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MCID: LBR032
MIFTS: 12
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Leber Congenital Amaurosis with Early-Onset Deafness
Categories:
Genetic diseases, Ear diseases
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MalaCards integrated aliases for Leber Congenital Amaurosis with Early-Onset Deafness:Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
symptoms occur within the first decade of life onset at birth in some patients Classifications: |
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OMIM
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57
Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017). (617879)
MalaCards based summary : Leber Congenital Amaurosis with Early-Onset Deafness, is also known as lcaeod. An important gene associated with Leber Congenital Amaurosis with Early-Onset Deafness is TUBB4B (Tubulin Beta 4B Class IVb). UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis with early-onset deafness: An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617879 |
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ClinVar genetic disease variations for Leber Congenital Amaurosis with Early-Onset Deafness:6
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Search
GEO
for disease gene expression data for Leber Congenital Amaurosis with Early-Onset Deafness.
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