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Symbol
Name
ID

Tbce
tubulin-specific chaperone E
MGI:1917680

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Microcephaly	Hypocalcemic seizures	Hypocalcemic tetany	Decreased response to growth hormone stimulation test	Cerebral calcification	Delayed myelination	Ventriculomegaly	Hypoplasia of the corpus callosum	Intellectual disability	Seizure
Disease(s) Associated with TBCE	Microcephaly	Hypocalcemic seizures	Hypocalcemic tetany	Decreased response to growth hormone stimulation test	Cerebral calcification	Delayed myelination	Ventriculomegaly	Hypoplasia of the corpus callosum	Intellectual disability	Seizure
hypoparathyroidism
hypoparathyroidism-retardation-dysmorphism syndrome
Kenny-Caffey syndrome type 1

Mouse Phenotypes		motor neuron degeneration	abnormal facial nerve morphology	abnormal phrenic nerve morphology	axon degeneration
Availability	Mouse Genotype
	Tbce^pmn/Tbce^pmn

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