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GENATLAS PHENOTYPE
last update : 02-11-2011
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
    Remark(s) associated with defects in the ATR-dependent defective DNA damage signalling