hgsnat Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (77)

Interactants (0)

XB-GENEPAGE-984403

Gene Symbol: hgsnat Gene Name: heparan-alpha-glucosaminide N-acetyltransferase

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (61 sources): Abnormal electroretinogram, Abnormal retinal vascular morphology, Abnormal testis morphology, Abnormality of fundus pigmentation, Abnormality of retinal pigmentation, Anteverted nares, Asymmetric septal hypertrophy, Atypical scarring of skin, Blindness, Cataract, Cellular metachromasia, Coarse facial features, Coarse hair, Conductive hearing impairment, Constriction of peripheral visual field, Dense calvaria, Diarrhea, Dolichocephaly, Dysostosis multiplex, Dysphagia, Everted lower lip vermilion, Glaucoma, Growth abnormality, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hernia, Hirsutism, Hyperactivity, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Joint stiffness, Keratoconus, Kyphoscoliosis, Loss of speech, Motor delay, Motor deterioration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovoid thoracolumbar vertebrae, Pallor, Photophobia, Progressive night blindness, Recurrent upper respiratory tract infections, Retinal atrophy, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Sleep disturbance, Splenomegaly, Synophrys, Thickened ribs, Type II diabetes mellitus, Visual impairment, Wide nasal bridge [+]
Mouse (24 sources): abnormal CNS glial cell morphology, abnormal Kupffer cell morphology, abnormal Purkinje cell morphology, abnormal bronchus epithelium morphology, abnormal cerebral cortex morphology, abnormal glycosaminoglycan level, abnormal hepatocyte morphology, abnormal lysosome morphology, abnormal mitochondrial crista morphology, abnormal proximal convoluted tubule morphology, abnormal ventricle myocardium morphology, decreased locomotor activity, decreased vertical activity, enlarged lymph nodes, enlarged urinary bladder, increased anxiety-related response, increased bone mineral content, increased circulating alanine transaminase level, increased circulating alkaline phosphatase level, increased lean body mass, increased liver weight, increased spleen weight, microgliosis, premature death [+]
View all ortholog results at Monarch