SMARCA4

Graph and Chart

Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 2/3
Female 33.3% 1/3
Indifferent 0% 0/3
Unknown 0% 0/3
General    
Birth Length abnormalities 0% 0/3
Birth Weight abnormalities 0% 0/3
Birth Head circumference abnormalities 0% 0/3
Current Height abnormalities 66.7% 2/3
< P3 : Short stature 66.7% 2/3
Current Weight abnormalities 100.0% 2/2
> P98 : Increased body weight 50.0% 1/2
< P3 : Decreased body weight 50.0% 1/2
Current Head circumference abnormalities 0% 0/3
Neurology    
Neurological abnormalities 33.3% 1/3
Generalized tonic-clonic seizures 33.3% 1/3
Neonatal hypotonia 33.3% 1/3
Seizures 33.3% 1/3
Behavioral problems 50.0% 1/2
Short attention span 50.0% 1/2
Brain abnormality 33.3% 1/3
Cerebral atrophy 33.3% 1/3
Cerebral hypoplasia 33.3% 1/3
Ventriculomegaly 33.3% 1/3
Facial abnormalities    
Abnormality of the ear 66.7% 2/3
Low-set ears 66.7% 2/3
Abnormality of the helix 33.3% 1/3
Microtia, first degree 33.3% 1/3
Abnormality of the eye 100.0% 3/3
Broad forehead 66.7% 2/3
Coarse facial features 33.3% 1/3
Coloboma 33.3% 1/3
Downslanted palpebral fissures 33.3% 1/3
Hypertelorism 33.3% 1/3
Short palpebral fissure 33.3% 1/3
Small palpebral fissure 33.3% 1/3
Abnormality of the nose 66.7% 2/3
Broad nasal tip 33.3% 1/3
Broad philtrum 33.3% 1/3
Short philtrum 33.3% 1/3
Thick nasal alae 33.3% 1/3
Wide nasal bridge 33.3% 1/3
Wide nose 33.3% 1/3
Abnormality of the mouth 66.7% 2/3
Thick upper lip vermilion 66.7% 2/3
Everted lower lip vermilion 33.3% 1/3
Thick lower lip vermilion 33.3% 1/3
Visual and hearing impairments    
Abnormal vision 33.3% 1/3
Myopia 33.3% 1/3
Heart    
Abnormality of the heart 33.3% 1/3
Aortic valve atresia 33.3% 1/3
Hypoplastic left heart 33.3% 1/3
Mitral regurgitation 33.3% 1/3
Neonatal respiratory distress 33.3% 1/3
Gastrointestinal    
Gastrointestinal abnormalities 66.7% 2/3
Abnormality of the diaphragm 33.3% 1/3
Congenital diaphragmatic hernia 33.3% 1/3
Diaphragmatic eventration 33.3% 1/3
Inguinal hernia 33.3% 1/3
Skeleton    
Skeletal abnormalities 66.7% 2/3
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 66.7% 2/3
Aplasia/Hypoplasia of the 4th toe 66.7% 2/3
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 66.7% 2/3
Aplasia/Hypoplasia of the middle phalanx of the 5th finger 33.3% 1/3
Aplasia/Hypoplasia of the 5th toe 33.3% 1/3
Aplasia/Hypoplasia of the 2nd toe 33.3% 1/3
Brachycephaly 33.3% 1/3
Broad distal phalanx of the toes 33.3% 1/3
Broad distal phalanx of finger 33.3% 1/3
Cleft palate 33.3% 1/3
Dental crowding 33.3% 1/3
Irregular dentition 33.3% 1/3
Laryngotracheomalacia 33.3% 1/3
Laryngomalacia 33.3% 1/3
Pectus carinatum 33.3% 1/3
Pectus excavatum 33.3% 1/3
Scoliosis 33.3% 1/3
Short 4th finger 33.3% 1/3
Short thumb 33.3% 1/3
Short 5th finger 33.3% 1/3
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 3/3
Absent fifth fingernail 33.3% 1/3
Absent fingernail 33.3% 1/3
Absent toenail 33.3% 1/3
Absent fifth toenail 33.3% 1/3
Congenital, generalized hypertrichosis 33.3% 1/3
Low anterior hairline 33.3% 1/3
Low posterior hairline 33.3% 1/3
Small nail 33.3% 1/3
Thick hair 33.3% 1/3
2nd-5th toe middle phalangeal hypoplasia 33.3% 1/3
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 33.3% 1/3
Hypothyroidism 33.3% 1/3
Abnormality of the immune system 66.7% 2/3
Otitis media 33.3% 1/3
Recurrent respiratory infections 33.3% 1/3
Recurrent infections 33.3% 1/3
Sepsis 33.3% 1/3