Atelosteogenesis type I |
Congenital brain dysgenesis due to glutamine synthetase deficiency |
FLNB | GLUL |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
FLNB | (0.63) | GLUL | |
Citations in the biomedical literature:
Atelosteogenesis type I |
Congenital brain dysgenesis due to glutamine synthetase deficiency |
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Synonym(s): - AO1- AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia | Synonym(s): - Inherited GS deficiency- Inherited glutamine synthetase deficiency | ||
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease | Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease | ||
Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
| Classification (ICD10): - Endocrine, nutritional and metabolic diseases -
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Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant | Epidemiological data: (no data available)
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External references: 1 OMIM reference -
1 MeSH reference: C535396 | External references: 1 OMIM reference - No MeSH references | ||