|
punctate calcifications, and deafness spondylomegaepiphyseal dysplasia with upper limb mesomelia
|
C566507 |
|
|
unusual facies, and developmental delay plantar lipomatosis
|
C566559 |
|
|
auditory canal atresia, mandibular hypoplasia, skeletal abnormalities short stature
|
C566544 |
|
|
dystonia, primary cervical
|
C566572 |
|
|
hystrix-like, with deafness ichthyosis
|
C566528 |
|
|
congenital, with deafness, penoscrotal web, and mental retardation emphysema
|
C566519 |
|
|
familial, autosomal dominant visceral neuropathy
|
C566502 |
|
|
intraventricular septal defect, and deafness brachydactyly
|
C566521 |
|
|
peroxisome biogenesis disorder, complementation group e
|
C566569 |
|
|
retinal pigment epithelium lesions, discolored teeth sensorineural hearing loss
|
C566560 |
|
|
primary cervical dystonia
|
C566572 |
|
|
complementation group e peroxisome biogenesis disorder
|
C566569 |
|
|
lethal skeletal dysplasia and progressive central nervous system degeneration
|
C566514 |
|
