|
renal, with intracerebral calcifications hypophosphatemia
|
C565478 |
|
|
lymphoblastic transformation, intrinsic defect in
|
C565431 |
|
|
inhibition of lymphoblastic transformation
|
C565433 |
|
|
metaphyseal chondrodysplasia, kaitila type
|
C565400 |
|
|
hyperphosphatasia with mental retardation
|
C565495 |
|
|
acute, with lymphomatous features lymphoblastic leukemia
|
C565429 |
|
|
kaitila type metaphyseal chondrodysplasia
|
C565400 |
|
|
distal, with micrognathia limb deficiencies
|
C565437 |
|
|
hypertelorism, and mental retardation iris coloboma with ptosis
|
C565462 |
|
|
autosomal marfanoid mental retardation syndrome
|
C565410 |
|
|
split-hand foot malformation 3
|
C565437 |
|
|
leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis
|
C565440 |
|
|
absence deformity of, with congenital cataract leg
|
C565442 |
|
|
l-gulonolactone oxidase, nonfunctional
|
C565486 |
|
|
keratoderma, palmoplantar, norrbotten recessive type
|
C565454 |
|
