Grebe syndrome
Symptoms of Grebe syndrome
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of connective tissue
- Flexion contracture
- Abnormality of limbs
- Abnormality of the fibula
- Abnormality of the metacarpal bones
- Abnormality of the tibia
- Absent patella
- Acromesomelia
- Adactyly
- Aplasia/Hypoplasia involving the metacarpal bones ...
Genetics of Grebe syndrome
Modes of inheritance:
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
...Source: GTR (NCBI/NIH)1
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... More on Genetics of Grebe syndrome »
Names and Terminology
Synonyms:
ACHONDROGENESIS, TYPE II, FORMERLY ; Achondrogenesis type II (formerly) ; Acromesomelic dysplasia, Grebe type ; Brazilian achondrogenesis ; Chondrodysplasia, Grebe Type ; Grebe dysplasia
...Source: GTR (NCBI/NIH)2
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... More General Information on Grebe syndrome »
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References
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0265260/
- ibid.
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