Traits

Traits linked to OCA2

OCA2 melanosomal transmembrane protein

The Human Phenotype Ontology links 141 traits to OCA2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
EEG abnormality	Heel vaak (80–99%)
EEG with abnormally slow frequencies	Heel vaak (80–99%)
Epilepsy	Heel vaak (80–99%)
Global developmental delay	Heel vaak (80–99%)
Increased appetite	Heel vaak (80–99%)
Neurodevelopmental delay	Heel vaak (80–99%)
Ventriculomegaly	Heel vaak (80–99%)
Abnormal eating behavior	Vaak (30–79%)
Abnormal speech pattern	Vaak (30–79%)
Abnormal temper tantrums	Vaak (30–79%)
Autism	Vaak (30–79%)
Autism spectrum disorder	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Binge and purge	Vaak (30–79%)
Delayed myelination	Vaak (30–79%)
Difficulty sleeping	Vaak (30–79%)
Happy demeanor	Vaak (30–79%)
Inappropriate laughter	Vaak (30–79%)
Intellectual disability, borderline	Vaak (30–79%)
Intellectual disability, mild	Vaak (30–79%)
Intellectual disability, severe	Vaak (30–79%)
IQ between 34 and 49	Vaak (30–79%)
More active than typical	Vaak (30–79%)
Obsessive-compulsive trait	Vaak (30–79%)
Occipital cortical atrophy	Vaak (30–79%)
Overactive lower leg reflex	Vaak (30–79%)
Parietal cortical atrophy	Vaak (30–79%)
Perisylvian polymicrogyria	Vaak (30–79%)
Psychosis	Vaak (30–79%)
Self-injurious behavior	Vaak (30–79%)
Short attention span	Vaak (30–79%)
Skin-picking	Vaak (30–79%)
Specific learning disability	Vaak (30–79%)
Speech articulation difficulties	Vaak (30–79%)
Tongue thrusting	Vaak (30–79%)
Underdevelopment of part of brain called corpus callosum	Vaak (30–79%)
Abnormality of balance	Soms (5–29%)
Abnormality of movement	Soms (5–29%)
Absent speech development	Soms (5–29%)
Ataxia	Soms (5–29%)
Impaired temperature sensation	Soms (5–29%)
Jerking	Soms (5–29%)
Obstructive sleep apnea	Soms (5–29%)
Poor speech	Soms (5–29%)
Recurrent hand flapping	Soms (5–29%)
Shortened sleep phase	Soms (5–29%)
Tremor	Soms (5–29%)
Wide based walk	Soms (5–29%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Abnormal retinal pigmentation	Vaak (30–79%)
Abnormality of refraction	Vaak (30–79%)
Abnormality of vision	Vaak (30–79%)
Blue eyes	Vaak (30–79%)
Cross-eyed	Vaak (30–79%)
Decreased clarity of vision	Vaak (30–79%)
Different colored eyes	Vaak (30–79%)
Extreme sensitivity of the eyes to light	Vaak (30–79%)
Hypoplasia of the fovea	Vaak (30–79%)
Involuntary, rapid, rhythmic eye movements	Vaak (30–79%)
Iris transillumination defect	Vaak (30–79%)
Light eye color	Vaak (30–79%)
Macular hypopigmentation	Vaak (30–79%)
Optic nerve misrouting	Vaak (30–79%)
Posterior staphyloma	Soms (5–29%)
Close sighted	Niet vastgelegd
Fundus hypopigmentation	Niet vastgelegd
Outward facing eye ball	Niet vastgelegd
Visual impairment	Niet vastgelegd

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Development of small head that was not present at birth	Heel vaak (80–99%)
Head stopped growing	Heel vaak (80–99%)
Almond shaped eyes	Vaak (30–79%)
Drooling	Vaak (30–79%)
Flat back of skull	Vaak (30–79%)
Protruding tongue	Vaak (30–79%)
White eyebrow	Vaak (30–79%)
Wide mouth	Vaak (30–79%)
Widely spaced teeth	Vaak (30–79%)
Abnormal facial shape	Soms (5–29%)
Big lower jaw	Soms (5–29%)
Downturned corners of mouth	Soms (5–29%)
Mild microcephaly	Soms (5–29%)
Thin red part of the upper lip	Soms (5–29%)
White eyelashes	Soms (5–29%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Central adrenal insufficiency	Vaak (30–79%)
Central hypothyroidism	Vaak (30–79%)
Decreased circulating gonadotropin concentration	Vaak (30–79%)
Decreased circulating T4 concentration	Vaak (30–79%)
Decreased response to growth hormone stimulation test	Vaak (30–79%)
Delayed puberty	Vaak (30–79%)
Hypogonadotropic hypogonadism	Vaak (30–79%)
Premature adrenarche	Vaak (30–79%)
Premature pubic hair growth	Vaak (30–79%)
Underdeveloped pituitary gland	Vaak (30–79%)
Decreased circulating inhibin B concentration	Soms (5–29%)
Early onset of puberty	Zelden (1–4%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Freckling	Vaak (30–79%)
Loss of hair color	Vaak (30–79%)
Patchy lightened skin	Vaak (30–79%)
White hair	Vaak (30–79%)
Absent skin pigmentation	Soms (5–29%)
Basal cell carcinoma	Soms (5–29%)
Cutaneous melanoma	Soms (5–29%)
Squamous cell carcinoma of the skin	Soms (5–29%)
Hyperpigmented nevi	Zelden (1–4%)
Albinism	Niet vastgelegd
Freckles in sun-exposed areas	Niet vastgelegd
Red hair	Niet vastgelegd

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Undescended testes	Heel vaak (80–99%)
Decreased testicular size	Vaak (30–79%)
Infertility	Vaak (30–79%)
Primary amenorrhea	Vaak (30–79%)
Small clitoris	Vaak (30–79%)
Smaller than typical growth of scrotum	Vaak (30–79%)
Underdeveloped inner lips	Vaak (30–79%)
Underdevelopment of external reproductive organs	Vaak (30–79%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Decreased muscle tone in infant	Vaak (30–79%)
Functional motor deficit	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Scoliosis	Vaak (30–79%)
Abnormal formation of the hip	Soms (5–29%)
Osteopenia	Soms (5–29%)
Osteoporosis	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Feeding difficulties in infancy	Heel vaak (80–99%)
Constipation	Vaak (30–79%)
Feeding difficulties	Vaak (30–79%)
Poor suck	Vaak (30–79%)
Delayed gastric emptying	Soms (5–29%)
Poor swallowing	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Short foot	Vaak (30–79%)
Small hand	Vaak (30–79%)
Fluid accumulation in lower limbs	Soms (5–29%)
Limitation of movement at ankles	Soms (5–29%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Obesity	Heel vaak (80–99%)
Faltering weight	Vaak (30–79%)
Short stature	Vaak (30–79%)
Small for gestational age	Soms (5–29%)

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
Postterm pregnancy	Vaak (30–79%)
Less than 10 fetal movements in 12 hours	Soms (5–29%)

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Diabetes mellitus	Vaak (30–79%)
Heat intolerance	Soms (5–29%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Recurrent respiratory infections	Vaak (30–79%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Central apnea	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

The Human Phenotype Ontology, release 2026-09-01: the traits linked to OCA2 and how often each is seen. Find out more at hpo.jax.org.

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