Hyperphosphatasia With Mental Retardation Syndrome 4; Hpmrs4
Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).
Genes related to Hyperphosphatasia With Mental Retardation Syndrome 4; Hpmrs4
Clinical FeaturesTop most frequent phenotypes and symptoms related to Hyperphosphatasia With Mental Retardation Syndrome 4; Hpmrs4
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Growth delay
- Abnormal facial shape
- Cleft palate
- Wide nasal bridge
And another 20 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Hyperphosphatasia With Mental Retardation Syndrome 4; Hpmrs4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10, gpibd10.
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Hyperphosphatasia With Mental Retardation Syndrome 4; Hpmrs4 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Hyperphosphatasia with mental retardation syndrome type 4.
By Centogene AG - the Rare Disease Company (Germany).
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Genetic Syndrome Finder
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