Amish, Mennonite, and Hutterite
Genetic Disorder Database

Microcephalic osteodysplastic primordial dwarfism

Disorder
OMIM #: #210710  (Click to access OMIM database)
Disorder: Microcephalic osteodysplastic primordial dwarfism 
Also known as: MOPD I
MOPD OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I BRACHYMELIC PRIMORDIAL DWARFISM TAYBI-LINDER SYNDROME
TALS CEPHALOSKELETAL DYSPLASIA LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA 
Clinical
Phenotype: Intrauterine growth retardation, Skeletal dysplasia, Microcephaly, Brachycephaly, Dwarfism, Mental retardation, Short limbs, Brain malformation, Delayed epiphyseal maturation, Dry skin 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: http://www.wohproject.org/disorders/microcephalicosteodysplasticprimordialdwarfism/ 
Mutations
1   Old Colony Mennonite  
Gene: RNU4ATAC
Base Change: G>A, at nucleotide 51
Amino Acid Change:
Last updated: 2017-08-10 

References
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE. (2011) Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I. Science 332(6026):238-40.
PubMed ID: 21474760 

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