KCNN3

Graph & Charts

Patient Overview : 7

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 28.6% 2/7
Female 71.4% 5/7
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
> P98 : Large for gestational age 14.3% 1/7
Birth Head circumference abnormalities 28.6% 2/7
> P98 : Macrocephaly at birth 28.6% 2/7
Current Height abnormalities 14.3% 1/7
> P98 : Tall stature 14.3% 1/7
Current Weight abnormalities 28.6% 2/7
> P98 : Increased body weight 14.3% 1/7
< P3 : Decreased body weight 14.3% 1/7
Current Head circumference abnormalities 28.6% 2/7
> P98 : Macrocephaly 28.6% 2/7
Neurology    
Neurological abnormalities 85.7% 6/7
Muscular hypotonia 42.9% 3/7
Brisk reflexes 14.3% 1/7
Delayed speech and language development 14.3% 1/7
Generalized hypotonia 14.3% 1/7
Hypertonia 14.3% 1/7
Hyporeflexia 14.3% 1/7
Lower limb hypertonia 14.3% 1/7
Neurodevelopmental delay 14.3% 1/7
Seizures 14.3% 1/7
Toe walking 14.3% 1/7
Behavioral problems 28.6% 2/7
Hallucinations 14.3% 1/7
Psychotic episodes 14.3% 1/7
Brain abnormality 33.3% 2/6
Agenesis of corpus callosum 16.7% 1/6
Ventriculomegaly 16.7% 1/6
Facial abnormalities    
Abnormality of the ear 42.9% 3/7
Abnormality of the pinna 14.3% 1/7
Cupped ear 14.3% 1/7
Long ear 14.3% 1/7
Protruding ear 14.3% 1/7
Squared superior portion of helix 14.3% 1/7
Uplifted earlobe 14.3% 1/7
Abnormality of the eye 42.9% 3/7
Downslanted palpebral fissures 14.3% 1/7
Epicanthus 14.3% 1/7
Hypertelorism 14.3% 1/7
Periorbital fullness 14.3% 1/7
Abnormality of the nose 85.7% 6/7
Broad nasal tip 57.1% 4/7
Depressed nasal bridge 28.6% 2/7
Prominent nose 28.6% 2/7
Anteverted nares 14.3% 1/7
Bulbous nose 14.3% 1/7
Thick nasal alae 14.3% 1/7
Wide nasal base 14.3% 1/7
Wide nasal bridge 14.3% 1/7
Abnormality of the mouth 85.7% 6/7
Gingival overgrowth 57.1% 4/7
High palate 42.9% 3/7
Thick vermilion border 42.9% 3/7
Thick lower lip vermilion 28.6% 2/7
Long philtrum 14.3% 1/7
Misalignment of teeth 14.3% 1/7
Retrognathia 14.3% 1/7
Visual and hearing impairments    
Abnormal hearing 14.3% 1/7
Hyperacusis 14.3% 1/7
Abnormal vision 42.9% 3/7
Abnormality of the optic disc 14.3% 1/7
Hypermetropia 14.3% 1/7
Strabismus 14.3% 1/7
Heart    
Abnormality of the heart 57.1% 4/7
Patent ductus arteriosus 42.9% 3/7
Abnormality of the left ventricle 14.3% 1/7
Abnormality of the coronary arteries 14.3% 1/7
Gastrointestinal    
Gastrointestinal abnormalities 28.6% 2/7
Episodic vomiting 14.3% 1/7
Microcolon 14.3% 1/7
Urogenital    
Abnormality of the urogenital system 14.3% 1/7
Hypospadias 14.3% 1/7
Skeleton    
Skeletal abnormalities 100.0% 7/7
Long hallux 28.6% 2/7
Shortening of all distal phalanges of the fingers 28.6% 2/7
Short distal phalanx of finger 28.6% 2/7
Shortening of all distal phalanges of the toes 28.6% 2/7
Tapered finger 28.6% 2/7
Abnormality of the distal phalanx of the hallux 14.3% 1/7
Absent distal phalanx of the 2nd toe 14.3% 1/7
Aplasia/Hypoplasia of the phalanges of the hand 14.3% 1/7
Aplasia of the distal phalanx of the 5th toe 14.3% 1/7
Aplasia/Hypoplasia of the distal phalanges of the hand 14.3% 1/7
Broad hallux 14.3% 1/7
Clinodactyly 14.3% 1/7
Flexion contracture 14.3% 1/7
Hypoplasia of the phalanges of the toes 14.3% 1/7
Short metacarpal 14.3% 1/7
Thoracolumbar kyphoscoliosis 14.3% 1/7
Triphalangeal thumb 14.3% 1/7
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 7/7
Hypoplastic fingernail 71.4% 5/7
Absent toenail 42.9% 3/7
Long eyelashes 42.9% 3/7
Low anterior hairline 42.9% 3/7
Synophrys 42.9% 3/7
Absent thumbnail 28.6% 2/7
Facial hypertrichosis 28.6% 2/7
Hypertrichosis 28.6% 2/7
Hypoplastic toenails 28.6% 2/7
Prominent eyelashes 28.6% 2/7
Small nail 28.6% 2/7
Thick hair 28.6% 2/7
Abnormal palmar dermatoglyphics 14.3% 1/7
Absent fifth fingernail 14.3% 1/7
Aplastic/hypoplastic toenail 14.3% 1/7
Concave nail 14.3% 1/7
Hypoplastic thumbnail 14.3% 1/7
Low posterior hairline 14.3% 1/7
Soft skin 14.3% 1/7
Supernumerary nipple 14.3% 1/7
Thick eyebrow 14.3% 1/7
Thoracic hypertrichosis 14.3% 1/7