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 71 - 80 of 117 in total
HPO ID HPO Term
HP:0008676 Congenital megaureter
HP:0008718 Unilateral renal dysplasia
HP:0008872 Feeding difficulties in infancy
HP:0008994 Proximal muscle weakness in lower limbs
HP:0010282 Thin lower lip vermilion
HP:0010291 Prominent palatine ridges
HP:0010544 Vertical nystagmus
HP:0010804 Tented upper lip vermilion
HP:0010880 Increased nuchal translucency
HP:0011247 Prominent superior crus of antihelix
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