| Symbol
| MOPD1
|
| Location
| 2q14.3
|
| Name
|
microcephalic osteodysplastic primordial dwarfism, type1 |
| Other name(s)
|
Taybi-Linder syndrome, bird headed dwarfism, |
| Corresponding gene
|
RNU4ATAC
|
| Other symbol(s)
| BHDSL, TALS
|
| Main clinical features
|
brachymelic primordial dwarfism that resembled Seckel bird-headed dwarfism except for abnormal body proportions and short limbs; dysplasia of the osseous skeleton including the skull, microcephaly and extensive malformations of the brain, with early death |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| osteo-articular |
| Type
| MCA/MR
|