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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-11-2015
Symbol MOPDL
Location 4p15.3
Name microcephalic osteodysplastic primordial dwarfism lethal
Corresponding gene TAPT1
Main clinical features
  • lethal syndrome with generalized severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies, including ascites, pleural effusion, and intracranial ventriculomegaly
  • multiple fractures, hydramnios with ascites, and dilated third and fourth cerebral ventricles, facial dysmorphy with a flat face, micrognathia, and a hypoplastic nose
  • skeletal investigation showed the presence of multiple fractures of the ribs and long bones and generalized radioluceny of the entire skeleton
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
  • TAPT1 mutant cells had a more disperse, not-polarized, and distended Golgi morphology (PMID: 26365339))