FAM149B1

Graph and Chart

Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 4/4
Female 0% 0/4
Neurology    
Neurological abnormalities 50.0% 2/4
Generalized hypotonia 25.0% 1/4
Seizures 25.0% 1/4
Brain abnormality 75.0% 3/4
Molar tooth sign on MRI 50.0% 2/4
Dilation of lateral ventricles 25.0% 1/4
Macrocephaly 25.0% 1/4
Facial abnormalities    
Abnormality of the eye 100.0% 4/4
Strabismus 100.0% 4/4
Ptosis 100.0% 4/4
Oculomotor apraxia 100.0% 4/4
Abnormality of the nose 25.0% 1/4
Abnormality of the nose 25.0% 1/4
Anteverted nares 25.0% 1/4
Highly arched eyebrow 25.0% 1/4
Abnormality of the mouth 50.0% 2/4
Open mouth 25.0% 1/4
Median cleft lip 25.0% 1/4
Visual and hearing impairments    
Abnormal hearing 25.0% 1/4
Sensorineural hearing impairment 25.0% 1/4
Heart    
Abnormality of the heart 25.0% 1/4
Abnormal heart morphology 25.0% 1/4
Skeleton    
Skeletal abnormalities 100.0% 4/4
Mesoaxial polydactyly 25.0% 1/4
Polydactyly 50.0% 2/4
Y-shaped metacarpals 25.0% 1/4
Narrow chest 25.0% 1/4
Superior pectus carinatum 25.0% 1/4
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 50.0% 2/4
Abnormality of hair texture 50.0% 2/4