microcephalic osteodysplastic primordial dwarfism type I

Summary
Synonym
  • Taybi-Linder syndrome
  • brachymelic primordial dwarfism
  • cephaloskeletal dysplasia
  • low-birth-weight dwarfism with skeletal dysplasia
  • osteodysplastic primordial dwarfism type I
Definition
An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
Super Class
autosomal recessive disease osteochondrodysplasia
External Links
Disease Ontology
DOID:0060608
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 35 in total
Gene ID Gene Symbol Description Source
35 ACADS acyl-CoA dehydrogenase short chain
142 PARP1 poly(ADP-ribose) polymerase 1
275 AMT aminomethyltransferase
410 ARSA arylsulfatase A
412 STS steroid sulfatase
414 ARSD arylsulfatase D
570 BAAT bile acid-CoA:amino acid N-acyltransferase
847 CAT catalase
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1605 DAG1 dystroglycan 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024