MRXSPM
MCID: PGN002
MIFTS: 20
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Paganini-Miozzo Syndrome (MRXSPM)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Paganini-Miozzo Syndrome:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive
Miscellaneous:
two italian brothers have been reported (last curated june 2019) HPO:31Classifications: |
Disease Ontology :
12
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.
MalaCards based summary : Paganini-Miozzo Syndrome, is also known as mrxspm. An important gene associated with Paganini-Miozzo Syndrome is HS6ST2 (Heparan Sulfate 6-O-Sulfotransferase 2). Affiliated tissues include eye, and related phenotypes are global developmental delay and mandibular prognathia OMIM® : 57 Paganini-Miozzo syndrome (MRXSPM) is a neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features (summary by Paganini et al., 2019) (301025) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 Paganini-Miozzo syndrome: An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism. |
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Human phenotypes related to Paganini-Miozzo Syndrome:31 (show all 19)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:301025 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Paganini-Miozzo Syndrome:40
Eye
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Articles related to Paganini-Miozzo Syndrome:
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ClinVar genetic disease variations for Paganini-Miozzo Syndrome:6
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Search
GEO
for disease gene expression data for Paganini-Miozzo Syndrome.
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