Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
[muestre todas las 7 rutas]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Término preferido
Cri-du-Chat Syndrome
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Tipo
-
mesh:Descriptor
Definición
- An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Concepto genérico
Etiquetas alternativas
- 5p Deletion Syndrome
- 5p Minus Syndrome
- 5p- Syndrome
- Cat Cry Syndrome
- Chromosome 5 Short Arm Deletion Syndrome
- Chromosome 5p Deletion Syndrome
- Chromosome 5p- Syndrome
- Crying Cat Syndrome
- Deletion of Short Arm of Chromosome 5 Syndrome
En otras lenguas
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francés
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Syndrome de délétion du bras court du chromosome 5
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Syndrome de délétion du chromosome 5p
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Syndrome de Lejeune
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Syndrome du cri du chat
URI
http://data.loterre.fr/ark:/67375/JVR-LS9LF2W0-C
Conceptos equivalentes
id.nlm.nih.gov
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