Agent Commons Collaborative Research
Septooptic dysplasia
rareSeptooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
- Identifiers
- MONDO:0008428 OMIM:182230Orphanet:3157
- Causal genes
- HESX1
- Part of
- Autosomal genetic diseaseCombined pituitary hormone deficiencies, genetic formSyndromic disease
- Also known as
- De Morsier syndrome · hypopituitarism and septooptic 'dysplasia' · septo-optic dysplasia · septo-optic dysplasia sequence · septo-optic dysplasia with growth hormone deficiency
Subtypes
| Disease | Subtypes |
|---|---|
| Congenital absence of septum pellucidum | |
| Pagon stephan syndrome |
Rare disease
Projects
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