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Trait

Decreased bone formation of skull

Clinical name: Decreased skull ossification

A reduction in the magnitude or amount of ossification of the skull.

HPO HP:0004331

Summary

Also called
Decreased calcification of skull, Decreased mineralization of skull, Deficient skull ossification, Hypoossification of skull, Ossification defect of skull, Poorly mineralized skull, Poorly ossified skull, Poorly ossified skull bones
Body system
Abnormality of head or neckAbnormality of the musculoskeletal system

22 genes linked to Decreased bone formation of skull

Changes in these genes cause rare conditions in which Decreased bone formation of skull 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.

GeneHow often it is seenConditions
BMPERBMP binding endothelial regulatorAlwaysIn 1 condition
TRIP11thyroid hormone receptor interactor 11AlwaysIn 1 condition
ALG9ALG9 alpha-1,2-mannosyltransferaseVery often (80–99%)In 1 condition
ALX4ALX homeobox 4Very often (80–99%)In 1 condition
EXT2exostosin glycosyltransferase 2Very often (80–99%)In 1 condition
LMNAlamin A/CVery often (80–99%)In 1 condition
NOTCH2notch receptor 2Very often (80–99%)In 1 condition
PHF21APHD finger protein 21AVery often (80–99%)In 1 condition
SEC23ASEC23 homolog A, COPII componentVery often (80–99%)In 1 condition
SLC25A24solute carrier family 25 member 24Very often (80–99%)In 1 condition
ZMPSTE24zinc metallopeptidase STE24Very often (80–99%)In 1 condition
FAM111AFAM111 trypsin like peptidase AOften (30–79%)In 2 conditions
FIG4FIG4 phosphoinositide 5-phosphataseOften (30–79%)In 2 conditions
LBRlamin B receptorOften (30–79%)In 2 conditions
RUNX2RUNX family transcription factor 2Often (30–79%)In 1 condition
TBCEtubulin folding cofactor EOften (30–79%)In 2 conditions
VAC14VAC14 component of PIKFYVE complexOften (30–79%)In 1 condition
ANTXR1ANTXR cell adhesion molecule 1Sometimes (5–29%)In 1 condition
SLC25A19solute carrier family 25 member 19Sometimes (5–29%)In 1 condition
HDAC6histone deacetylase 6Not recordedIn 1 condition
P3H1prolyl 3-hydroxylase 1Not recordedIn 1 condition
TAPT1transmembrane anterior posterior transformation 1Not recordedIn 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.

Narrower traits

Broader traits

Abnormal bone maturationAbnormality of bone formation of cranium

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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