Trait

Abnormality of the scalp

Clinical name: Abnormal scalp morphology

Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.

HPO HP:0001965

Also called: Anomaly of scalp
Body system: Abnormality of head or neck

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6 genes linked to Abnormality of the scalp

Changes in these genes cause rare conditions in which Abnormality of the scalp 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
KCTD1potassium channel tetramerization domain containing 1	Very often (80–99%)	In 1 condition
COL7A1collagen type VII alpha 1 chain	Often (30–79%)	In 4 conditions
MMP1matrix metallopeptidase 1	Often (30–79%)	In 1 condition
FLI1Fli-1 proto-oncogene, ETS transcription factor	Sometimes (5–29%)	In 1 condition
MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	Sometimes (5–29%)	In 1 condition
COL17A1collagen type XVII alpha 1 chain	Not recorded	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.

Narrower traits

Broader traits

Abnormality of the head

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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