Search Ontology:
Human Disease

Paganini-Miozzo syndrome

Term ID
DOID:0111843
Synonyms
  • MRXSPM
Definition
A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. https://www.ncbi.nlm.nih.gov/pubmed/30471091
References
Ontology
Human Disease   ( DOID:0111843 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models