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 -
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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