dpm2 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (107)

Interactants (0)

XB-GENEPAGE-1003153

Gene Symbol: dpm2 Gene Name: dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (50 sources): Abnormal facial shape, Abnormal isoelectric focusing of serum transferrin, Abnormal periventricular white matter morphology, Absent smooth pursuit, Absent speech, Bradykinesia, Cerebellar hypoplasia, Cerebral white matter atrophy, Congenital contracture, Contractures of the large joints, Decreased O-mannosyl glycans on alpha-dystroglycan, Deep philtrum, Dental malocclusion, EEG with burst suppression, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Epileptic encephalopathy, External genital hypoplasia, Failure to thrive, Feeding difficulties, Generalized clonic seizure, Generalized hypotonia, Generalized myoclonic seizure, Global developmental delay, Hepatomegaly, High palate, Hypotelorism, Low anterior hairline, Micrognathia, Myopathic facies, Nasogastric tube feeding, Neonatal respiratory distress, Optic atrophy, Osteopenia, Polyhydramnios, Poor head control, Primitive reflex, Progressive microcephaly, Recurrent respiratory infections, Reduced antithrombin III activity, Respiratory distress, Scoliosis, Secondary microcephaly, Seizure, Severe muscular hypotonia, Short nose, Strabismus, Thin upper lip vermilion, Trigonocephaly, Type I transferrin isoform profile [+]
Mouse (3 sources): abnormal eosinophil cell number, decreased eosinophil cell number, preweaning lethality, complete penetrance
View all ortholog results at Monarch