/septooptic dysplasia

septooptic dysplasia

Rare Disease

MONDO:0008428

Also Known As

De Morsier syndromeSODsepto-optic dysplasiasepto-optic dysplasia sequenceseptooptic dysplasiaGrowth hormone deficiency with pituitary anomalieshypopituitarism and septooptic 'dysplasia'pituitary hormone deficiency, combined, 5septo-optic dysplasia spectrumsepto-optic dysplasia with growth hormone deficiency

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.

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Associated Genes

HESX1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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septooptic dysplasia

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases