nus1 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (176)

Interactants (22)

XB-GENEPAGE-981163

Gene Symbol: nus1 Gene Name: NUS1, dehydrodolichyl diphosphate synthase subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (55 sources): Abnormal corpus callosum morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of vision, Ataxia, Attention deficit hyperactivity disorder, Autism, Autistic behavior, Behavioral abnormality, Brain atrophy, Cerebral atrophy, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dysarthria, Dyskinesia, EEG abnormality, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizure, Global developmental delay, High forehead, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impulsivity, Intellectual disability, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Motor delay, Myoclonus, Nystagmus, Optic atrophy, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Spasticity, Status epilepticus, Tremor, Unsteady gait [+]
Mouse (26 sources): abnormal brain vasculature morphology, abnormal circulating cholesterol level, abnormal embryo morphology, abnormal jugular lymph sac morphology, abnormal lipid homeostasis, abnormal lung endothelial cell physiology, abnormal placenta vasculature, abnormal vascular development, abnormal vascular endothelial cell physiology, abnormal visceral yolk sac physiology, abnormal vitelline vasculature morphology, decreased embryo size, decreased endothelial cell proliferation, decreased liver cholesterol level, decreased lung endothelial cell proliferation, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, excessive folding of visceral yolk sac, increased liver free fatty acids level, increased liver triglyceride level, increased lung endothelial cell apoptosis, increased sensitivity to induced cell death, increased vascular endothelial cell apoptosis, subcutaneous edema, thin placenta labyrinth [+]
View all ortholog results at Monarch