multiple congenital anomalies-hypotonia-seizures syndrome 1

Findings

No curated finding names multiple congenital anomalies-hypotonia-seizures syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• developmental anomaly of metabolic origin
• inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• multiple congenital anomalies-hypotonia-seizures syndrome

Resolves to: multiple congenital anomalies-hypotonia-seizures syndrome 1

Also called

congenital disorder of glycosylation due to PIGN deficiencyinherited GPI anchor-deficiencymultiple congenital anomalies-hypotonia-seizures syndrome type 1multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGNPIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPIGN-CDG