ALX1

Graph and Chart

Patient Overview : 6

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 33.3% 2/6
Female 66.7% 4/6
Neurology    
Neurological abnormalities 16.7% 1/6
Delayed myelination 16.7% 1/6
Brain abnormality 50.0% 1/2
Delayed myelination 50.0% 1/2
Abnormality of the corpus callosum 50.0% 1/2
Abnormality of the cerebellar vermis 50.0% 1/2
Facial abnormalities    
Abnormality of the ear 33.3% 2/6
Low-set ears 33.3% 2/6
Abnormality of the eye 100.0% 6/6
Bilateral microphthalmos 33.3% 2/6
Upper eyelid coloboma 33.3% 2/6
Sparse eyelashes 33.3% 2/6
Absent eyebrow 33.3% 2/6
Hypertelorism 33.3% 2/6
Bilateral ptosis 66.7% 4/6
Upslanted palpebral fissure 66.7% 4/6
Blepharophimosis 66.7% 4/6
Abnormality of the nose 100.0% 6/6
Wide nasal base 83.3% 5/6
Underdeveloped nasal alae 33.3% 2/6
Prominent glabella 16.7% 1/6
Wide nasal bridge 83.3% 5/6
Broad columella 66.7% 4/6
Abnormality of the mouth 100.0% 6/6
Bilateral cleft lip 33.3% 2/6
Cleft palate 33.3% 2/6
Prominent glabella 16.7% 1/6
Smooth philtrum 66.7% 4/6
Mandibular prognathia 66.7% 4/6
Visual and hearing impairments    
Abnormal vision 20.0% 1/5
Aplasia/Hypoplasia of the optic nerve 20.0% 1/5
Skeleton    
Skeletal abnormalities 100.0% 2/2
Caudal appendage 50.0% 1/2
Abnormality of the frontal bone 100.0% 2/2
Brachycephaly 50.0% 1/2
Posterior plagiocephaly 50.0% 1/2