ptrh2 Phenotypes

Phenotypes

XB-GENEPAGE-5849008

Gene Symbol: ptrh2 Gene Name: peptidyl-tRNA hydrolase 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (34 sources): Abnormal foot morphology, Ataxia, Brachycephaly, Cerebellar atrophy, Delayed puberty, Diabetes mellitus, Distal muscle weakness, Dysmetria, Exotropia, Failure to thrive, Flexion contracture, Generalized hypotonia, Global developmental delay, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hip dislocation, Hypertelorism, Hyporeflexia, Hypothyroidism, Hypotonia, Intellectual disability, Microcephaly, Midface retrusion, Pancreatic fibrosis, Progressive microcephaly, Proximal placement of thumb, Seizure, Sensorineural hearing impairment, Shawl scrotum, Short stature, Steatorrhea, Talipes equinovarus, Thin upper lip vermilion [+]
Mouse (17 sources): abnormal cerebral cortex morphology, abnormal epaxial muscle morphology, abnormal hepatocyte morphology, abnormal muscle fiber morphology, abnormal pancreatic acinar cell morphology, abnormal sarcolemma morphology, decreased brain weight, decreased fibroblast apoptosis, delayed kidney development, impaired righting response, increased creatine kinase activity, increased variability of skeletal muscle fiber size, joint contracture, no abnormal phenotype detected, postnatal lethality, complete penetrance, skeletal muscle degeneration, skeletal muscle endomysial fibrosis [+]
View all ortholog results at Monarch