snap29 Phenotypes

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Phenotypes

Gene Literature (1)

Nucleotides (217)

Interactants (452)

XB-GENEPAGE-941285

Gene Symbol: snap29 Gene Name: synaptosome associated protein 29kDa

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (44 sources): Abnormal corpus callosum morphology, Abnormality of eye movement, Abnormality of peripheral nerve conduction, Abnormality of the dentition, Abnormality of the orbital region, Abnormality of vision, Areflexia, Ataxia, Congestive heart failure, Cortical dysplasia, Depressed nasal bridge, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Failure to thrive, Global developmental delay, Hypertelorism, Hypogonadism, Hypotonia, Ichthyosis, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Long face, Macrotia, Microcephaly, Nephrotic syndrome, Optic atrophy, Optic disc hypoplasia, Pachygyria, Palmoplantar keratoderma, Peripheral neuropathy, Polymicrogyria, Polyneuropathy, Poor head control, Progressive microcephaly, Prominent nasal bridge, Proteinuria, Seizure, Sensorineural hearing impairment, Short stature, Stroke, Wide nasal bridge, obsolete Diffuse palmoplantar keratoderma [+]
Mouse (19 sources): abnormal autophagy, abnormal corneocyte morphology, abnormal endoplasmic reticulum physiology, abnormal epidermal lamellar body morphology, abnormal epidermis stratum granulosum morphology, abnormal keratinocyte differentiation, abnormal skin appearance, absent gastric milk in neonates, acanthosis, decreased birth body size, decreased hair follicle number, decreased keratohyalin granule number, impaired skin barrier function, increased body length, increased bone mineral content, increased endoplasmic reticulum stress, increased keratinocyte proliferation, increased lean body mass, neonatal lethality, complete penetrance [+]
View all ortholog results at Monarch