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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy

LTBP4 DMD
LTBP4


COMMON
GENES
LTBP4



Citations in the biomedical literature:


Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
LTBP4
Duchenne muscular dystrophy
DMD



Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy

Synonym(s):
- Urban-Rifkin-Davis syndrome

Synonym(s):
- DMD
- Severe dystrophinopathy, Duchenne type

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020388

No signs/symptoms info available.