Trait

Hypoplastic optic chiasm

Developmental defect characterized by undergrowth of the optic chiasm.

Also called: Optic chiasm hypoplasia
Body system: Abnormality of the eye

This page as data

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library(jsonlite)

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page <- fromJSON(url)
page$trait$name

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7 genes linked to Hypoplastic optic chiasm

Changes in these genes cause rare conditions in which Hypoplastic optic chiasm is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
OTX2orthodenticle homeobox 2	Always	In 1 condition
RBSNrabenosyn, RAB effector	Always	In 1 condition
TBC1D32TBC1 domain family member 32	Always	In 1 condition
ALDH1A3aldehyde dehydrogenase 1 family member A3	Often (30–79%)	In 1 condition
TRAPPC12trafficking protein particle complex subunit 12	Often (30–79%)	In 1 condition
DIAPH1diaphanous related formin 1	Sometimes (5–29%)	In 1 condition
OPA1OPA1 mitochondrial dynamin like GTPase	Sometimes (5–29%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal optic chiasm morphology

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.17-8666dff2.

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