Traits

Traits linked to POC1A

POC1 centriolar protein A

The Human Phenotype Ontology links 47 traits to POC1A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Broad nasal tip	Always
High forehead	Always
Long philtrum	Always
Triangular face	Always
Abnormal dentition	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Abnormally small head	Not recorded
Big calvaria	Not recorded
Big lower jaw	Not recorded
Long face	Not recorded
Pointed chin	Not recorded
Prominent forehead	Not recorded
Prominent nose	Not recorded

Abnormality of limbs

Trait	How often it is seen
Disproportionately short upper portion of limb	Always
Short foot	Always
Small hand	Always
Curvature of digit	Not recorded
Short fingers or toes	Not recorded
Short long bone of foot	Not recorded
Short neck of thighbone	Not recorded
Short outermost finger bone	Not recorded
Shortened long bone of hand	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Cone-shaped end part of bone	Not recorded
Hypoplastic pelvis	Not recorded
Small sacrum	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Loss of developmental milestones	Sometimes (5–29%)
High pitched voice	Not recorded
Waddling gait	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Small ears	Not recorded

Abnormality of the integument

Trait	How often it is seen
Atypical nail growth	Not recorded
Small nail	Not recorded
Sparse hair	Not recorded

Growth abnormality

Trait	How often it is seen
Small for gestational age	Always
Faltering weight	Often (30–79%)
Growth delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Deeply set eye	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Small clitoris	Sometimes (5–29%)
Low sperm count	Not recorded

Abnormality of the breast

Trait	How often it is seen
Underdeveloped breasts	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Sometimes (5–29%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to POC1A and how often each is seen. Find out more at hpo.jax.org.

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