Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:abbreviation |
gptkb:ADROMICFMS
|
| gptkbp:category |
genetic disorder
|
| gptkbp:firstDescribed |
2018
|
| gptkbp:fullName |
Acral Digital Reticulate Onychodystrophy Myopathy Intellectual disability Congenital Facial dysmorphism Microcephaly Skeletal anomalies syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
ADROMICFMS
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ADROMICFMS gene (provisional)
|
| gptkbp:OMIM |
618657
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
intellectual disability
microcephaly muscular dystrophy skeletal anomalies acral digital reticulate pigmentation congenital facial dysmorphism onychodystrophy |
| gptkbp:bfsParent |
gptkb:Yung_Beef
|
| gptkbp:bfsLayer |
6
|