|
myopathy, congenital, due to integrin alpha-7 deficiency
|
C567709 |
|
|
46,xy gonadal dysgenesis, complete, cbx2-related
|
C567766 |
|
|
46,xy gonadal dysgenesis, partial, with minifascicular neuropathy
|
C567773 |
|
|
progressive macular dystrophy
|
C567750 |
|
|
with tufting enteropathy, congenital diarrhea 5
|
C567703 |
|
|
fibrosis of extraocular muscles, congenital, 3b
|
C567739 |
|
|
hyperuricemic nephropathy, familial juvenile 2
|
C567760 |
|
|
convulsions, benign familial neonatal, 1, and-or myokymia
|
C567744 |
|
|
convulsions, benign familial neonatal, 1, atypical severe
|
C567746 |
|
|
congenital, 1 fibrosis of extraocular muscles
|
C567739 |
|
|
congenital, 3b fibrosis of extraocular muscles
|
C567739 |
|
|
nonimmune, with gracile bones and dysmorphic features hydrops fetalis
|
C567731 |
|
|
familial, 5 hemophagocytic lymphohistiocytosis
|
C567752 |
|
|
marie unna hereditary hypotrichosis 1
|
C567718 |
|
|
dystransthyretinemic euthyroidal hyperthyroxinemia
|
C567719 |
|
