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 41 - 50 of 99 in total
HPO ID HPO Term
HP:0002283 Global brain atrophy
HP:0002650 Scoliosis
HP:0002705 High, narrow palate
HP:0002714 Downturned corners of mouth
HP:0002720 Decreased circulating IgA level
HP:0002750 Delayed skeletal maturation
HP:0002850 Decreased circulating total IgM
HP:0002870 Obstructive sleep apnea
HP:0003072 Hypercalcemia
HP:0003100 Slender long bone
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