Leber congenital amaurosis 15

Summary
Synonym
  • LCA15
Definition
A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.
Super Class
Leber congenital amaurosis autosomal recessive disease
Disease Ontology
DOID:0110189
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22157 Tulp1 TUB like protein 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0000563 Keratoconus
HP:0000512 Abnormal electroretinogram
HP:0001141 Severely reduced visual acuity
HP:0000365 Hearing impairment
HP:0000639 Nystagmus
HP:0000518 Cataract
HP:0001263 Global developmental delay
HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
HP:0001250 Seizure
HP:0002269 Abnormality of neuronal migration
Displaying 1 entry
Gene ID Gene Symbol Description
5130 PCYT1A phosphate cytidylyltransferase 1A, choline

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024