Disease #00293

Official abbreviation FHASD
Name hypoplasia, foveal, and dysgenesis, anterior segment (FHASD)
OMIM ID 609218
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SLC38A8
Associated tissues -
Disease features -
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00001640 - PubMed: Perez 2014 3 apparently unrelated 2-generation families with 9 affecteds and unaffected carrier parents - no Israel Jewish, India - 0 - - FHASD secondary nystagmus and low vision SLC38A8 SLC38A8 1 9 Yonatan Perez
00155551 - Sharon, submitted - M no Israel Indian Jewish - 0 - - FHASD - SLC38A8 SLC38A8 1 2 Dror Sharon
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