Name
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Synonmys
BRACHYMELIC PRIMORDIAL DWARFISM ,
CEPHALOSKELETAL DYSPLASIA ,
LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA ,
MOPD I; MOPD ,
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I ,
TAYBI-LINDER SYNDROME; TALS
Classification
bone,
developmental,
eye,
genetic,
neurological
Associated Genes
RNU4ATAC
(Withdrawn symbols:
RNU4ATAC1,
U4atac
)
Mouse Orthologs
-
Source
OMIM:210710 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)