Traits

Traits linked to NGLY1

N-glycanase 1

The Human Phenotype Ontology links 146 traits to NGLY1, by body system: features seen in people with one of the gene's rare conditions.

NGLY1

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of movement	Always
Decreased sensory nerve conduction velocity	Always
Delayed CNS myelination	Always
Elevated brain choline level by MRS	Always
Gliosis	Always
Global developmental delay	Always
High myoinositol in brain by MRS	Always
Intellectual disability	Always
Motor regression	Always
Pain insensitivity	Always
Peripheral nerve disease	Always
Reduced brain glutamine level by MRS	Always
Reduced brain N-acetyl aspartate level by MRS	Always
Restlessness	Always
Degeneration of cerebrum	Very often (80–99%)
Hyperactive movements	Very often (80–99%)
Involuntary movements	Very often (80–99%)
Nerve damage causing decreased feeling and movement	Very often (80–99%)
Suck reflex	Very often (80–99%)
Abnormal myelination	Often (30–79%)
Absent speech development	Often (30–79%)
Choreoathetosis	Often (30–79%)
Decreased CSF/serum albumin ratio	Often (30–79%)
Decreased reflex response	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Delayed myelination	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Inability to walk	Often (30–79%)
IQ less than 20	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Obstructive sleep apnea	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Poor speech	Often (30–79%)
Action tremor	Sometimes (5–29%)
Astasia	Sometimes (5–29%)
Axonal loss	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Central sleep apnea	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Delayed ability to sit	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Focal emotional seizure with laughing	Sometimes (5–29%)
Focal tonic seizure	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Lingual dystonia	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Lack of coordination of movement	Not recorded

Laboratory abnormality

Trait	How often it is seen
Chondroitin sulfate excretion in urine	Always
Heparan sulfate excretion in urine	Always
Keratan sulfate excretion in urine	Always
3-Methylglutaconic aciduria	Often (30–79%)
Decreased circulating LDL-C concentration	Often (30–79%)
Decreased CSF 5-hydroxyindolacetic acid concentration	Often (30–79%)
Decreased CSF albumin concentration	Often (30–79%)
Decreased CSF biopterin level	Often (30–79%)
Decreased CSF homovanillic acid concentration	Often (30–79%)
Decreased CSF protein concentration	Often (30–79%)
Elevated circulating alpha-fetoprotein concentration	Often (30–79%)
High liver enzymes	Often (30–79%)
Higher than normal levels of lactate in blood	Often (30–79%)
Low blood triglyceride levels	Often (30–79%)
Decreased resting energy expenditure	Sometimes (5–29%)
Generalized aminoaciduria	Sometimes (5–29%)
Increased blood alanine	Sometimes (5–29%)
Microvesicular hepatic steatosis	Sometimes (5–29%)
Fever	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal opacity	Always
Absence of tears in the eyes	Very often (80–99%)
Cross-eyed	Often (30–79%)
Decreased tear secretion	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Wide-set eyes	Often (30–79%)
Corneal scarring	Sometimes (5–29%)
Corneal ulceration	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Staring gaze	Sometimes (5–29%)
Cone/cone-rod dystrophy	Rarely (1–4%)
Drooping of both upper eyelids	Rarely (1–4%)
New blood vessel formation in cornea	Rarely (1–4%)
Optic atrophy	Rarely (1–4%)
Optic disc pallor	Rarely (1–4%)
Outward facing eye ball	Rarely (1–4%)
Pigmentary retinopathy	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Decreased facial muscle tone	Always
Abnormally small head	Often (30–79%)
Development of small head that was not present at birth	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Open mouth	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Small forehead	Sometimes (5–29%)
Eyelids stay open	Rarely (1–4%)
Broad head shape	Not recorded
Narrow face	Not recorded
Nasal tip, upturned	Not recorded
Sunken cheeks	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Increased susceptibility to fractures	Often (30–79%)
Osteoporosis	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Fatigable weakness of speech muscles	Sometimes (5–29%)
Limb contractures	Sometimes (5–29%)
Low solidness and mass of the bones	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Shoulder dislocation	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short foot	Always
Small hand	Very often (80–99%)
Intrinsic hand muscle atrophy	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Acromesomelia	Sometimes (5–29%)
Coxa valga	Sometimes (5–29%)
Dislocated hip since birth	Sometimes (5–29%)
Increased bone density in the finger bone	Sometimes (5–29%)
Shortening of the achilles tendon	Sometimes (5–29%)
Tarsal sclerosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Impaired oropharyngeal swallow response	Always
Oral-pharyngeal dysphagia	Always
Impaired oral bolus formation	Very often (80–99%)
Chronic constipation	Often (30–79%)
Enlarged liver	Often (30–79%)
Hepatic fibrosis	Sometimes (5–29%)
Micronodular cirrhosis	Sometimes (5–29%)
Nodular regenerative hyperplasia of liver	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hypofibrinogenemia	Sometimes (5–29%)
Prolonged prothrombin time	Sometimes (5–29%)
Reduced factor XI activity	Sometimes (5–29%)
Reduced protein C activity	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Small for gestational age	Often (30–79%)
Decreased body weight	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Dilation of Virchow-Robin spaces	Always
Increased spleen size	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	Often (30–79%)
Lack of sweating	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

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
Breathing difficulties	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Pain	Not recorded

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 NGLY1 and how often each is seen. Find out more at hpo.jax.org.

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