Keyphrases
Autosomal Recessive
100%
Autism Spectrum Disorder
100%
Limb-girdle muscular Dystrophy
100%
Neurodevelopmental Disorders
50%
Proximal muscle Weakness
50%
3-year-olds
25%
Intellectual Disability
25%
Cardiac Symptoms
25%
Young Males
25%
Missense Variants
25%
Atrophy
25%
Common Symptoms
25%
Muscular Dystrophy
25%
Developmental Delay
25%
Genetic Disease
25%
Calf muscle
25%
Respiratory Insufficiency
25%
Recessive Disorder
25%
Muscular Weakness
25%
Biallelic Variants
25%
Mobility Problems
25%
Muscle Pseudohypertrophy
25%
Medicine and Dentistry
Autosomal Recessive Inheritance
100%
Patient with Autism Spectrum Disorder
100%
Limb Girdle Muscular Dystrophy
100%
Muscle Weakness
75%
Subependymal Giant Cell Astrocytoma
50%
Respiratory Failure
25%
Weakness
25%
Genetic Disorder
25%
Muscular Dystrophy
25%
Developmental Delay
25%
Creatine Kinase
25%
Disease
25%
Diseases
25%
Intellectual and Developmental Disabilities
25%
Neurodevelopmental Disorder
25%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Subependymal Giant Cell Astrocytoma
100%
Missense
50%
Intellectual Disability
50%
Genetic Disorder
50%
Creatine Kinase
50%