Keyphrases
Seizure
100%
Homozygous Deletion
100%
Deletion mutation
100%
Hoarseness
100%
Skin Involvement
100%
Lipoid Proteinosis
100%
Extracellular Matrix Protein 1 Gene
100%
Tongue
50%
Infiltration
50%
Autosomal Recessive
25%
Neurological Symptoms
25%
Temporal Lobe
25%
Epilepsy
25%
Early Infancy
25%
Scar
25%
Alternative Splicing
25%
Papules
25%
Genodermatosis
25%
Extracellular Matrix Protein 1 (ECM1)
25%
First Year of Life
25%
Mucosa
25%
Cutaneous Findings
25%
1q21
25%
Neurological Signs
25%
Vocal Cords
25%
Neuropsychological Abnormalities
25%
Cutaneous Manifestations
25%
Temporal Hippocampus
25%
Mucous Membrane
25%
Reduplication
25%
Diagnostic Signs
25%
Hyaline Material
25%
Frenulum
25%
Eyelid Margin
25%
Hoarseness of Voice
25%
Skin mucous
25%
Medicine and Dentistry
Epileptic Seizure
100%
Synapsin I
100%
Extracellular Matrix Protein
100%
Hoarseness
100%
Lipoid Proteinosis
100%
Tongue
50%
Neurologic Disease
50%
Histopathology
25%
Hippocampus
25%
Scar Formation
25%
Clinical Finding
25%
Autosomal Recessive Inheritance
25%
Vocal Folds
25%
Infancy
25%
Physical Disease by Body Function
25%
Temporal Lobe
25%
Papule
25%
Genodermatosis
25%
Mucosa
25%
Alternative RNA Splicing
25%
Hyaline
25%
Diseases
25%