rab18 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (315)

Interactants (114)

XB-GENEPAGE-489851

Gene Symbol: rab18 Gene Name: RAB18, member RAS oncogene family

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (68 sources): Abnormal cerebellum morphology, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Abnormal localization of kidney, Ankle clonus, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Axial hypotonia, Blepharophimosis, Brachycephaly, Cataract, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebral visual impairment, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Decreased muscle mass, Decreased testicular size, Delayed puberty, Developmental cataract, Downturned corners of mouth, Failure to thrive, Flexion contracture, Generalized hirsutism, Global developmental delay, High palate, Hydronephrosis, Hypertrichosis, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Hypotonia, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low anterior hairline, Macrotia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Narrow palate, Nystagmus, obsolete Low-set, posteriorly rotated ears, Optic atrophy, Pachygyria, Peripheral neuropathy, Polymicrogyria, Retinal coloboma, Scoliosis, Secondary microcephaly, Seizure, Shallow anterior chamber, Short nose, Short philtrum, Short stature, Small scrotum, Spasticity, Spastic tetraplegia, Ventriculomegaly, Wide intermamillary distance, Wide nasal bridge [+]
Mouse (13 sources): abnormal cell cytoskeleton morphology, abnormal dorsal spinal root morphology, abnormal eye development, abnormal neuromuscular synapse morphology, abnormal pupillary reflex, abnormal sciatic nerve morphology, hyporesponsive to tactile stimuli, increased thermal nociceptive threshold, increased white fat cell lipid droplet size, limb grasping, optic nerve degeneration, perinatal lethality, incomplete penetrance, weakness [+]
View all ortholog results at Monarch