Disease #01076 (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis)

Official abbreviation -
Name Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
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Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 3
Associated with 1 gene COL4A5
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Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00245757 - - - F no Italy - - 0 - - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Persistent microhaematuria, proteinuria, astigmatism and myopia. COL4A3, COL4A4, COL4A5 COL4A3 1 1 Alessandra Renieri
00245760 - - - F no Italy - - 0 - - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Persistent microhaematuria, absent proteinuria. Normal audiological and ophthalmoscopic evaluation COL4A3, COL4A4, COL4A5 COL4A5 1 1 Alessandra Renieri
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