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Jawad syndrome
1 OMIM reference -
1 associated gene
33 connected diseases
No signs/symptoms info
Disease Type of connection
Seckel syndrome
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Mantle cell lymphoma
Nijmegen breakage syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Ataxia-telangiectasia-like disorder
Dedifferentiated liposarcoma
Familial retinal arterial macroaneurysm
Fanconi anemia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
LEOPARD syndrome
Nijmegen breakage syndrome-like disorder
Noonan syndrome
Pancytopenia due to IKZF1 mutations
Pilocytic astrocytoma
Precursor B-cell acute lymphoblastic leukemia
Well-differentiated liposarcoma
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Young adult-onset Parkinsonism
Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonym(s):
(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: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RBBP8 Q99708604124
No signs/symptoms info available.