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CFEOM3C
MCID: FBR081
MIFTS: 16
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Fibrosis of Extraocular Muscles, Congenital, 3c (CFEOM3C)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, 3c:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation HPO:31Classifications: |
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MalaCards based summary :
Fibrosis of Extraocular Muscles, Congenital, 3c, also known as feom4 locus, is related to fibrosis of extraocular muscles, congenital, 1. Affiliated tissues include eye, and related phenotypes are intellectual disability and kyphosis
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Diseases in the Fibrosis of Extraocular Muscles, Congenital, 3c family:
Diseases related to Fibrosis of Extraocular Muscles, Congenital, 3c via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 3c:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609384 |
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Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 3c:
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MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 3c:40
Eye
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Articles related to Fibrosis of Extraocular Muscles, Congenital, 3c:
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Search
GEO
for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 3c.
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