|
Symbol Name ID |
Cntnap2
contactin associated protein-like 2 MGI:1914047 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Secondary microcephaly |
Aganglionic megacolon |
Spasticity |
Lower limb spasticity |
Abnormal neuron morphology |
Ventriculomegaly |
Cortical dysplasia |
Focal cortical dysplasia |
Small cerebral cortex |
Aplasia/Hypoplasia of the corpus callosum |
Hypoplasia of the corpus callosum |
Periventricular leukomalacia |
Hyperintensity of cerebral white matter on MRI |
Hypoplastic hippocampus |
Cerebellar vermis atrophy |
Abnormality of neuronal migration |
Ataxia |
Gait ataxia |
Incoordination |
Cerebral palsy |
EEG abnormality |
EEG with generalized slow activity |
Interictal epileptiform activity |
EEG with focal spikes |
EEG with generalized epileptiform discharges |
EEG with generalized polyspikes |
Echolalia |
Abnormal nonverbal communicative behavior |
Reduced eye contact |
Absent speech |
Aphasia |
Deficit in nonword repetition |
Delayed speech and language development |
Expressive language delay |
Receptive language delay |
Mutism |
Poor speech |
Language impairment |
Low frustration tolerance |
Delusion |
Schizophrenia |
Hallucinations |
Atypical behavior |
Happy demeanor |
Negativism |
Lack of spontaneous play |
Reduced social reciprocity |
Impaired ability to form peer relationships |
Autistic behavior |
Autism |
Abnormal temper tantrums |
Aggressive behavior |
Hyperactivity |
Attention deficit hyperactivity disorder |
Inflexible adherence to routines |
Motor stereotypy |
Stereotypical hand wringing |
Restrictive behavior |
Self-injurious behavior |
Self-mutilation |
Skin-picking |
Deficit in phonologic short-term memory |
Mental deterioration |
Progressive language deterioration |
Social and occupational deterioration |
Intellectual disability |
Intellectual disability, moderate |
Intellectual disability, progressive |
Intellectual disability, severe |
Sleep abnormality |
Sleep apnea |
Reduced tendon reflexes |
Areflexia |
Hyporeflexia |
Global developmental delay |
Motor delay |
Delayed gross motor development |
Delayed ability to walk |
Specific learning disability |
Seizure |
Bilateral tonic-clonic seizure with focal onset |
Focal impaired awareness seizure |
Focal-onset seizure |
Focal aware seizure |
Generalized-onset seizure |
Status epilepticus |
| Disease(s) Associated with CNTNAP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autistic disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| cortical dysplasia-focal epilepsy syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pitt-Hopkins syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| schizophrenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| specific language impairment |
| Mouse Phenotypes | nervous system phenotype |
seizures |
environmentally induced seizures |
abnormal neuronal migration |
abnormal brain interneuron morphology |
abnormal corpus callosum morphology |
astrocytosis |
abnormal brain wave pattern |
abnormal neuron physiology |
|
| Availability | Mouse Genotype | |||||||||
| Cntnap2tm1Pele/Cntnap2tm1Pele | * | |||||||||
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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