|
unusual facies, and developmental delay plantar lipomatosis
|
C566559 |
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
C566544 |
|
|
generalized papular and sclerodermoid
|
15665 |
|
|
generalized papular and sclerodermoid lichen myxedematosus
|
15665 |
|
|
split hand and split foot with mandibular hypoplasia
|
C535665 |
|
|
indeterminate sex and/or pseudohermaphroditism
|
24665 |
|
|
myocardial infarction, anterior wall
|
6652 |
|
|
myocardial infarction, anterolateral
|
6652 |
|
|
myocardial infarctions, anterolateral
|
6652 |
|
|
myocardial infarction, anteroseptal
|
6652 |
|
|
myocardial infarctions, anteroseptal
|
6652 |
|
|
syndrome of apparent mineralocorticoid Excess
|
6657 |
|
|
early-onset non-syndromic cataract caused by mutation in BFSP1
|
12665 |
|
|
deficiency of biotinidase
|
9665 |
|
