Traits

Traits linked to NIN

ninein

The Human Phenotype Ontology links 47 traits to NIN, 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
Abnormally small head	Always
Prominent nose	Always
Beaked nose	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Narrow face	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Decreased number of teeth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Sparse scalp hair	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Intellectual disability, severe	Always
Severe global developmental delay	Always
Cognitive impairment	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)
Global developmental delay	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Severe short stature	Always
Short stature	Very often (80–99%)
Wasting syndrome	Very often (80–99%)
Obesity	Often (30–79%)
Severe growth delay in children	Often (30–79%)
Severe prenatal growth deficiency	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Abnormal wrist bones	Always
Curvature of little finger	Always
Madelung deformity	Always
Gap between 1st and 2nd toes	Very often (80–99%)
Limb undergrowth	Often (30–79%)
Short middle bone of the little finger	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Always
Delayed bone maturation	Always
Lumbar scoliosis	Always
Cone-shaped end part of bone	Often (30–79%)
Double-Jointed	Often (30–79%)
Scoliosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Small ears	Always
Abnormal earlobe	Often (30–79%)
Absent earlobe	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Always
Glaucoma	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	Always
Small uterus	Always

Abnormality of the breast

Trait	How often it is seen
Two underdeveloped breasts	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Central hypothyroidism	Always

Abnormality of the integument

Trait	How often it is seen
Prematurely aged appearance	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Subglottic stenosis	Often (30–79%)

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

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