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X-linked Opitz G/BBB syndrome
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
X-linked non-syndromic intellectual deficit
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Huntington disease
Juvenile Huntington disease
Microcephaly - seizures - developmental delay
Synonym(s):
- X-linked Opitz BBB/G syndrome
- X-linked Opitz syndrome
- XLOS
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MID1 O15344300552
No signs/symptoms info available.