Traits

Traits linked to NDE1

nudE neurodevelopment protein 1

The Human Phenotype Ontology links 89 traits to NDE1, by body system: features seen in people with one of the gene's rare conditions.

NDE1

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of corpus callosum	Always
Global developmental delay	Always
Increased reflexes	Always
Intellectual disability, severe	Always
IQ less than 20	Always
Poor eye contact	Always
Self-mutilation	Always
Small brainstem	Always
Small cerebellum	Always
Ventriculomegaly	Always
4-layered lissencephaly	Very often (80–99%)
Abnormal corpus striatum morphology	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Microlissencephaly	Very often (80–99%)
Simplified gyral pattern	Very often (80–99%)
Abnormal dura mater morphology	Often (30–79%)
Babinski sign	Often (30–79%)
Colpocephaly	Often (30–79%)
Dysgenesis of the thalamus	Often (30–79%)
Epilepsy	Often (30–79%)
Fewer or absent grooves in brain	Often (30–79%)
Lethargy	Often (30–79%)
Profound global developmental delay	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Small hippocampus	Often (30–79%)
Thalamic edema	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Fewer and broader ridges in brain	Not recorded
Generalized myoclonic seizure	Not recorded
Hydranencephaly	Not recorded
Involuntary writhing movements in fingers, hands, toes, and feet	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Furrows in thickened skin on top of scalp	Always
Prominent nasal bridge	Always
Small head present at birth	Always
Wide nasal bridge	Always
Abnormal facial shape	Very often (80–99%)
Abnormal fontanelle morphology	Often (30–79%)
Abnormal internal carotid artery morphology	Often (30–79%)
Abnormality of cranium	Often (30–79%)
Narrow forehead	Often (30–79%)
Prominent back of the head	Often (30–79%)
Sloping forehead	Often (30–79%)
Small forehead	Often (30–79%)
Small retruded chin	Often (30–79%)
Stiff neck	Often (30–79%)
Wide nose	Often (30–79%)
Long, narrow head	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Diffuse skeletal muscle wasting	Always
Poor head control	Always
Spastic tetraplegia	Always
Abnormal muscle tone	Often (30–79%)
Opisthotonus	Often (30–79%)
Spastic diplegia	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)
Multiple joint contractures	Not recorded
Muscle degeneration	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blindness	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Abnormally close eyes	Often (30–79%)
Chorioretinal atrophy	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Retina issue	Sometimes (5–29%)
Bulging eye	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of cerebral artery	Often (30–79%)
Dilatation of the ventricular cavity	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Underdeveloped spleen	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Growth delay as children	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Short stature	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Inward turned thumb	Sometimes (5–29%)
Rocker bottom foot	Sometimes (5–29%)
Club feet	Not recorded

Abnormality of the ear

Trait	How often it is seen
Infantile sensorineural hearing impairment	Very often (80–99%)
Low-set ears	Often (30–79%)
Large ears	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Poor swallowing	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Antenatal intracerebral hemorrhage	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Atrophic pituitary gland	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Meningitis	Often (30–79%)

Abnormality of the respiratory system

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

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 NDE1 and how often each is seen. Find out more at hpo.jax.org.

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