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	How often it is seen
Intellectual disability	Always
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Motor delay	Very often (80–99%)
Self-injurious behavior	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Excessive daytime sleepiness	Often (30–79%)
Impaired pain sensation	Often (30–79%)
Increased appetite	Often (30–79%)
Pauses in breathing while sleeping	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Autism	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Poor fine motor coordination	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Poor gross motor coordination	Not recorded

Abnormality of limbs

Trait	How often it is seen
Narrow palm	Very often (80–99%)
Short foot	Very often (80–99%)
Short palm	Very often (80–99%)
Radial deviation of finger	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Acromicria	Not recorded
Curvature of digit	Not recorded
Knock knees	Not recorded
Small hand	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Infertility	Very often (80–99%)
Underdevelopment of external reproductive organs	Very often (80–99%)
Undescended testes	Very often (80–99%)
Light or infrequent menstrual periods	Often (30–79%)
Short penis	Often (30–79%)
Small clitoris	Often (30–79%)
Underdeveloped inner lips	Often (30–79%)
Primary amenorrhea	Sometimes (5–29%)
Smaller than typical growth of scrotum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Almond shaped eyes	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Narrow forehead	Often (30–79%)
Narrow nasal bridge	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Dental cavities	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Long, narrow head	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Always
Generalized decreased muscle tone	Very often (80–99%)
Scoliosis	Very often (80–99%)
Abnormal formation of the hip	Often (30–79%)
Decreased muscle mass	Often (30–79%)
Hunched back	Often (30–79%)
Osteopenia	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating high-density lipoprotein cholesterol	Often (30–79%)
Elevated serum cholesterol	Often (30–79%)
Fluid retention	Often (30–79%)
Increased plasma triglycerides	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Temperature instability	Sometimes (5–29%)
Hyperinsulinemia	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Sometimes (5–29%)
High levels of amniotic fluid	Sometimes (5–29%)
Low 1-minute APGAR score	Sometimes (5–29%)
Low 5-minute APGAR score	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Very often (80–99%)
Short stature	Very often (80–99%)
Class III obesity	Often (30–79%)
Obesity	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)
Abdominal obesity	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Delayed puberty	Often (30–79%)
Adrenal insufficiency	Rarely (1–4%)
Early onset of puberty	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Very often (80–99%)
Poor suck	Very often (80–99%)
Tube feeding	Very often (80–99%)
Chronic constipation	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Close sighted	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Cross-eyed	Not recorded
Farsightedness	Not recorded

Abnormality of the integument

Trait	How often it is seen
Photosensitive skin	Often (30–79%)
Frontal upsweep of hair	Sometimes (5–29%)
Fair skin	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Slow breathing	Not recorded

Abnormality of the voice

Trait	How often it is seen
Nasal speech	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 NPAP1 and how often each is seen. Find out more at hpo.jax.org.

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