polyhydramnios, megalencephaly, and symptomatic epilepsy
Findings
No curated finding names polyhydramnios, megalencephaly, and symptomatic epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3.
Definition from the Mondo Disease Ontology (MONDO:0012611), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
42 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.
- Hyperplasia of midfaceHPOHP:0012371
- 16 of 16 reported patients
- HypertelorismHPOHP:0000316
- 16 of 16 reported patients
- HypotoniaHPOHP:0001252
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Large foreheadHPOHP:0002003
- 16 of 16 reported patients
- Long faceHPOHP:0000276
- 16 of 16 reported patients
- PolyhydramniosHPOHP:0001561
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 30
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Infantile spasmsHPOHP:0012469
- Very frequent (80% to 99% of cases)
- MegalencephalyHPOHP:0001355
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Cerebral white matter hypoplasiaHPOHP:0012430
- Frequent (30% to 79% of cases)
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.
- STRADAHGNC:30172
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: polyhydramnios, megalencephaly, and symptomatic epilepsy
- Also called
- PMSE syndrome