Traits

Traits linked to LAMA1

laminin subunit alpha 1

The Human Phenotype Ontology links 28 traits to LAMA1, 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
Ataxia	Very often (80–99%)
Cerebellar cyst	Very often (80–99%)
Cerebellar dysplasia	Very often (80–99%)
Cognitive impairment	Very often (80–99%)
Dilated fourth ventricle	Very often (80–99%)
IQ between 34 and 49	Very often (80–99%)
Abnormal shape of brainstem	Often (30–79%)
Elongated superior cerebellar peduncle	Often (30–79%)
Global developmental delay	Often (30–79%)
Inferior cerebellar vermis hypoplasia	Often (30–79%)
Head titubation	Sometimes (5–29%)
Delayed speech and language development	Rarely (1–4%)
Abnormal periventricular white matter morphology	Not recorded
Cerebellar vermis hypoplasia	Not recorded
Gray matter heterotopia	Not recorded
Motor delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Often (30–79%)
Cross-eyed	Often (30–79%)
Lazy eye	Often (30–79%)
Oculomotor apraxia	Often (30–79%)
Retinal atrophy	Often (30–79%)
Breakdown of light-sensitive cells in back of eye	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Retinal thinning	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	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 LAMA1 and how often each is seen. Find out more at hpo.jax.org.

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