pomgnt2 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (161)

Interactants (11)

XB-GENEPAGE-973747

Gene Symbol: pomgnt2 Gene Name: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (59 sources): Abnormal aldolase level, Abnormal cerebellar vermis morphology, Abnormal circulating creatine kinase concentration, Abnormal circulating lactate dehydrogenase concentration, Abnormal cortical gyration, Abnormality of neuronal migration, Abnormality of the optic nerve, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Bifid uvula, Calf muscle hypertrophy, Cataract, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated circulating creatine kinase concentration, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hyporeflexia, Hypotonia, Intellectual disability, Iris coloboma, Lissencephaly, Low-set ears, Macrocephaly, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Motor delay, Muscle weakness, Muscular dystrophy, Optic atrophy, Pachygyria, Polymicrogyria, Posteriorly rotated ears, Protruding ear, Proximal muscle weakness, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizure, Skeletal muscle atrophy, Specific learning disability, Submucous cleft hard palate, Type II lissencephaly, Ventriculomegaly, obsolete Macrogyria [+]
Mouse (7 sources): abnormal basal lamina morphology, abnormal cerebral cortex morphology, decreased birth body size, decreased birth weight, decreased fetal size, neonatal lethality, complete penetrance, radial glial endfoot detachment
View all ortholog results at Monarch