ZFIN Human Disease: Paganini-Miozzo syndrome

OBO ID: DOID:0111843

Term Name:	Paganini-Miozzo syndrome		Search Ontology:
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:	OMIM:301025
Ontology:	Human Disease ( DOID:0111843 )

Relationships

is a type of:	syndromic X-linked intellectual disability X-linked recessive disease syndromic X-linked intellectual disability X-linked recessive disease Show first 5 Terms

OTHER Paganini-Miozzo syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HS6ST2	hs6st2	?Paganini-Miozzo syndrome	301025

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None