Disease #04504 (UFS-1 (urofacial syndrome, type 1 (UFS-1)), OMIM:236730)

Official abbreviation UFS-1
Name urofacial syndrome, type 1 (UFS-1)
OMIM ID 236730
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 20
Phenotype entries for this disease 0
Associated with 1 gene HPSE2
Associated tissues -
Disease features -
Remarks -


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00245672 - PubMed: Aydogdu 2010 Twin brother of IV:2 M - - Turkish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245673 - PubMed: Aydogdu 2010 Twin brother of IV:1 M - - Turkish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245675 - - see variant's remarks M - - French - 0 - - UFS-1 - HPSE2 HPSE2 2 1 LOVD
00245676 - - see variant's remarks M - - French - 0 - - UFS-1 - HPSE2 HPSE2 2 1 LOVD
00245677 - PubMed: Garcia-Minaur 2001 - M - - Spanish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245679 - PubMed: Aydogdu 2010 - ? - - Turkish - 0 - - UFS-1 - HPSE2 HPSE2 1 5 LOVD
00245681 - - Consanguineous family M - United Kingdom (Great Britain) Pakistani - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245682 - - Sister of IV:4. Consanguineous family F - United Kingdom (Great Britain) Pakistani - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245683 - - Brother of IV:4. Consanguineous family M - United Kingdom (Great Britain) Pakistani - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245685 - PubMed: Derbent 2009 - F - - Turkish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245687 - - - M - United States Irish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245688 - - - M - United States Irish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245689 - PubMed: Garcia-Minaur 2001 Sister of II:3. Strikingly different presentation F - - Irish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245690 - PubMed: Garcia-Minaur 2001 Sister of II:2. Strikingly different presentation F - - Irish - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245692 - - - M - - Colombian - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245693 - - - F - - Colombian - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245694 - - - F - - Colombian - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245695 - - Consanguineous family F - - Colombian - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245696 - - Consanguineous family M - - Colombian - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
00245697 - - - F - - Colombian - 0 - - UFS-1 - HPSE2 HPSE2 1 1 LOVD
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