multiple congenital anomalies-hypotonia-seizures syndrome 1

Summary
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 has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
Super Class
autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
Disease Ontology
DOID:0080138
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O95427 GPI ethanolamine phosphate transferase 1
The Human Phenotype Ontology
Displaying entries 91 - 100 of 117 in total
HPO ID HPO Term
HP:0000194 Open mouth
HP:0000233 Thin vermilion border
HP:0000256 Macrocephaly
HP:0000341 Narrow forehead
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
HP:0000378 Cupped ear
HP:0000776 Congenital diaphragmatic hernia
Displaying 1 entry
Gene ID Gene Symbol Description
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N

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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