TRMT1

Graph and Chart

Patient Overview : 1

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/1
Female 100.0% 1/1
Indifferent 0% 0/1
Unknown 0% 0/1
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 0% 0/1
Birth Head circumference abnormalities 100.0% 1/1
< P3 : Congenital microcephaly 100.0% 1/1
Current Height abnormalities 100.0% 1/1
< P3 : Short stature 100.0% 1/1
Current Weight abnormalities 100.0% 1/1
< P3 : Decreased body weight 100.0% 1/1
Current Head circumference abnormalities 100.0% 1/1
< P3 : Microcephaly 100.0% 1/1
Neurology    
Neurological abnormalities 100.0% 1/1
Epileptic spasms 100.0% 1/1
Generalized hypotonia 100.0% 1/1
Generalized hyperreflexia 100.0% 1/1
Brain abnormality 100.0% 1/1
Abnormality of lateral ventricle 100.0% 1/1
Abnormality of thalamus morphology 100.0% 1/1
Aplasia/Hypoplasia of the corpus callosum 100.0% 1/1
Lobar holoprosencephaly 100.0% 1/1
Facial abnormalities    
Abnormality of the ear 100.0% 1/1
Protruding ear 100.0% 1/1
Abnormality of the eye 100.0% 1/1
Hypotelorism 100.0% 1/1
Medial flaring of the eyebrow 100.0% 1/1
Abnormality of the nose 100.0% 1/1
Anteverted nares 100.0% 1/1
Abnormality of the mouth 100.0% 1/1
High palate 100.0% 1/1
Single median maxillary incisor 100.0% 1/1
Smooth philtrum 100.0% 1/1
Thin upper lip vermilion 100.0% 1/1
Heart    
Abnormality of the heart 100.0% 1/1
Patent foramen ovale 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 1/1
Generalized joint laxity 100.0% 1/1
Long fingers 100.0% 1/1
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 100.0% 1/1
Central diabetes insipidus 100.0% 1/1