slc9a6 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (108)

Interactants (27)

XB-GENEPAGE-6048313

Gene Symbol: slc9a6 Gene Name: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (60 sources): Abnormal foot morphology, Abnormal thorax morphology, Abnormality of the nose, Absent speech, Adducted thumb, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Arthrogryposis multiplex congenita, Autism, Bowel incontinence, Cachexia, Cerebellar atrophy, Cerebral cortical atrophy, Conspicuously happy disposition, Decreased body weight, Decreased muscle mass, Deeply set eye, Developmental regression, Drooling, Dysphagia, Dystonia, Feeding difficulties in infancy, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Happy demeanor, Hypotonia, Inappropriate laughter, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Long face, Long nose, Loss of ability to walk in first decade, Macrotia, Mandibular prognathia, Microcephaly, Motor stereotypy, Mutism, Narrow chest, Narrow face, Neuronal loss in central nervous system, Nystagmus, Open mouth, Ophthalmoplegia, Pectus excavatum, Photosensitive tonic-clonic seizure, Severe global developmental delay, Skeletal muscle atrophy, Sleep disturbance, Slender finger, Strabismus, Thick eyebrow, Truncal ataxia, Urinary incontinence, Ventriculomegaly, obsolete Joint hyperflexibility [+]
Mouse (21 sources): Purkinje cell degeneration, abnormal Purkinje cell morphology, abnormal amygdala morphology, abnormal brain cholesterol level, abnormal cerebellar molecular layer, abnormal cerebral cortex morphology, abnormal cerebral hemisphere morphology, abnormal ganglioside level, abnormal hippocampus CA3 region morphology, abnormal hippocampus CA4 region morphology, abnormal spatial reference memory, behavior/neurological phenotype, decreased Purkinje cell number, decreased brain size, decreased striatum size, increased susceptibility to pharmacologically induced seizures, increased vertical activity, microgliosis, postnatal lethality, incomplete penetrance, small cerebellum, thin cerebral cortex [+]
View all ortholog results at Monarch