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Metadata
ID DOID:0111843
Name Paganini-Miozzo syndrome
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 HS6ST2 on chromosome Xq26.2.
https://www.ncbi.nlm.nih.gov/pubmed/30471091
Xrefs

OMIM:301025

Synonyms

MRXSPM [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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