Disease #01354 (MYHRS (Myhre syndrome (MYHRS)), OMIM:139210)

Official abbreviation MYHRS
Name Myhre syndrome (MYHRS)
OMIM ID 139210
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 13
Phenotype entries for this disease 10
Associated with 1 gene SMAD4
Associated tissues -
Disease features -
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Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00050000 - PubMed: Caputo 2012, Journal: Caputo 2012 - M - (Italy) - - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00050001 - PubMed: Le Goff 2011 - - - - - - 0 - - MYHRS - SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00050002 - PubMed: Caputo 2012, Journal: Caputo 2012 - F - (Italy) - - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00050003 - PubMed: Le Goff 2011 - - - - - - 0 - - MYHRS - SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00050004 - PubMed: Le Goff 2011 - - - - - - 0 - - MYHRS - SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00092265 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - MYHRS severe IDD, short stature, microcephaly, square body shape, facial dysmorphisms, cyclic vomiting, congenital kidney abnormalities, hyperammonemia, hypoglycemia, ketosis (now resolved) SMAD4 - 0 1 Johan den Dunnen
00218708 NA_01 PubMed: Caputo 2012, Journal: Caputo 2012 - M - (Italy) (European) - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 Karl Heinimann
00218709 NA_02 PubMed: Caputo 2012, Journal: Caputo 2012 - F - (Italy) (European) - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 Karl Heinimann
00218710 OBG_01 PubMed: Caputo 2012, Journal: Caputo 2012 - M - (Italy) (European) - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 Karl Heinimann
00218711 TO_02 PubMed: Caputo 2012, Journal: Caputo 2012 - F - (Italy) (European) - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 Karl Heinimann
00218712 CA_01 PubMed: Caputo 2012, Journal: Caputo 2012 - M - (Italy) (European) - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 Karl Heinimann
00218713 RE_01 PubMed: Caputo 2012, Journal: Caputo 2012 - M - (Italy) (European) - 0 - - MYHRS MYHRS SMAD4 SMAD4 1 1 Karl Heinimann
00264269 Trio 3 {DOI:Need 2012:10.1136/jmedgenet-2012-100819£ - M - (United States) european-american - 0 - - MYHRS - SMAD4 SMAD4 1 1 Benjamin Tschupp
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