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MRXSPM
MCID: PGN002
MIFTS: 19
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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:56
Inheritance:
x-linked recessive
Miscellaneous:
two italian brothers have been reported (last curated june 2019) HPO:31Classifications: |
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OMIM :
56
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)
MalaCards based summary : Paganini-Miozzo Syndrome, is also known as mental retardation, x-linked, syndromic, paganini-miozzo type. An important gene associated with Paganini-Miozzo Syndrome is HS6ST2 (Heparan Sulfate 6-O-Sulfotransferase 2). Affiliated tissues include eye, and related phenotypes are low-set ears and global developmental delay UniProtKB/Swiss-Prot : 73 Paganini-Miozzo syndrome: A 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:56Clinical features from OMIM:301025 |
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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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Genes related to Paganini-Miozzo Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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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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