Coffin-Lowry Syndrome

MeSH 搜索器

Coffin-Lowry Syndrome

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

推出的年份: 2003

树号: C10.597.606.360.455.249, C16.320.322.500.249, C16.320.400.525.249

MeSH 单一 ID: D038921

进入的组:

Coffin Lowry Syndrome
Syndrome, Coffin-Lowry
Coffin Syndrome
Syndrome, Coffin
Mental Retardation with Osteocartilaginous Abnormalities

早前的内容:

Mental Retardation/genetics (1975-2002)

All MeSH Categories
- Diseases Category
  - Nervous System Diseases [C10]
    - Neurologic Manifestations [C10.597]
      - Neurobehavioral Manifestations [C10.597.606]
        
        Intellectual Disability [C10.597.606.360]
        
        Mental Retardation, X-Linked [C10.597.606.360.455]
        
        Adrenoleukodystrophy [C10.597.606.360.455.124]
        
        Coffin-Lowry Syndrome [C10.597.606.360.455.249]
        
        Fragile X Syndrome [C10.597.606.360.455.500]
        
        Glycogen Storage Disease Type IIb [C10.597.606.360.455.562]
        
        Lesch-Nyhan Syndrome [C10.597.606.360.455.625]
        
        Menkes Kinky Hair Syndrome [C10.597.606.360.455.687]
        
        Mucopolysaccharidosis II [C10.597.606.360.455.750]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.597.606.360.455.875]
        
        Rett Syndrome [C10.597.606.360.455.937]

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Genetic Diseases, Inborn [C16.320]
      - Genetic Diseases, X-Linked [C16.320.322]
        
        Mental Retardation, X-Linked [C16.320.322.500]
        
        Adrenoleukodystrophy [C16.320.322.500.124]
        
        Classical Lissencephalies and Subcortical Band Heterotopias [C16.320.322.500.186]
        
        Coffin-Lowry Syndrome [C16.320.322.500.249]
        
        Fragile X Syndrome [C16.320.322.500.500]
        
        Lesch-Nyhan Syndrome [C16.320.322.500.625]
        
        Menkes Kinky Hair Syndrome [C16.320.322.500.687]
        
        Mucopolysaccharidosis II [C16.320.322.500.750]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.322.500.875]
        
        Rett Syndrome [C16.320.322.500.937]

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Genetic Diseases, Inborn [C16.320]
      - Heredodegenerative Disorders, Nervous System [C16.320.400]
        
        Mental Retardation, X-Linked [C16.320.400.525]
        
        Adrenoleukodystrophy [C16.320.400.525.124]
        
        Coffin-Lowry Syndrome [C16.320.400.525.249]
        
        Fragile X Syndrome [C16.320.400.525.500]
        
        Lesch-Nyhan Syndrome [C16.320.400.525.625]
        
        Menkes Kinky Hair Syndrome [C16.320.400.525.687]
        
        Mucopolysaccharidosis II [C16.320.400.525.750]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.400.525.875]
        
        Rett Syndrome [C16.320.400.525.937]

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MeSH 搜索器

Coffin-Lowry Syndrome

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