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bn:00707537n
Noun Concept
Categories: Syndromes affecting the heart, Deficiencies of intracellular signaling peptides and proteins
EN
Coffin-Lowry syndrome  Coffin–Lowry syndrome  CLS  COFFIN-LOWRY SYNDROME; CLS  Coffin syndrome
EN
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. Wikipedia
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Sources
EN
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. Wikipedia
Genetic disorder that is X-linked dominant Wikidata
IS A
rare disease
scoliosis
X-linked intellectual disability
GENETIC ASSOCIATION
RPS6KA3
HEALTH SPECIALTY
medical genetics
Wikipedia
EN
Coffin–Lowry syndrome
Wikidata
EN
Coffin-Lowry syndrome
Wikipedia Redirections
EN
Coffin-Lowry Syndrome
Wikidata Alias
EN
CLS, COFFIN-LOWRY SYNDROME, COFFIN-LOWRY SYNDROME; CLS, Coffin syndrome, Coffin syndrome 1, Dwarfism, lean spastic type, Lean spastic dwarfism, Mental retardation with osteocartilaginous abnormalities, Coffin-Lowry syndrome (disorder)

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