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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Carpenter-Waziri syndrome
Short rib-polydactyly syndrome, Majewski type

ATRX DYNC2H1
NEK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATRX
(0.63)
NEK1



Citations in the biomedical literature:


Carpenter-Waziri syndrome
ATRX
Short rib-polydactyly syndrome, Majewski type
DYNC2H1 NEK1



Carpenter-Waziri syndrome
Short rib-polydactyly syndrome, Majewski type

Synonym(s):
(no synonyms)

Synonym(s):
- Short rib-polydactyly syndrome type 2

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

No signs/symptoms info available.