Traits

Traits linked to NPAP1

nuclear pore associated protein 1

The Human Phenotype Ontology links 91 traits to NPAP1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	나타나는 빈도
Intellectual disability	항상
Delayed speech and language development	매우 자주 (80–99%)
Global developmental delay	매우 자주 (80–99%)
Motor delay	매우 자주 (80–99%)
Self-injurious behavior	매우 자주 (80–99%)
Specific learning disability	매우 자주 (80–99%)
Attention deficit	자주 (30–79%)
Behavioral abnormality	자주 (30–79%)
Difficulty sleeping	자주 (30–79%)
Excessive daytime sleepiness	자주 (30–79%)
Impaired pain sensation	자주 (30–79%)
Increased appetite	자주 (30–79%)
Pauses in breathing while sleeping	자주 (30–79%)
Ventriculomegaly	자주 (30–79%)
Autism	가끔 (5–29%)
Epilepsy	가끔 (5–29%)
Poor fine motor coordination	가끔 (5–29%)
Psychosis	가끔 (5–29%)
Poor gross motor coordination	기록되지 않음

Trait	나타나는 빈도
Infertility	매우 자주 (80–99%)
Underdevelopment of external reproductive organs	매우 자주 (80–99%)
Undescended testes	매우 자주 (80–99%)
Light or infrequent menstrual periods	자주 (30–79%)
Short penis	자주 (30–79%)
Small clitoris	자주 (30–79%)
Underdeveloped inner lips	자주 (30–79%)
Primary amenorrhea	가끔 (5–29%)
Smaller than typical growth of scrotum	기록되지 않음

Trait	나타나는 빈도
Almond shaped eyes	자주 (30–79%)
Downturned corners of mouth	자주 (30–79%)
Narrow forehead	자주 (30–79%)
Narrow nasal bridge	자주 (30–79%)
Thin red part of the upper lip	자주 (30–79%)
Dental cavities	가끔 (5–29%)
Upward slanting of the opening between the eyelids	가끔 (5–29%)
Long, narrow head	기록되지 않음

Trait	나타나는 빈도
Low muscle tone, in neonatal onset	항상
Generalized decreased muscle tone	매우 자주 (80–99%)
Scoliosis	매우 자주 (80–99%)
Abnormal formation of the hip	자주 (30–79%)
Decreased muscle mass	자주 (30–79%)
Hunched back	자주 (30–79%)
Osteopenia	가끔 (5–29%)
Osteoporosis	가끔 (5–29%)

Trait	나타나는 빈도
Decreased circulating high-density lipoprotein cholesterol	자주 (30–79%)
Elevated serum cholesterol	자주 (30–79%)
Fluid retention	자주 (30–79%)
Increased plasma triglycerides	가끔 (5–29%)
Noninsulin-dependent diabetes	가끔 (5–29%)
Temperature instability	가끔 (5–29%)
Hyperinsulinemia	기록되지 않음

Trait	나타나는 빈도
Less than 10 fetal movements in 12 hours	자주 (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	가끔 (5–29%)
High levels of amniotic fluid	가끔 (5–29%)
Low 1-minute APGAR score	가끔 (5–29%)
Low 5-minute APGAR score	가끔 (5–29%)
Low levels of amniotic fluid	가끔 (5–29%)

Trait	나타나는 빈도
Decreased response to growth hormone stimulation test	매우 자주 (80–99%)
Hypogonadotropic hypogonadism	매우 자주 (80–99%)
Delayed puberty	자주 (30–79%)
Adrenal insufficiency	드물게 (1–4%)
Early onset of puberty	기록되지 않음

Trait	나타나는 빈도
Feeding difficulties in infancy	매우 자주 (80–99%)
Poor suck	매우 자주 (80–99%)
Tube feeding	매우 자주 (80–99%)
Chronic constipation	자주 (30–79%)

Trait	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)

Trait	나타나는 빈도
Slow breathing	기록되지 않음

Trait	나타나는 빈도
Nasal speech	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NPAP1 and how often each is seen. Find out more at hpo.jax.org.

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