decreased body weight 29.4% 5/17
> P98 : Increased body weight 11.8% 2/17
Current Head circumference abnormalities 10.0% 2/20
< P3 : Microcephaly 10.0% 2/20
Neurology    
Neurological abnormalities 72.2% 13/18
Dystonia 16.7% 3/18
Muscular hypotonia 16.7% 3/18
Delayed fine motor development 5.6% 1/18
Delayed speech and language development 5.6% 1/18
Distal lower limb amyotrophy 5.6% 1/18
Entrapment neuropathy 5.6% 1/18
Febrile seizures 5.6% 1/18
Generalized tonic seizures 5.6% 1/18
Macrocephaly 5.6% 1/18
Neonatal hypotonia 5.6% 1/18
Seizures 5.6% 1/18
Specific learning disability 5.6% 1/18
Stridor 5.6% 1/18
Toe walking 5.6% 1/18
Torticollis 5.6% 1/18
Tremor 5.6% 1/18
Unsteady gait 5.6% 1/18
Waddling gait 5.6% 1/18
Behavioral problems 61.1% 11/18
Anxiety 16.7% 3/18
Attention deficit hyperactivity disorder 16.7% 3/18
Autism 11.1% 2/18
Sleep disturbance 11.1% 2/18
Global developmental delay 5.6% 1/18
Low frustration tolerance 5.6% 1/18
Short attention span 5.6% 1/18
Stereotypic behavior 5.6% 1/18
Brain abnormality 50.0% 7/14
Abnormality of lateral ventricle 7.1% 1/14
Abnormality of the cerebral ventricles 7.1% 1/14
Cerebral white matter atrophy 7.1% 1/14
Cortical dysplasia 7.1% 1/14
Delayed myelination 7.1% 1/14
Dilation of lateral ventricles 7.1% 1/14
Encephalomalacia 7.1% 1/14
Focal white matter lesions 7.1% 1/14
Gliosis 7.1% 1/14
Widened subarachnoid space 7.1% 1/14
Facial abnormalities    
Abnormality of the ear 83.3% 15/18
Abnormality of the pinna 38.9% 7/18
Posteriorly rotated ears 38.9% 7/18
Low-set ears 16.7% 3/18
Protruding ear 16.7% 3/18
Abnormality of cartilage of external ear 5.6% 1/18
Attached earlobe 5.6% 1/18
Abnormality of the eye 73.7% 14/19
Downslanted palpebral fissures 26.3% 5/19
Strabismus 26.3% 5/19
Deeply set eye 5.3% 1/19
Epicanthus 5.3% 1/19
Myopia 5.3% 1/19
Periorbital fullness 5.3% 1/19
Prominent epicanthal folds 5.3% 1/19
Ptosis 5.3% 1/19
Short palpebral fissure 5.3% 1/19
Telecanthus 5.3% 1/19
Upslanted palpebral fissure 5.3% 1/19
Abnormality of the nose 63.2% 12/19
Bulbous nose 42.1% 8/19
Broad nasal tip 5.3% 1/19
Triangular nasal tip 5.3% 1/19
Wide nose 5.3% 1/19
Abnormality of the mouth 84.2% 16/19
Thick lower lip vermilion 47.4% 9/19
Abnormality of upper lip 26.3% 5/19
Abnormality of the teeth 10.5% 2/19
Narrow mouth 10.5% 2/19
Thin upper lip vermilion 10.5% 2/19
Abnormality of lower lip 5.3% 1/19
Downturned corners of mouth 5.3% 1/19
Macrodontia 5.3% 1/19
Micrognathia 5.3% 1/19
Misalignment of teeth 5.3% 1/19
Narrow palate 5.3% 1/19
Paramedian lip pit 5.3% 1/19
Retrognathia 5.3% 1/19
Smooth philtrum 5.3% 1/19
Submucous cleft soft palate 5.3% 1/19
Thick upper lip vermilion 5.3% 1/19
Velopharyngeal insufficiency 5.3% 1/19
Visual and hearing impairments    
Abnormal hearing 11.1% 2/18
Conductive hearing impairment 5.6% 1/18
Hearing impairment 5.6% 1/18
Abnormal vision 27.8% 5/18
