septooptic dysplasia
Findings
No curated finding names septooptic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Definition from the Mondo Disease Ontology (MONDO:0008428), read 2026-09-29. CC BY 4.0.
Features
32 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.
- Optic nerve hypoplasiaHPOHP:0000609
- Very frequent (80% to 99% of cases)
- Septo-optic dysplasiaHPOHP:0100842
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Frequent (30% to 79% of cases)
- Absent septum pellucidumHPOHP:0001331
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Anterior pituitary hypoplasiaHPOHP:0010627
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Show the remaining 20
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- AnosmiaHPOHP:0000458
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Occasional (5% to 29% of cases)
Genes
7 genes
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.
- HESX1HGNC:4877
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- ARNT2HGNC:16876
- Supportive · Orphanet · Autosomal dominant · 2021
- FGFR1HGNC:3688
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: septooptic dysplasia
- Also called
- De Morsier syndromesepto-optic dysplasiasepto-optic dysplasia sequenceSOD