fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
MONDO:0859204Mondo
Findings
No curated finding names fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death · Fetal onset
HPO, annotations 2026-09-02
Features
7 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.
- Abnormal cortical gyrationHPOHP:0002536
- 4 of 4 reported patients
- Aplasia/Hypoplasia of the pyramidal tractHPOHP:0007363
- 3 of 3 reported patients
- Fetal akinesia sequenceHPOHP:0001989
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- PolyhydramniosHPOHP:0001561
- 3 of 3 reported patients
- PolymicrogyriaHPOHP:0002126
- 4 of 4 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 3 reported patients
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.
- ATP1A2HGNC:800
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of