Create issue ticket

2 Possible Causes for Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Abstract Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. Herein, we describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial[…][]

  • Malpuech Syndrome

    […] by mutation in the post-GPI attachment to proteins 3 gene (PGAP3, 611801.0001) Cytogenetics A number sign (#) is used with this entry because it represents a contiguous gene[] , generalized; Seizures, myoclonic; Involuntary movements LABORATORY ABNORMALITIES: Increased serum alkaline phosphatase MISCELLANEOUS: Onset in infancy MOLECULAR BASIS: Caused[]

Further symptoms