Traits

Traits linked to NELFA

negative elongation factor complex member A

The Human Phenotype Ontology links 95 traits to NELFA, by body system: features seen in people with one of the gene's rare conditions.

NELFA

Abnormality of head or neck

Trait	How often it is seen
Abnormal lip	Very often (80–99%)
Abnormality of the mouth	Very often (80–99%)
Abnormality of the philtrum	Very often (80–99%)
Abnormally small head	Very often (80–99%)
Downturned corners of mouth	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Eye folds	Very often (80–99%)
Failure of development of between one and six teeth	Very often (80–99%)
Frontal bossing	Very often (80–99%)
High forehead	Very often (80–99%)
High frontal hairline	Very often (80–99%)
Highly arched eyebrow	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Low hairline at back of neck	Very often (80–99%)
Short philtrum	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Cleft upper lip	Often (30–79%)
Cranial defect	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Pit in front of the ear	Often (30–79%)
Taurodontia	Often (30–79%)
Cleft palate	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Abnormal vertebral body morphology	Often (30–79%)
Abnormal vertebral morphology	Often (30–79%)
Abnormality of the chest	Often (30–79%)
Abnormality of the vertebral column	Often (30–79%)
Congenital diaphragmatic hernia	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Hunched back	Often (30–79%)
Hypoplastic pubic ramus	Often (30–79%)
Rib fusion	Often (30–79%)
Rib segmentation abnormalities	Often (30–79%)
Scoliosis	Often (30–79%)
Hernia	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Cat eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Optic atrophy	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Enlarged cornea	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Hardening of skin and connective tissue	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Noninflammatory retina disease	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Difficulty sleeping	Often (30–79%)
Tethered cord	Often (30–79%)
Abnormality of movement	Sometimes (5–29%)
Absent/small cerebellum	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormal feet structure	Often (30–79%)
Club feet	Often (30–79%)
Extra thumb	Often (30–79%)
Long slender fingers	Often (30–79%)
Short big toe	Often (30–79%)
Short thumb	Often (30–79%)
Split hand	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Very often (80–99%)
Abnormality of the kidney	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormality of the reproductive system	Sometimes (5–29%)
Absent uterus	Sometimes (5–29%)
Streak ovary	Sometimes (5–29%)
Urinary tract abnormalities	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
Abnormal cardiovascular system morphology	Often (30–79%)
Abnormal heart valve morphology	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Strawberry mark	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Small ears	Very often (80–99%)
Hearing impairment	Often (30–79%)
Chronic infections of the middle ear	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Abdominal situs inversus	Sometimes (5–29%)
Abnormality of the gallbladder	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	Often (30–79%)
Focal absence of scalp tissue	Often (30–79%)
Spinal dimple	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Disproportionate tall stature	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of the immune system	Sometimes (5–29%)
Recurrent respiratory infections	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Very often (80–99%)

Abnormality of the breast

Trait	How often it is seen
Absent/small nipples	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Absent/small lungs	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 NELFA and how often each is seen. Find out more at hpo.jax.org.

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