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XB-GENEPAGE-976370
wdr48 WD repeat domain 48
Monarch Ortholog Phenotypes
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Human (9 sources): Impaired vibration sensation in the lower limbs, Intellectual disability, mild, Limb hypertonia, Lower limb spasticity, Motor axonal neuropathy, Nystagmus, obsolete Difficulty walking, Spastic gait, Spastic paraplegia |
Mouse (9 sources): abnormal seminiferous tubule morphology, decreased birth weight, decreased male germ cell number, decreased oocyte number, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, incomplete penetrance, reduced female fertility, reduced male fertility |
View all ortholog results at Monarch |