Trait
Lobar holoprosencephaly
A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.
Summary
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Read the genes linked to Lobar holoprosencephaly, and the rest of your genome, with one test.
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Get my Genome Test26 genes linked to Lobar holoprosencephaly
Changes in these genes cause rare conditions in which Lobar holoprosencephaly 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 |
|---|---|---|
| KDM6Alysine demethylase 6A | Always | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Always | In 1 condition |
| RAD21RAD21 cohesin complex component | Always | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Always | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 2 conditions |
| B9D1B9 domain containing 1 | Often (30–79%) | In 1 condition |
| B9D2B9 domain containing 2 | Often (30–79%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Often (30–79%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Often (30–79%) | In 1 condition |
| TCTN1tectonic family member 1 | Often (30–79%) | In 1 condition |
| TCTN2tectonic family member 2 | Often (30–79%) | In 1 condition |
| TCTN3tectonic family member 3 | Often (30–79%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 1 condition |
| TMEM107transmembrane protein 107 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TMEM237transmembrane protein 237 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | 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
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 2026.10.16-c6eea6bf.
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