Terminal osseous dysplasia - pigmentary defects |
Periventricular nodular heterotopia |
FLNA | ARFGEF2 | |||
ERMARD | ||||
FLNA |
COMMON GENES |
FLNA |
Citations in the biomedical literature:
Terminal osseous dysplasia - pigmentary defects |
Periventricular nodular heterotopia |
||
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease | Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease | ||
Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
| 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: normal Type of inheritance: x-linked dominant | Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal recessive | ||
External references: 1 OMIM reference -
No MeSH references | External references: 5 OMIM references - 1 MeSH reference: D054091 | ||