SPOP LoF

Graph and Chart

Patient Overview : 7

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 42.9% 3/7
Female 57.1% 4/7
Neurology    
Neurological abnormalities 85.7% 6/7
Neonatal hypotonia 28.6% 2/7
Seizures 28.6% 2/7
Sleep apnea 28.6% 2/7
Central hypotonia 14.3% 1/7
Chorea 14.3% 1/7
Dystonia 14.3% 1/7
Hemiparesis 14.3% 1/7
Hypertonia 14.3% 1/7
Migraine 14.3% 1/7
Behavioral problems 100.0% 6/6
Overfriendliness 33.3% 2/6
Abnormal emotion/affect behavior 16.7% 1/6
Agitation 16.7% 1/6
Anxiety 16.7% 1/6
Attention deficit hyperactivity disorder 16.7% 1/6
Autism 16.7% 1/6
Self-injurious behavior 16.7% 1/6
Brain abnormality 50.0% 3/6
Ventriculomegaly 33.3% 2/6
Corpus callosum atrophy 16.7% 1/6
Cortical gyral simplification 16.7% 1/6
Widened subarachnoid space 16.7% 1/6
Facial abnormalities    
Abnormality of the ear 71.4% 5/7
Low-set ears 28.6% 2/7
Abnormality of the pinna 14.3% 1/7
Low-set, posteriorly rotated ears 14.3% 1/7
Protruding ear 14.3% 1/7
Thickened helices 14.3% 1/7
Abnormality of the eye 100.0% 7/7
Hypertelorism 57.1% 4/7
Deeply set eye 28.6% 2/7
Highly arched eyebrow 28.6% 2/7
Sparse eyebrow 28.6% 2/7
Abnormal shape of the palpebral fissure 14.3% 1/7
Downslanted palpebral fissures 14.3% 1/7
Epicanthus 14.3% 1/7
Long palpebral fissure 14.3% 1/7
Synophrys 14.3% 1/7
Telecanthus 14.3% 1/7
Underdeveloped supraorbital ridges 14.3% 1/7
Unilateral narrow palpebral fissure 14.3% 1/7
Abnormality of the nose 85.7% 6/7
Prominent nasal tip 42.9% 3/7
Depressed nasal bridge 28.6% 2/7
Wide nasal bridge 28.6% 2/7
Anteverted nares 14.3% 1/7
Broad nasal tip 14.3% 1/7
Prominent nose 14.3% 1/7
Short nose 14.3% 1/7
Underdeveloped nasal alae 14.3% 1/7
Abnormality of the mouth 85.7% 6/7
Pointed chin 28.6% 2/7
Smooth philtrum 28.6% 2/7
Abnormality of the gingiva 14.3% 1/7
Bilateral cleft lip 14.3% 1/7
High palate 14.3% 1/7
Thin vermilion border 14.3% 1/7
Visual and hearing impairments    
Abnormal hearing 28.6% 2/7
Bilateral sensorineural hearing impairment 14.3% 1/7
Hearing impairment 14.3% 1/7
Abnormal vision 71.4% 5/7
Abnormality of refraction 28.6% 2/7
Abnormality of the optic disc 14.3% 1/7
Aplasia/Hypoplasia of the optic nerve 14.3% 1/7
Strabismus 14.3% 1/7
Heart    
Abnormality of the heart 57.1% 4/7
Atria septal defect 28.6% 2/7
Ventricular septal defect 28.6% 2/7
Abnormality of the left ventricular outflow tract 14.3% 1/7
Bicuspid aortic valve 14.3% 1/7
Coarctation of the descending aortic arch 14.3% 1/7
Hypoplastic left heart 14.3% 1/7
Persistent patent ductus venosus 14.3% 1/7
Right ventricular outlet obstruction 14.3% 1/7
Supravalvular aortic stenosis 14.3% 1/7
Gastrointestinal    
Gastrointestinal abnormalities 57.1% 4/7
Failure to thrive 28.6% 2/7
Gastroesophageal reflux 28.6% 2/7
Chronic constipation 14.3% 1/7
Urogenital    
Abnormality of the urogenital system 42.9% 3/7
Hypogonadism 14.3% 1/7
Multicystic kidney dysplasia 14.3% 1/7
Vesicoureteral reflux 14.3% 1/7
Skeleton    
Skeletal abnormalities 42.9% 3/7
Clinodactyly of the 5th finger 28.6% 2/7
Brachycephaly 14.3% 1/7
Broad hallux 14.3% 1/7
Pes cavus 14.3% 1/7
Scoliosis 14.3% 1/7
Short foot 14.3% 1/7
Tapered finger 14.3% 1/7
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 14.3% 1/7
Eczema 14.3% 1/7
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 14.3% 1/7
Abnormal bleeding 14.3% 1/7
Decreased serum testosterone level 14.3% 1/7
Osteoporosis 14.3% 1/7
Abnormality of the metabolic system 42.9% 3/7
Hypothyroidism 28.6% 2/7
Jaundice 14.3% 1/7
Vitamin D deficiency 14.3% 1/7