Additional Disease Briefs

congenital generalized hypercontractile muscle stiffness syndrome

congenital generalized lipodystrophy type 1

Also known as: AGPAT2 congenital generalised lipodystrophy (disease), AGPAT2 congenital generalized lipodystrophy (disease), AGPAT2-related Brunzell syndrome, BSCL1, Berardinelli-Seip congenital lipodystrophy type 1, Berardinelli-Seip congenital lipodystrophy, type 1, Brunzell syndrome AGPAT2-related, Brunzell syndrome, AGPAT2-related, CGL1, congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2, congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2, congenital generalized lipodystrophy type 1, lipodystrophy, Berardinelli-Seip congenital, type 1, lipodystrophy, congenital generalized, type 1

congenital generalized lipodystrophy type 2

Also known as: BSCL2 congenital generalised lipodystrophy (disease), BSCL2 congenital generalized lipodystrophy (disease), BSCL2-related Brunzell syndrome, Berardinelli Seip congenital lipodystrophy type 2, Berardinelli syndrome, Berardinelli-Seip congenital lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy, type 2, Berardinelli-Seip syndrome, Brunzell syndrome BSCL2-related, Brunzell syndrome, BSCL2-related, CGL2, Seip syndrome, congenital generalised lipodystrophy (disease) caused by mutation in BSCL2, congenital generalized lipodystrophy (disease) caused by mutation in BSCL2, congenital lipoatrophic diabetes, lipoatrophic diabetes, congenital, lipodystrophy, Berardinelli-Seip congenital, type 2, lipodystrophy, congenital generalized, type 2, lipodystrophy, total, and acromegaloid gigantism, total lipodystrophy and acromegaloid gigantism

congenital generalized lipodystrophy type 3

Also known as: BSCL3, Berardinelli-Seip congenital lipodystrophy type 3, Berardinelli-Seip congenital lipodystrophy, type 3, CAV1 congenital generalised lipodystrophy (disease), CAV1 congenital generalized lipodystrophy (disease), CGL3, congenital generalised lipodystrophy (disease) caused by mutation in CAV1, congenital generalized lipodystrophy (disease) caused by mutation in CAV1, lipodystrophy, Berardinelli-Seip congenital, type 3, lipodystrophy, congenital generalized, type 3, type 3 Berardinelli-Seip congenital lipodystrophy

congenital generalized lipodystrophy type 4

Also known as: BSCL4, Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy, Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy, CAVIN1 congenital generalised lipodystrophy (disease), CAVIN1 congenital generalized lipodystrophy (disease), CGL4, GCL4, congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1, congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1, generalised congenital lipodystrophy type 4, generalised congenital lipodystrophy with myopathy, generalized congenital lipodystrophy type 4, generalized congenital lipodystrophy with myopathy, lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy, lipodystrophy, congenital generalized, type 4

congenital genu flexum

congenital genu recurvatum

Also known as: genu recurvatum, hyperextension deformity of knee, hyperextension of knee deformity

congenital Gerbode defect

Also known as: Gerbode defect, left ventricular-to-right atrial communication

congenital glaucoma

Also known as: Buphthalmus, buphthalmia, buphthalmos, hydrophthalmos, primary congenital glaucoma