multiple congenital anomalies-hypotonia-seizures syndrome 2
Findings
No curated finding names multiple congenital anomalies-hypotonia-seizures syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
Definition from the Mondo Disease Ontology (MONDO:0010466), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance · X-linked recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
180 features
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.
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 1 of 1 reported patient
- Abnormal circulating iron concentrationHPOHP:0040130
- 1 of 1 reported patient
- Abnormal foot morphologyHPOHP:0001760
- 1 of 1 reported patient
- Abnormal hepatic iron concentrationHPOHP:0040134
- 1 of 1 reported patient
- Abnormal joint morphologyHPOHP:0001367
- 3 of 3 reported patients
- Abnormal macular morphologyHPO
Show the remaining 168
- Abnormality of the philtrumHPOHP:0000288
- 1 of 1 reported patient
- Abnormality of the supraorbital ridgesHPOHP:0100538
- 1 of 1 reported patient
- Absent septum pellucidumHPOHP:0001331
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Acute aspiration pneumoniaHPOHP:0011952
- 1 of 1 reported patient
- Agenesis of permanent teethHPOHP:0006349
- 1 of 1 reported patient
Genes
1 gene
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.
- PIGAHGNC:8957
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Illumina · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
11 names
Resolves to: multiple congenital anomalies-hypotonia-seizures syndrome 2
- Also called
- DEE20developmental and epileptic encephalopathy 20epileptic encephalopathy, early infantile, 20glycosylphosphatidylinositol biosynthesis defect 4GPIBD4MCAHS type 2MCAHS2multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessivemultiple congenital anomalies-hypotonia-seizures syndrome type 2multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGAPIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability