Traits

Traits linked to BSCL2

BSCL2 lipid droplet biogenesis associated, seipin

The Human Phenotype Ontology links 115 traits to BSCL2, by body system: features seen in people with one of the gene's rare conditions.

BSCL2

Abnormality of the nervous system

Trait	How often it is seen
Babinski sign	Always
Chaddock reflex	Always
Decreased compound muscle action potential amplitude	Always
Decreased motor nerve conduction velocity	Always
Decreased touch sensation in extremities	Always
Impaired distal proprioception	Always
Increased reflexes	Always
Postural tremor	Always
Progressive brain disease	Always
Cognitive impairment	Very often (80–99%)
Progressive psychomotor deterioration	Very often (80–99%)
Abnormal pyramidal sign	Often (30–79%)
Ataxia	Often (30–79%)
Brisk reflexes	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epilepsy	Often (30–79%)
Impaired vibratory sensation	Often (30–79%)
Incoordination	Often (30–79%)
Jerking	Often (30–79%)
Motor polyneuropathy	Often (30–79%)
Tremor	Often (30–79%)
Unsteady walk	Often (30–79%)
Abnormal motor nerve conduction velocity	Sometimes (5–29%)
Caudate atrophy	Sometimes (5–29%)
Decreased sensation in extremities	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
Limb dystonia	Sometimes (5–29%)
Loss of brain cells	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Tetraparesis	Sometimes (5–29%)
Repeated seizures without recovery between them	Rarely (1–4%)
Abnormal gait	Not recorded
Dystonia	Not recorded
Encephalopathy	Not recorded
High pitched voice	Not recorded
Impaired vibration sensation in the lower limbs	Not recorded
Increased appetite	Not recorded
Intellectual disability, mild	Not recorded
Loss of developmental milestones	Not recorded
Loss of speech	Not recorded
Mental deterioration	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Always
Spastic paraplegia	Always
Weakness of outermost muscles	Always
Generalized lipodystrophy	Very often (80–99%)
Reduced intraabdominal adipose tissue	Very often (80–99%)
Cold-induced hand cramps	Often (30–79%)
First dorsal interossei muscle atrophy	Often (30–79%)
First dorsal interossei muscle weakness	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Spastic walk	Often (30–79%)
Ankle weakness	Sometimes (5–29%)
Knee pain	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Advanced bone age	Not recorded
Cystic angiomatosis of bone	Not recorded
Distal lower limb amyotrophy	Not recorded
Frequent falls	Not recorded
Generalized muscular appearance from birth	Not recorded
Inability to make and keep healthy fat tissue	Not recorded
Lower limb spasticity	Not recorded
Reduced intrathoracic adipose tissue	Not recorded

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Always
Split hand	Always
Abnormal foot muscles	Often (30–79%)
Decreased arm strength	Often (30–79%)
Distal lower limb muscle weakness	Often (30–79%)
Foot drop	Often (30–79%)
Hand muscle degeneration	Often (30–79%)
Thenar muscle atrophy	Often (30–79%)
Thenar muscle weakness	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Hammertoe	Sometimes (5–29%)
Hand muscle weakness	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Large hands	Not recorded
Long foot	Not recorded
Lower limb muscle weakness	Not recorded

Laboratory abnormality

Trait	How often it is seen
Body fails to respond to insulin	Very often (80–99%)
Hyperinsulinemia	Very often (80–99%)
Fatty infiltration of liver	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Noninsulin-dependent diabetes	Often (30–79%)
High liver enzymes	Not recorded
Insulin-resistant diabetes mellitus at puberty	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Decreased fertility	Not recorded
Decreased fertility in females	Not recorded
Enlarged clitoris	Not recorded
Enlargement of the labia	Not recorded
Kidney stone	Not recorded
Polycystic ovaries	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Acute pancreatic inflammation	Not recorded
Prominent belly button	Not recorded
Umbilical hernia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)
Enlarged and thickened heart muscle	Not recorded
Increased spleen size	Not recorded
Ventricular septal hypertrophy	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Always
Reduced fat tissue below the skin	Always
Excessive hairiness over body	Sometimes (5–29%)
Excessive hairiness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Often (30–79%)
Big lower jaw	Not recorded
Triangular face	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated hemoglobin A1c	Always

Abnormality of the ear

Trait	How often it is seen
Large ears	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum leptin	Not recorded

Abnormality of the respiratory system

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

Constitutional symptom

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

Growth abnormality

Trait	How often it is seen
Tall stature	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 BSCL2 and how often each is seen. Find out more at hpo.jax.org.

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