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Carpenter-Waziri syndrome
1 OMIM reference -
1 associated gene
32 connected diseases
No signs/symptoms info
Disease Type of connection
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Chudley-Lowry-Hoar syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Hereditary breast and ovarian cancer syndrome
Cornelia de Lange syndrome
Familial congenital mirror movements
Weaver syndrome
Ataxia-telangiectasia-like disorder
Nijmegen breakage syndrome-like disorder
Familial prostate cancer
Nijmegen breakage syndrome
Bloom syndrome
Acute promyelocytic leukemia
2q37 microdeletion syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Li-Fraumeni syndrome
Monomelic amyotrophy
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Short rib-polydactyly syndrome, Majewski type
Werner syndrome
Catecholaminergic polymorphic ventricular tachycardia
Dentatorubral pallidoluysian atrophy
(no synonyms)

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

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ATRX P46100300032
No signs/symptoms info available.