vps11 Phenotypes

Phenotypes

XB-GENEPAGE-922525

Gene Symbol: vps11 Gene Name: VPS11, CORVET/HOPS core subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (35 sources): Abnormal autonomic nervous system physiology, Abnormal periventricular white matter morphology, Absent speech, Axial hypotonia, Cerebellar atrophy, Cerebral hypomyelination, Cerebral visual impairment, Constipation, Delayed CNS myelination, Delayed myelination, Developmental stagnation, Diffuse white matter abnormalities, Febrile seizure (within the age range of 3 months to 6 years), Flexion contracture, Focal impaired awareness seizure, Global developmental delay, Growth delay, Hearing impairment, Hypoplasia of the corpus callosum, Intellectual disability, Microcephaly, Multiple joint contractures, Neurogenic bladder, Optic atrophy, Oromotor apraxia, Poor speech, Reduced visual acuity, Secondary microcephaly, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Spasticity, Temperature instability, Ventriculomegaly, obsolete Central hypotonia [+]
Mouse (8 sources): abnormal blood uric acid level, abnormal circulating aspartate transaminase level, abnormal circulating lactate dehydrogenase level, abnormal circulating phosphate level, decreased circulating aspartate transaminase level, decreased circulating creatine kinase level, decreased circulating lactate dehydrogenase level, preweaning lethality, complete penetrance
View all ortholog results at Monarch