Traits

Traits linked to SCYL2

SCY1 like pseudokinase 2

The Human Phenotype Ontology links 53 traits to SCYL2, by body system: features seen in people with one of the gene's rare conditions.

SCYL2

Abnormality of limbs

Trait	How often it is seen
Hand clenching	Always
Rocker bottom foot	Always
Ankle flexion contracture	Often (30–79%)
Decreased arm strength	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Inability to straighten knee	Often (30–79%)
Lower limb muscle weakness	Often (30–79%)
Wrist flexion contracture	Often (30–79%)
Acetabular dysplasia	Sometimes (5–29%)
Equinovarus deformity	Sometimes (5–29%)
Hip contracture	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
Decreased volume of lip	Always
Depressed nasal bridge	Always
Little lower jaw	Always
Narrow mouth	Always
Prominent forehead	Always
Abnormally small head	Very often (80–99%)
Short neck	Very often (80–99%)
Asymmetry of the posterior head	Sometimes (5–29%)
Myopathic facies	Sometimes (5–29%)
Scaphocephaly	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Always
Agenesis of corpus callosum	Always
Epilepsy	Always
Global developmental delay	Always
Frontal cortical atrophy	Often (30–79%)
Parietal cortical atrophy	Often (30–79%)
Brain imaging abnormality	Sometimes (5–29%)
Muscle twitch	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Flexed joint that cannot be straightened	Always
Involuntary muscle stiffness, contraction, or spasm	Always
EMG: chronic denervation signs	Very often (80–99%)
Muscle degeneration	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always
Less than 10 fetal movements in 12 hours	Always
Feet or buttocks of fetus positioned near opening of uterus	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always
Wide-set eyes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingerprints	Sometimes (5–29%)
Skin dimple	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always

Abnormality of the respiratory system

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

Laboratory abnormality

Trait	How often it is seen
Mildly elevated creatine kinase	Often (30–79%)

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 SCYL2 and how often each is seen. Find out more at hpo.jax.org.

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