LARP7

Graph and Chart

Patient Overview : 11

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 54.5% 6/11
Female 45.5% 5/11
Indifferent 0% 0/11
Unknown 0% 0/11
General    
Birth Length abnormalities 0% 0/2
Birth Weight abnormalities 50.0% 1/2
< P3 : Small for gestational age 50.0% 1/2
Birth Head circumference abnormalities 0% 0/2
Current Height abnormalities 100.0% 10/10
< P3 : Short stature 100.0% 10/10
Current Weight abnormalities 100.0% 10/10
< P3 : Decreased body weight 100.0% 10/10
Current Head circumference abnormalities 100.0% 10/10
< P3 : Microcephaly 100.0% 10/10
Neurology    
Neurological abnormalities 100.0% 2/2
Delayed speech and language development 50.0% 1/2
Fatigable weakness of swallowing muscles 50.0% 1/2
Global developmental delay 50.0% 1/2
Intellectual disability, severe 50.0% 1/2
Severe expressive language delay 50.0% 1/2
Behavioral problems 75.0% 3/4
Self-mutilation 50.0% 2/4
Stereotypic behavior 25.0% 1/4
Facial abnormalities    
Abnormality of the ear 63.6% 7/11
Low-set ears 54.5% 6/11
Low-set, posteriorly rotated ears 9.1% 1/11
Posteriorly rotated ears 9.1% 1/11
Abnormality of the eye 100.0% 11/11
Deeply set eye 81.8% 9/11
Short palpebral fissure 63.6% 7/11
Small palpebral fissure 63.6% 7/11
Sparse eyebrow 63.6% 7/11
Strabismus 36.4% 4/11
Blepharophimosis 18.2% 2/11
Hypertelorism 9.1% 1/11
Long eyelashes 9.1% 1/11
Sparse lateral eyebrow 9.1% 1/11
Upslanted palpebral fissure 9.1% 1/11
Abnormality of the nose 100.0% 11/11
Wide nose 90.9% 10/11
Bulbous nose 9.1% 1/11
Hypoplasia of teeth 9.1% 1/11
Widely spaced teeth 9.1% 1/11
Abnormality of the mouth 100.0% 11/11
Short philtrum 81.8% 9/11
Wide mouth 81.8% 9/11
Widely spaced teeth 72.7% 8/11
Everted upper lip vermilion 9.1% 1/11
Open mouth 9.1% 1/11
Tented upper lip vermilion 9.1% 1/11
Thick lower lip vermilion 9.1% 1/11
Thick upper lip vermilion 9.1% 1/11
Visual and hearing impairments    
Abnormal vision 50.0% 1/2
Strabismus 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 2/2
Bowel incontinence 50.0% 1/2
Constipation 50.0% 1/2
Urinary incontinence 50.0% 1/2
Urogenital    
Abnormality of the urogenital system 33.3% 1/3
Retractile testis 33.3% 1/3
Skeleton    
Skeletal abnormalities 81.8% 9/11
Abnormality of malar bones 72.7% 8/11
Achilles tendon contracture 9.1% 1/11
Clinodactyly of the 2nd toe 9.1% 1/11
Kyphoscoliosis 9.1% 1/11
Scoliosis 9.1% 1/11
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 36.4% 4/11
Thickened skin 36.4% 4/11
Abnormality of malar bones 9.1% 1/11
Achilles tendon contracture 9.1% 1/11
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 9.1% 1/11
Proportionate short stature 9.1% 1/11