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

Official abbreviation -
Name Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
OMIM ID -
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 5
Associated with 1 gene COL4A5
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited N/A


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00245757 3459/18ats PubMed: Daga 2020, Journal: Daga 2020, PubMed: Daga 2024, Journal: Daga 2024 2-generation family, affected mother/daughter/son F no Italy - - - - - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Persistent microhaematuria, proteinuria, astigmatism and myopia. COL4A3, COL4A4, COL4A5 COL4A3 1 3 Alessandra Renieri
00245760 1212/18ats PubMed: Daga 2020, Journal: Daga 2020, PubMed: Daga 2024, Journal: Daga 2024 - F no Italy - - - - - 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
00446899 1292/21 - - M no Italy White - - - - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis No microscopic hematuria, no proteinuria, no kidney failure, no reductio of kidney functionality COL4A3, COL4A4, COL4A5 COL4A5 1 12 Sergio Daga
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