Traits

Traits linked to NDC1

NDC1 transmembrane nucleoporin

The Human Phenotype Ontology links 66 traits to NDC1, by body system: features seen in people with one of the gene's rare conditions.

NDC1

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Delayed speech and language development	Always
Demyelinating motor neuropathy	Always
Difficulty articulating speech	Always
Global developmental delay	Always
Increased reflexes	Always
Peripheral nerve disease	Always
Peripheral neuropathy	Always
Seizure affecting one half of brain	Always
Delayed ability to walk	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Anxiety	Often (30–79%)
Intellectual disability	Often (30–79%)
Interictal EEG abnormality	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Coxa vara	Always
Decreased arm strength	Always
High-arched foot	Always
Knee contracture	Always
Lower limb muscle weakness	Always
Pes valgus	Always
Small hand	Always
Small hypothenar eminence	Always
Tapered finger	Always
Absent ankle reflexes	Often (30–79%)
Hyporeflexia of lower limbs	Often (30–79%)
Hyporeflexia of upper limbs	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Death of bone due to decreased blood supply	Always
Distal muscle wasting	Always
Elbow contracture	Always
EMG: neuropathic changes	Always
Frequent falls	Always
Low muscle tone	Always
Muscle tissue disease	Always
Scoliosis	Always
Weakness of outermost muscles	Always
Muscle weakness	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Skin tag in front of the ear	Always
Tongue twitching	Always
Downward slanting of the opening between the eyelids	Often (30–79%)
High palate	Often (30–79%)
Long nose	Often (30–79%)
Wasting of the tongue	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Abnormally small head	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Episodic vomiting	Always
Poor swallowing	Always
Achalasia	Often (30–79%)
Feeding difficulties	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Absence of tears in the eyes	Always
Blindness	Always
Cerebral visual impairment	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Dilation of Virchow-Robin spaces	Always
Decreased heart rate variability	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Few cafe-au-lait spots	Always
Hyperkeratosis	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Always
Chest pain	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Urolithiasis	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Aspiration	Always

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Always

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 NDC1 and how often each is seen. Find out more at hpo.jax.org.

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