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Traits
Traits linked to LFNG
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
The Human Phenotype Ontology links 42 traits to LFNG, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Scoliosis | Always |
| Supernumerary vertebral ossification centers | Always |
| Vertebral segmentation defect | Always |
| Abnormal intervertebral disk morphology | Very often (80–99%) |
| Abnormal vertebral body morphology | Very often (80–99%) |
| Abnormality of the ribs | Very often (80–99%) |
| Rib fusion | Very often (80–99%) |
| Rib segmentation abnormalities | Very often (80–99%) |
| Shorter than typical length between neck and abdomen | Very often (80–99%) |
| Hunched back | Often (30–79%) |
| Congenital diaphragmatic hernia | Sometimes (5–29%) |
| Hypoplasia of the odontoid process | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Short neck | Very often (80–99%) |
| Abnormally small head | Sometimes (5–29%) |
| Big calvaria | Sometimes (5–29%) |
| Broad forehead | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Depressed nasal bridge | Sometimes (5–29%) |
| Long philtrum | Sometimes (5–29%) |
| Nasal tip, upturned | Sometimes (5–29%) |
| Prominent back of the head | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormal morphology of female internal genitalia | Sometimes (5–29%) |
| Abnormality of the ureter | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
| Urogenital fistula | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Contracture of the proximal interphalangeal joint of the 2nd finger | Always |
| Slender finger | Always |
| Finger syndactyly | Sometimes (5–29%) |
| Permanent flexion of the finger | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Intellectual disability | Sometimes (5–29%) |
| Meningocele | Sometimes (5–29%) |
| Spina bifida occulta | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
| Anomalous pulmonary venous return | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Inguinal hernia | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Always |
| Prenatal growth deficiency | Very often (80–99%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Ears rotated toward back of head | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Abnormality of immune system physiology | Very often (80–99%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Respiratory function loss | Very often (80–99%) |
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 LFNG and how often each is seen. Find out more at hpo.jax.org.
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