slc52a3 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (37)

Interactants (3)

XB-GENEPAGE-6032790

Gene Symbol: slc52a3 Gene Name: solute carrier family 52 (riboflavin transporter), member 3

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (60 sources): Abnormal autonomic nervous system physiology, Abnormal cerebellum morphology, Abnormal cranial nerve morphology, Abnormality of eye movement, Abnormality of macular pigmentation, Aggressive behavior, Ankle clonus, Ataxia, Bulbar palsy, Cachexia, Cerebral cortical atrophy, Clumsiness, Color vision defect, Cranial nerve motor loss, Cranial nerve paralysis, Diabetes insipidus, Diaphragmatic weakness, Dysarthria, Dysphagia, Dyspnea, External ophthalmoplegia, Facial palsy, Gynecomastia, Hallucinations, Hand muscle atrophy, Hyperreflexia, Hypertension, Hypogonadism, Hyporeflexia, Hypotonia, Intellectual disability, Iris hypopigmentation, Knee clonus, Kyphosis, Limb muscle weakness, Muscle weakness, Myoclonus, Myopathic facies, Neck muscle weakness, Nocturnal hypoventilation, Optic disc pallor, Peripheral neuropathy, Progressive hearing impairment, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Respiratory distress, Respiratory insufficiency, Scoliosis, Seizure, Sensorineural hearing impairment, Skeletal muscle atrophy, Sleep apnea, Stridor, Tongue atrophy, Tongue fasciculations, Tremor, Visual impairment, Vocal cord paralysis, Weak voice [+]
Mouse (17 sources): abnormal lipid homeostasis, abnormal ocular surface morphology, abnormal placental transport, abnormal vibrissa morphology, abnormal vitamin homeostasis, abnormal vitamin level, decreased birth weight, decreased fatty acid beta-oxidation, decreased fetal weight, decreased food intake, decreased placenta weight, homeostasis/metabolism phenotype, hunched posture, increased circulating carnitine level, neonatal lethality, incomplete penetrance, postnatal lethality, incomplete penetrance, premature death [+]
View all ortholog results at Monarch