man2b1 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (179)

Interactants (126)

XB-GENEPAGE-958697

Gene Symbol: man2b1 Gene Name: mannosidase, alpha, class 2B, member 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (80 sources): Abnormal helix morphology, Abnormal pyramidal sign, Abnormal rib cage morphology, Arthritis, Avascular necrosis, Babinski sign, Behavioral abnormality, Bowing of the long bones, Broad forehead, Cataract, Cerebellar atrophy, Cerebral atrophy, Chronic otitis media, Coarse facial features, Corneal opacity, Craniofacial hyperostosis, Decreased circulating antibody level, Delayed myelination, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Dysarthria, Dysostosis multiplex, Epicanthus, Femoral bowing, Flat occiput, Frontal bossing, Gait ataxia, Generalized abnormality of skin, Generalized hypotonia, Gingival overgrowth, Gliosis, Global developmental delay, Growth delay, Hallucinations, Hearing impairment, Hepatomegaly, Hip dysplasia, Hyperreflexia, Hypertelorism, Hypertrichosis, Hypoplastic inferior ilia, Hypotonia, Impaired smooth pursuit, Increased intracranial pressure, Increased vertebral height, Intellectual disability, Kyphosis, Limb ataxia, Low anterior hairline, Macrocephaly, Macroglossia, Macrotia, Malar flattening, Mandibular prognathia, Midface retrusion, Narrow palate, Nystagmus, Open bite, Pectus carinatum, Prominent supraorbital ridges, Recurrent bacterial infections, Recurrent respiratory infections, Retinal degeneration, Scoliosis, Sensorineural hearing impairment, Short neck, Skeletal dysplasia, Spasticity, Spinocerebellar tract disease in lower limbs, Splenomegaly, Spondylolisthesis, Synostosis of joints, Thick eyebrow, Thickened calvaria, Thoracolumbar kyphosis, Type II diabetes mellitus, Vacuolated lymphocytes, Widely spaced teeth [+]
Mouse (26 sources): abnormal Kupffer cell morphology, abnormal axon morphology, abnormal cerebral cortex morphology, abnormal cochlea morphology, abnormal cochlear ganglion morphology, abnormal corneal stroma morphology, abnormal cranial ganglia morphology, abnormal eye muscle morphology, abnormal glial cell morphology, abnormal globus pallidus morphology, abnormal hepatocyte morphology, abnormal hippocampus CA2 region morphology, abnormal hippocampus CA3 region morphology, abnormal lysosome morphology, abnormal olfactory discrimination memory, abnormal pancreatic acinar cell morphology, abnormal passive avoidance behavior, abnormal renal tubule epithelium morphology, abnormal retina photoreceptor morphology, abnormal spatial learning, abnormal spiral ligament fibrocyte morphology, abnormal spleen red pulp morphology, abnormal trigeminal ganglion morphology, abnormal vestibular ganglion morphology, decreased exploration in new environment, enhanced long term potentiation [+]
View all ortholog results at Monarch