Disease #00907 (MSS (Marinesco-Sjogren syndrome (MSS)), OMIM:248800)

Official abbreviation MSS
Name Marinesco-Sjogren syndrome (MSS)
OMIM ID 248800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SIL1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00445351 Fam6PatII1 PubMed: Jones 2003, PubMed: Annesi 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; segregation of two diseases M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy SAR1B, SIL1 SAR1B, SIL1 2 2 Johan den Dunnen
00445352 Fam6PatII2 PubMed: Jones 2003, PubMed: Annesi 2007 brother M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy SAR1B, SIL1 SAR1B, SIL1 2 1 Johan den Dunnen
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