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Name
ID

Tbc1d24
TBC1 domain family, member 24
MGI:2443456

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Dandy-Walker malformation

Microcephaly

Secondary microcephaly

Delayed CNS myelination

Delayed myelination

Ventriculomegaly

Polymicrogyria

Cerebral atrophy

Diffuse cerebral atrophy

Arrhinencephaly

Small cerebellar cortex

Diffuse cerebellar atrophy

Spina bifida occulta

Ataxia

Abnormality of extrapyramidal motor function

Myoclonus

Eyelid myoclonus

Tremor

Hand tremor

Abnormal pyramidal sign

Hemiparesis

Hemiplegia

Prolonged somatosensory evoked potentials

EEG abnormality

EEG with parietal sharp waves

EEG with parietal focal spike waves

EEG with irregular generalized spike and wave complexes

Dysarthria

Autistic behavior

Attention deficit hyperactivity disorder

Intellectual disability

Excessive daytime somnolence

Hyporeflexia

Dystonia

Writer's cramp

Paroxysmal dystonia

Epileptic encephalopathy

Developmental regression

Global developmental delay

Peripheral neuropathy

Polyneuropathy

Seizure

Bilateral tonic-clonic seizure

Focal impaired awareness seizure

Generalized non-motor (absence) seizure

Focal motor seizure

Focal hemifacial clonic seizure

Generalized myoclonic seizure

Generalized myoclonic-atonic seizure

Atonic seizure

Clonic seizure

Myoclonic seizure

Status epilepticus

Disease(s) Associated with TBC1D24

developmental and epileptic encephalopathy 16

DOORS syndrome

myoclonic-atonic epilepsy

Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Mouse Phenotypes		nervous system phenotype	seizures	tonic-clonic seizures	abnormal axon extension	abnormal dendrite morphology	abnormal synaptic vesicle recycling	abnormal synaptic transmission	abnormal miniature excitatory postsynaptic currents
Availability	Mouse Genotype	nervous system phenotype	seizures	tonic-clonic seizures	abnormal axon extension	abnormal dendrite morphology	abnormal synaptic vesicle recycling	abnormal synaptic transmission	abnormal miniature excitatory postsynaptic currents
	Tbc1d24^em2Tbf/Tbc1d24^em2Tbf	*
	Tbc1d24^em2Tbf/Tbc1d24^em5Tbf
	Tbc1d24^{tm1b(EUCOMM)Hmgu}/Tbc1d24⁺	*

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23