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 51 - 60 of 117 in total
HPO ID HPO Term
HP:0002100 Recurrent aspiration pneumonia
HP:0002119 Ventriculomegaly
HP:0002265 Large fleshy ears
HP:0002286 Fair hair
HP:0002305 Athetosis
HP:0002616 Aortic root aneurysm
HP:0002951 Partial absence of cerebellar vermis
HP:0003196 Short nose
HP:0003324 Generalized muscle weakness
HP:0004488 Macrocephaly at birth
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