Traits

Traits linked to DICER1

dicer 1, ribonuclease III

The Human Phenotype Ontology links 43 traits to DICER1, 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
Big calvaria	Always
Depressed nasal bridge	Always
Frontal bossing	Always
Little lower jaw	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Pit in front of the ear	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Multinodular goiter	Always
Thyroid carcinoma	Rarely (1–4%)
Enlarged thyroid gland in neck	Not recorded
Euthyroid multinodular goiter	Not recorded
Overactive thyroid	Not recorded
Papillary thyroid carcinoma	Not recorded
Thyroid nodule	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Nephroblastoma	Always
Cancer starting in small tubes in kidneys	Often (30–79%)
Enlarged kidney	Often (30–79%)
Ovarian cancer	Often (30–79%)
Sertoli cell neoplasm	Often (30–79%)
Testicular seminoma	Often (30–79%)
Ovarian thecoma	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Often (30–79%)
Hunched back	Often (30–79%)
Alveolar rhabdomyosarcoma	Rarely (1–4%)
Embryonal rhabdomyosarcoma	Not recorded
Rhabdomyosarcoma	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Often (30–79%)
Colorectal polyposis	Often (30–79%)
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Autism	Often (30–79%)
Global developmental delay	Often (30–79%)
Cerebellar medulloblastoma	Rarely (1–4%)
Medulloblastoma	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Basal cell carcinoma	Often (30–79%)
Spinal dimple	Often (30–79%)
Pilomatrixoma	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Pulmonary cyst	Always
Pleuropulmonary blastoma	Often (30–79%)

Growth abnormality

Trait	How often it is seen
General overgrowth	Always
Birth weight > 90th percentile	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Medulloepithelioma	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always

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 DICER1 and how often each is seen. Find out more at hpo.jax.org.

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