cc2d1a Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (89)

Interactants (35)

XB-GENEPAGE-5799123

Gene Symbol: cc2d1a Gene Name: coiled-coil and C2 domain containing 1A

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (41 sources): Abnormal facial shape, Absent septum pellucidum, Autistic behavior, Cerebral atrophy, Cerebral visual impairment, Chorea, Cortical dysplasia, Delayed speech and language development, Depression, Dyskinesia, Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Epileptic spasm, Focal-onset seizure, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Hyperactivity, Hypomimic face, Hypoplasia of the corpus callosum, Hypotonia, Hypsarrhythmia, Impulsivity, Incomprehensible speech, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, progressive, Intellectual disability, severe, Large basal ganglia, Microcephaly, Motor delay, Motor stereotypy, Multifocal epileptiform discharges, Nasogastric tube feeding, Polymicrogyria, Poor speech, Seizure, Short attention span, Sleep abnormality, Spasticity [+]
Mouse (18 sources): abnormal brain vasculature morphology, abnormal cell morphology, abnormal dendrite morphology, abnormal excitatory postsynaptic currents, abnormal inhibitory postsynaptic currents, abnormal miniature inhibitory postsynaptic currents, abnormal neuron physiology, abnormal synaptic vesicle recycling, decreased CNS synapse formation, decreased interferon-beta secretion, decreased interleukin-6 secretion, digestive/alimentary phenotype, hunched posture, increased cellular sensitivity to hydrogen peroxide, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, perinatal lethality, complete penetrance [+]
View all ortholog results at Monarch