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MCID: CNR041
MIFTS: 7
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Cone-Rod Dystrophy and Hearing Loss 2
Categories:
Ear diseases, Eye diseases, Genetic diseases
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MalaCards integrated aliases for Cone-Rod Dystrophy and Hearing Loss 2:
Name: Cone-Rod Dystrophy and Hearing Loss 2
58
6
Classifications: |
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OMIM
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58
Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018).
For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236). (618358)
MalaCards based summary : Cone-Rod Dystrophy and Hearing Loss 2, is also known as crdhl2. An important gene associated with Cone-Rod Dystrophy and Hearing Loss 2 is CEP250 (Centrosomal Protein 250). |
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ClinVar genetic disease variations for Cone-Rod Dystrophy and Hearing Loss 2:6
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Search
GEO
for disease gene expression data for Cone-Rod Dystrophy and Hearing Loss 2.
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