|
Symbol Name ID |
Wdr81
WD repeat domain 81 MGI:2681828 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Posterior fossa cyst |
Microcephaly |
Spasticity |
Spastic paraplegia |
Hypoplasia of the brainstem |
Colpocephaly |
Aqueductal stenosis |
Hydrocephalus |
Communicating hydrocephalus |
Ventriculomegaly |
Abnormal cortical gyration |
Lissencephaly |
Pachygyria |
Simplified gyral pattern |
Cerebral cortical atrophy |
Small cerebral cortex |
Agenesis of corpus callosum |
Hypoplasia of the corpus callosum |
Corpus callosum atrophy |
Absent septum pellucidum |
Aplasia of the inferior half of the cerebellar vermis |
Cerebellar vermis hypoplasia |
Inferior cerebellar vermis hypoplasia |
Atrophy of the dentate nucleus |
Cerebellar hypoplasia |
Cerebellar atrophy |
Global brain atrophy |
Holoprosencephaly |
Corticospinal tract hypoplasia |
Gray matter heterotopia |
Ataxia |
Cerebellar ataxia associated with quadrupedal gait |
Dysdiadochokinesis |
Dysmetria |
Gait ataxia |
Truncal ataxia |
Slurred speech |
Tremor |
Intention tremor |
Hemiplegia/hemiparesis |
Increased intracranial pressure |
Delayed speech and language development |
Dysarthria |
Poor speech |
Intellectual disability |
Intellectual disability, mild |
Intellectual disability, progressive |
Intellectual disability, severe |
Hyperreflexia |
Lower limb hyperreflexia |
Hyporeflexia |
Broad-based gait |
Inability to walk |
Global developmental delay |
Motor delay |
Delayed ability to walk |
Seizure |
| Disease(s) Associated with WDR81 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| cerebellar ataxia, mental retardation and dysequlibrium syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| hydrocephalus |
| Mouse Phenotypes | abnormal neuron mitochondrial morphology |
abnormal Purkinje cell dendrite morphology |
decreased Purkinje cell number |
decreased cerebellar granule cell number |
decreased retina photoreceptor cell number |
|
| Availability | Mouse Genotype | |||||
| Wdr81nur5/Wdr81nur5 | ||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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