Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 2/4
Female 50.0% 2/4
Neurology    
Neurological abnormalities 100.0% 4/4
Aplasia/Hypoplasia of the cerebellar vermis 25.0% 1/4
Central hypotonia 25.0% 1/4
Congenital nystagmus 25.0% 1/4
Febrile seizures 25.0% 1/4
Microcephaly 25.0% 1/4
Behavioral problems 33.3% 1/3
Attention deficit hyperactivity disorder 33.3% 1/3
Brain abnormality 100.0% 3/3
Agenesis of corpus callosum 33.3% 1/3
Cerebellar vermis hypoplasia 33.3% 1/3
Partial agenesis of the corpus callosum 33.3% 1/3
Facial abnormalities    
Abnormality of the ear 75.0% 3/4
Abnormal location of ears 25.0% 1/4
Low-set, posteriorly rotated ears 25.0% 1/4
Abnormality of the eye 75.0% 3/4
Abnormality of the eyebrow 25.0% 1/4
Astigmatism 25.0% 1/4
Long eyelashes 25.0% 1/4
Small palpebral fissure 25.0% 1/4
Upslanted palpebral fissure 25.0% 1/4
Abnormality of the nose 50.0% 2/4
Bulbous nose 25.0% 1/4
Depressed nasal bridge 25.0% 1/4
Short philtrum 25.0% 1/4
Wide nose 25.0% 1/4
Abnormality of the mouth 100.0% 4/4
Thick upper lip vermilion 50.0% 2/4
Abnormality of the lip 25.0% 1/4
Aplasia/Hypoplasia of the maxilla 25.0% 1/4
Cleft palate 25.0% 1/4
High, narrow palate 25.0% 1/4
Micrognathia 25.0% 1/4
Visual and hearing impairments    
Abnormal hearing 66.7% 2/3
Bilateral sensorineural hearing impairment 33.3% 1/3
Low-frequency hearing loss 33.3% 1/3
Abnormal vision 100.0% 3/3
Myopia 66.7% 2/3
Astigmatism 33.3% 1/3
Heart    
Abnormality of the heart 25.0% 1/4
Abnormality of the ventricular septum 25.0% 1/4
Pulmonary artery stenosis 25.0% 1/4
Gastrointestinal    
Gastrointestinal abnormalities 25.0% 1/4
Enterocolitis 25.0% 1/4
Skeleton    
Skeletal abnormalities 100.0% 4/4
Abnormality of the hallux 25.0% 1/4
Absent epiphyses of the distal phalanges of the hand 25.0% 1/4
Aplasia/Hypoplasia of the patella 25.0% 1/4
Arachnodactyly 25.0% 1/4
Broad fingertip 25.0% 1/4
Scoliosis 25.0% 1/4
Short toe 25.0% 1/4
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 4/4
Coarse hair 50.0% 2/4
Sparse hair 50.0% 2/4
Generalized hirsutism 25.0% 1/4
Hypoplastic fifth toenail 25.0% 1/4
Low posterior hairline 25.0% 1/4
Narrow nail 25.0% 1/4
Thick eyebrow 25.0% 1/4
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 33.3% 1/3
Delayed puberty 33.3% 1/3