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Article

Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.

Clinical dysmorphology - 1 Oct 2022

do Rosario Michelle C, Kaur Parneet, Girisha Katta Mohan, Bielas Stephanie, Shukla Anju

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Identifiers

PMID: 35445667
DOI: 10.1097/MCD.0000000000000423
PMCID: PMC9474726

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Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.PMID 35445667Read ↗

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.Semantic proximity Read ↗

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Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.Semantic proximity Read ↗

Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.Semantic proximity Read ↗

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.Semantic proximity Read ↗

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.Semantic proximity Read ↗

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PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.Semantic proximity Read ↗

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