growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
11478 |
|
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
|
14787 |
|
preimplantation embryonic lethality 1
|
14783 |
|
carbohydrate deficient glycoprotein syndrome type IIo
|
14789 |
|
TLE6 preimplantation embryonic lethality
|
14783 |
|
hyperphosphatasia with intellectual disability syndrome 6
|
14780 |
|
hyperphosphatasia with intellectual disability syndrome 6; HPMRS6
|
14780 |
|
hyperphosphatasia with intellectual disability syndrome type 6
|
14780 |
|
preimplantation embryonic lethality 1; PREMBL1
|
14783 |
|
preimplantation embryonic lethality caused by mutation in TLE6
|
14783 |
|
preimplantation embryonic lethality type 1
|
14783 |
|
hyperphosphatasia with mental retardation syndrome 6
|
14780 |
|
autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES
|
14782 |
|
autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2
|
14788 |
|
autosomal recessive limb-girdle muscular dystrophy type 2W
|
14788 |
|