porencephaly-microcephaly-bilateral congenital cataract syndrome
MONDO:0013394Mondo
Findings
No curated finding names porencephaly-microcephaly-bilateral congenital cataract syndrome 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
- Death in infancy · Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
15 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.
- CataractHPOHP:0000518
- 6 of 6 reported patients · Congenital onset
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
- Secondary microcephalyHPOHP:0005484
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- SpasticityHPOHP:0001257
- 3 of 3 reported patients
- Ectopic kidneyHPOHP:0000086
- 2 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients
- Cystic renal dysplasiaHPOHP:0000800
- 1 of 3 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 6 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 6 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 6 reported patients
Show the remaining 3
- Global developmental delayHPOHP:0001263
- HyperreflexiaHPOHP:0001347
- VentriculomegalyHPOHP:0002119
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.
- JAM3HGNC:15532
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021