Keyphrases
Newly Diagnosed
100%
Gain-of-function mutation
100%
Ocular Manifestations
100%
CLCN6
100%
Proband
50%
Optic Nerve
50%
Neurodegeneration
25%
Visual Acuity
25%
Membrane Protein
25%
Voltage Dependence
25%
Lysosomal Storage Disease
25%
Protein Family
25%
Ion Transport
25%
Endosomal
25%
Late Endosome
25%
Nerve
25%
Vision Loss
25%
Endosome
25%
Chloride Channel
25%
Cell Volume Regulation
25%
Acidification
25%
Intracellular Organelles
25%
Monoallelic
25%
Antiporter
25%
Phospholipid Membrane
25%
Chloride Channel Protein
25%
New Disease
25%
Ophthalmic Findings
25%
Significant Developmental Delay
25%
Medicine and Dentistry
Gain of Function Mutation
100%
Diseases
100%
Optic Nerve
66%
Endosome
66%
Neurodegeneration
33%
Visual Acuity
33%
Visual Impairment
33%
Protein Family
33%
Lysosomal Storage Disease
33%
Channel Protein
33%
Developmental Delay
33%
Agents Acting on the Eye
33%
Chloride Channel
33%
Cell Volume Regulation
33%
Ion Transport
33%
Antiporter
33%
Voltage Gated Chloride Channel
33%
Phospholipid Membrane
33%
Biochemistry, Genetics and Molecular Biology
Proband
100%
Gain of Function Mutation
100%
Chloride Channel
100%
Electric Potential
50%
Protein Family
50%
Cell Volume
50%
Ion Transport
50%
Antiporter
50%
Channel Protein
50%
Phospholipid Membrane
50%
Visual Acuity
50%
Neuroscience
Optic Nerve
100%
Gain of Function Mutation
100%
Neurodegeneration
50%
Ion Transport
50%
Protein Family
50%
Chloride Channel
50%
Antiporter
50%
Phospholipid Membrane
50%
Voltage Gated Chloride Channel
50%
Cell Volume Regulation
50%