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

Abnormality of the eye

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

Abnormality of head or neck

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

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Central adrenal insufficiency	Sık (%30–79)
Central hypothyroidism	Sık (%30–79)
Decreased circulating gonadotropin concentration	Sık (%30–79)
Decreased circulating T4 concentration	Sık (%30–79)
Decreased response to growth hormone stimulation test	Sık (%30–79)
Delayed puberty	Sık (%30–79)
Hypogonadotropic hypogonadism	Sık (%30–79)
Premature adrenarche	Sık (%30–79)
Premature pubic hair growth	Sık (%30–79)
Underdeveloped pituitary gland	Sık (%30–79)
Decreased circulating inhibin B concentration	Bazen (%5–29)
Early onset of puberty	Seyrek (%1–4)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Freckling	Sık (%30–79)
Loss of hair color	Sık (%30–79)
Patchy lightened skin	Sık (%30–79)
White hair	Sık (%30–79)
Absent skin pigmentation	Bazen (%5–29)
Basal cell carcinoma	Bazen (%5–29)
Cutaneous melanoma	Bazen (%5–29)
Squamous cell carcinoma of the skin	Bazen (%5–29)
Hyperpigmented nevi	Seyrek (%1–4)
Albinism	Kaydedilmedi
Freckles in sun-exposed areas	Kaydedilmedi
Red hair	Kaydedilmedi

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Undescended testes	Çok sık (%80–99)
Decreased testicular size	Sık (%30–79)
Infertility	Sık (%30–79)
Primary amenorrhea	Sık (%30–79)
Small clitoris	Sık (%30–79)
Smaller than typical growth of scrotum	Sık (%30–79)
Underdeveloped inner lips	Sık (%30–79)
Underdevelopment of external reproductive organs	Sık (%30–79)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Decreased muscle tone in infant	Sık (%30–79)
Functional motor deficit	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Scoliosis	Sık (%30–79)
Abnormal formation of the hip	Bazen (%5–29)
Osteopenia	Bazen (%5–29)
Osteoporosis	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Feeding difficulties in infancy	Çok sık (%80–99)
Constipation	Sık (%30–79)
Feeding difficulties	Sık (%30–79)
Poor suck	Sık (%30–79)
Delayed gastric emptying	Bazen (%5–29)
Poor swallowing	Bazen (%5–29)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Short foot	Sık (%30–79)
Small hand	Sık (%30–79)
Fluid accumulation in lower limbs	Bazen (%5–29)
Limitation of movement at ankles	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Obesity	Çok sık (%80–99)
Faltering weight	Sık (%30–79)
Short stature	Sık (%30–79)
Small for gestational age	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Postterm pregnancy	Sık (%30–79)
Less than 10 fetal movements in 12 hours	Bazen (%5–29)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Diabetes mellitus	Sık (%30–79)
Heat intolerance	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Sık (%30–79)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Central apnea	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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