Hypermetropia 11.1% 2/18
Astigmatism 5.6% 1/18
Chorioretinitis 5.6% 1/18
Myopia 5.6% 1/18
Nystagmus 5.6% 1/18
Strabismus 5.6% 1/18
Heart    
Abnormality of the heart 27.8% 5/18
Atria septal defect 5.6% 1/18
Cardiomyopathy 5.6% 1/18
Congenital malformation of the great arteries 5.6% 1/18
Ebstein's anomaly of the tricuspid valve 5.6% 1/18
Generalized amyloid deposition 5.6% 1/18
Mitral regurgitation 5.6% 1/18
Patent foramen ovale 5.6% 1/18
Pulmonary artery stenosis 5.6% 1/18
Sinus tachycardia 5.6% 1/18
Ventricular septal defect 5.6% 1/18
Pulmonary    
Abnormality of the lungs 50.0% 1/2
Breathing dysregulation 50.0% 1/2
Pneumonia 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 72.2% 13/18
Feeding difficulties 55.6% 10/18
Abnormality of the esophagus 5.6% 1/18
Chewing difficulties 5.6% 1/18
Dysphagia 5.6% 1/18
Esophageal atresia 5.6% 1/18
Feeding difficulties in infancy 5.6% 1/18
Gastrostomy tube feeding in infancy 5.6% 1/18
Hepatic fibrosis 5.6% 1/18
Urogenital    
Abnormality of the urogenital system 25.0% 4/16
Hydronephrosis 18.8% 3/16
Bilateral cryptorchidism 6.3% 1/16
Coronal hypospadias 6.3% 1/16
Ureteral stenosis 6.3% 1/16
Skeleton    
Skeletal abnormalities 68.4% 13/19
Increased laxity of fingers 10.5% 2/19
Long fingers 10.5% 2/19
Scoliosis 10.5% 2/19
Abnormality of the thumb 5.3% 1/19
Abnormality of the rib cage 5.3% 1/19
Aplasia/hypoplasia of the femur 5.3% 1/19
Arachnodactyly 5.3% 1/19
Breast hypoplasia 5.3% 1/19
Camptodactyly 5.3% 1/19
Camptodactyly of finger 5.3% 1/19
Clinodactyly of the 5th finger 5.3% 1/19
Distal lower limb amyotrophy 5.3% 1/19
Distal arthrogryposis 5.3% 1/19
Generalized joint laxity 5.3% 1/19
Hallux valgus 5.3% 1/19
Hip dysplasia 5.3% 1/19
Hypoplastic labia majora 5.3% 1/19
Joint hypermobility 5.3% 1/19
Lumbar hyperlordosis 5.3% 1/19
Patellar subluxation 5.3% 1/19
Pectus excavatum 5.3% 1/19
Pectus carinatum 5.3% 1/19
Pes planus 5.3% 1/19
Sandal gap 5.3% 1/19
Thoracolumbar scoliosis 5.3% 1/19
Thoracolumbar kyphoscoliosis 5.3% 1/19
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 47.4% 9/19
Abnormality of hair texture 5.3% 1/19
Facial hirsutism 5.3% 1/19
Few cafe-au-lait spots 5.3% 1/19
Frontal upsweep of hair 5.3% 1/19
Hyperextensible skin 5.3% 1/19
Hypoplastic nipples 5.3% 1/19
Soft skin 5.3% 1/19
Striae distensae 5.3% 1/19
Sydney crease 5.3% 1/19
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 38.9% 7/18
Hypothyroidism 11.1% 2/18
Congenital hypothyroidism 5.6% 1/18
Diabetes mellitus 5.6% 1/18
Growth hormone deficiency 5.6% 1/18
Hyperthyroidism 5.6% 1/18
Polycystic ovaries 5.6% 1/18
Precocious puberty in females 5.6% 1/18
Abnormality of the metabolic system 5.6% 1/18
Childhood-onset truncal obesity 5.6% 1/18
Sleep apnea 5.6% 1/18
Abnormality of the immune system 11.1% 2/18
Recurrent infections 11.1% 2/18
Neoplasia    
Neoplasia 5.3% 1/19
Neuroblastoma 5.3% 1/19