Traits

Traits linked to ATL1

atlastin GTPase 1

The Human Phenotype Ontology links 66 traits to ATL1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of balance	Very often (80–99%)
Abnormality of the autonomic nervous system	Very often (80–99%)
Babinski sign	Very often (80–99%)
Decreased amplitude of sensory action potentials	Very often (80–99%)
Decreased sensation in extremities	Very often (80–99%)
Overactive lower leg reflex	Very often (80–99%)
Abnormal gait	Often (30–79%)
Decreased touch sensation in extremities	Often (30–79%)
High stepping	Often (30–79%)
Impaired temperature sensation	Often (30–79%)
Pain insensitivity	Often (30–79%)
Trophic changes related to pain	Often (30–79%)
Impaired vibratory sensation	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Motor axonal neuropathy	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Difficulty articulating speech	Rarely (1–4%)
Hyperesthesia	Rarely (1–4%)
Slow movements	Rarely (1–4%)
Degeneration of the lateral corticospinal tracts	Not recorded
Distal sensory impairment of all modalities	Not recorded
Impaired vibration sensation in the lower limbs	Not recorded
Increased reflexes	Not recorded
Leg paralysis	Not recorded
Peripheral axonal neuropathy	Not recorded
Pins and needles feeling	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Distal lower limb amyotrophy	Often (30–79%)
Limb pain	Often (30–79%)
Spastic walk	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Distal muscle wasting	Sometimes (5–29%)
EMG: slow motor conduction	Sometimes (5–29%)
Neuropathic arthropathy	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)
Frequent falls	Rarely (1–4%)
Rigidity	Rarely (1–4%)
Scoliosis	Not recorded
Spastic paraplegia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Always
Distal lower limb muscle weakness	Very often (80–99%)
Abnormal rhythmic movements of ankle	Often (30–79%)
Foot drop	Often (30–79%)
Lower limb hypertonia	Rarely (1–4%)
Autoamputation of digits	Not recorded
High-arched foot	Not recorded

Abnormality of the integument

Trait	How often it is seen
Hyperkeratosis	Often (30–79%)
Lack of sweating or excessive sweating	Often (30–79%)
Open skin sore	Often (30–79%)
Penetrating foot ulcers	Often (30–79%)
Poor wound healing	Often (30–79%)
Poor nail formation	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Urinary urgency	Sometimes (5–29%)
Loss of bladder control	Not recorded
Urinary bladder sphincter dysfunction	Not recorded

Abnormality of the digestive system

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

Abnormality of the ear

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

Abnormality of the immune system

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

Abnormality of the respiratory system

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

Constitutional symptom

Trait	How often it is seen
Impaired ability to dress oneself	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Growth delay	Rarely (1–4%)

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 ATL1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test