Disorders

Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Synonym(s): Brachymelic Primordial Dwarfism, Cephaloskeletal Dysplasia, Low-Birth-Weight Dwarfism With Skeletal Dysplasia, MOPD I, MOPD1, TALS, Taybi-Linder Syndrome

OMIM

Gene	Locus	Protein
RNU4ATAC	2q14.2

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of the entire coding region
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Sequence analysis of the entire coding region

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.