|
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
|
C536790 |
|
|
sensory neuropathy with deafness and dementia
|
C536749 |
|
|
margarita island type ectodermal dysplasia
|
C536726 |
|
|
chromosome 21, uniparental disomy of
|
C536794 |
|
|
mental retardation unusual facies hypothyroidism
|
C536717 |
|
|
fibromatosis, gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly
|
C536725 |
|
|
Radial-ulnar hypoplasia with bone marrow failure and-or leukemia
|
C536751 |
|
|
fatal infantile, with olivopontocerebellar hypoplasia encephalopathy
|
C536716 |
|
|
mental retardation, x-linked, with congenital contractures and low fingertip arches
|
C536703 |
|
|
type 9 xeroderma pigmentosum
|
C536765 |
|
|
variant type xeroderma pigmentosum
|
C536766 |
|
|
trisomy xpter xq13 x chromosome
|
C536731 |
|
|
sensorineural deafness with pituitary dwarfism
|
C536710 |
|
