multiple congenital anomalies-hypotonia-seizures syndrome 3

Summary
Synonym
  • M syndrome
  • light fixation seizure syndrome
Definition
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.
Super Class
autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
Disease Ontology
DOID:0080140
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51604 PIGT phosphatidylinositol glycan anchor biosynthesis class T
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q969N2 GPI transamidase component PIG-T
The Human Phenotype Ontology
Displaying entries 1 - 10 of 99 in total
HPO ID HPO Term
HP:0000079 Abnormality of the urinary system
HP:0000107 Renal cyst
HP:0000110 Renal dysplasia
HP:0000121 Nephrocalcinosis
HP:0000248 Brachycephaly
HP:0000272 Malar flattening
HP:0000341 Narrow forehead
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000348 High forehead
Displaying 1 entry
Gene ID Gene Symbol Description
51604 PIGT phosphatidylinositol glycan anchor biosynthesis class T

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024