ALPK3

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
Indifferent 0% 0/7
Unknown 0% 0/7
General    
Birth Length abnormalities 14.3% 1/7
> P98 : Birth length greater than 97th percentile 14.3% 1/7
Birth Weight abnormalities 14.3% 1/7
< P3 : Small for gestational age 14.3% 1/7
Birth Head circumference abnormalities 14.3% 1/7
> P98 : Macrocephaly at birth 14.3% 1/7
Current Height abnormalities 57.1% 4/7
< P3 : Short stature 42.9% 3/7
> P98 : Tall stature 14.3% 1/7
Current Weight abnormalities 28.6% 2/7
< P3 : Decreased body weight 14.3% 1/7
> P98 : Increased body weight 14.3% 1/7
Current Head circumference abnormalities 14.3% 1/7
> P98 : Macrocephaly 14.3% 1/7
Neurology    
Neurological abnormalities 50.0% 2/4
Contractures of the joints of the lower limbs 25.0% 1/4
Distal arthrogryposis 25.0% 1/4
Generalized hypotonia 25.0% 1/4
Talipes 25.0% 1/4
Facial abnormalities    
Abnormality of the ear 33.3% 2/6
Low-set ears 33.3% 2/6
Abnormality of the eye 50.0% 3/6
Hypertelorism 33.3% 2/6
Unilateral ptosis 16.7% 1/6
Upslanted palpebral fissure 16.7% 1/6
Abnormality of the nose 16.7% 1/6
Wide nose 16.7% 1/6
Abnormality of the mouth 33.3% 2/6
Cleft palate 33.3% 2/6
Bifid uvula 16.7% 1/6
Velopharyngeal insufficiency 16.7% 1/6
Heart    
Abnormality of the heart 100.0% 7/7
Dilated cardiomyopathy 71.4% 5/7
Biventricular hypertrophy 42.9% 3/7
Prolonged QTc interval 28.6% 2/7
Atrioventricular block 14.3% 1/7
Left ventricular hypertrophy 14.3% 1/7
Persistent left superior vena cava 14.3% 1/7
Secundum atrial septal defect 14.3% 1/7
Sinus bradycardia 14.3% 1/7
Ventricular fibrillation 14.3% 1/7
Ventricular extrasystoles 14.3% 1/7
Skeleton    
Skeletal abnormalities 33.3% 2/6
Abnormality of the distal phalanges of the toes 16.7% 1/6
Aplasia/Hypoplasia of the phalanges of the thumb 16.7% 1/6
Kyphoscoliosis 16.7% 1/6