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208150
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PENA-SHOKEIR SYNDROME, TYPE I
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Chemical Phenomena
Biochemical Phenomena
Molecular Structure
Base Sequence
Regulatory Sequences, Nucleic Acid
Regulatory Sequences, Ribonucleic Acid
RNA Splice Sites
Molecular Conformation
Protein Conformation
Genetic Phenomena
Consanguinity
Genetic Processes
Breeding
Inbreeding
Consanguinity
Mutagenesis
Amino Acid Substitution
Sequence Deletion
Genetic Structures
Base Sequence
Regulatory Sequences, Nucleic Acid
Regulatory Sequences, Ribonucleic Acid
RNA Splice Sites
Chromosomes
Chromosomes, Mammalian
Chromosomes, Human
Chromosomes, Human, 16-18
Chromosomes, Human, Pair 18
Genome
Genome Components
Genes
Gene Components
RNA Splice Sites
Genes, Dominant
Genes, Lethal
Genes, Recessive
Genetic Variation
Genetic Heterogeneity
Mutation
Chromosome Aberrations
Aneuploidy
Trisomy
Chromosome Duplication
Trisomy
Sequence Deletion
Genotype
Inheritance Patterns
Genes, Dominant
Genes, Recessive
Phenotype
Ploidies
Aneuploidy
Trisomy
Physiological Phenomena
Physiological Processes
Growth and Development
Morphogenesis
Embryonic and Fetal Development
Fetal Development
Fetal Movement
Gestational Age
Organogenesis
Musculoskeletal Development
Muscle Development
Movement
Reproductive and Urinary Physiological Phenomena
Reproductive Physiological Phenomena
Gestational Age
Pregnancy Trimesters
Pregnancy Trimester, First
Reproductive Physiological Processes
Reproduction
Embryonic and Fetal Development
Fetal Development
Fetal Movement
Pregnancy
Musculoskeletal and Neural Physiological Phenomena
Musculoskeletal Physiological Phenomena
Musculoskeletal Physiological Processes
Movement
Musculoskeletal Development
Muscle Development
Immune System Phenomena
Antibody Specificity
Mathematical Concepts
Probability
Risk
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