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#192430 - VELOCARDIOFACIAL SYNDROME; VCFS
Cytogenetic locations: 14585638
Gene summaries Genetic tests Medical literature
#194050 - WILLIAMS-BEUREN SYNDROME; WBS
Cytogenetic locations: 19637430
#619959 - ACCES SYNDROME; ACCES
Cytogenetic locations: 31332306
#164210 - CRANIOFACIAL MICROSOMIA 1; CFM1
Cytogenetic locations: 11q12.3
#609192 - LOEYS-DIETZ SYNDROME 1; LDS1
Cytogenetic locations: 19542084
#187300 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Cytogenetic locations: ?candidate
#135750 - LAURIN-SANDROW SYNDROME; LSS
LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED
Cytogenetic locations: 602002
#274000 - THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
Cytogenetic locations: 13947152
#188400 - DIGEORGE SYNDROME; DGS
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
#607014 - HURLER SYNDROME
Cytogenetic locations: 12948739
#276820 - ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
Cytogenetic locations: 16826533
#230500 - GM1-GANGLIOSIDOSIS, TYPE I; GM1G1
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
Cytogenetic locations: ?founding
%223200 - DISORGANIZATION, MOUSE, HOMOLOG OF
*600483 - FIBROBLAST GROWTH FACTOR 8; FGF8
Cytogenetic locations: 610769
*603851 - PAIRED-LIKE HOMEOBOX 2B; PHOX2B
Cytogenetic locations: 19039501
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