Schinzel phocomelia syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:rare_disease
|
| gptkbp:alsoKnownAs |
Schinzel syndrome
|
| gptkbp:category |
gptkb:genetic_disorder
|
| gptkbp:characterizedBy |
phocomelia
genital anomalies facial anomalies |
| gptkbp:firstDescribed |
1979
Andreas Schinzel |
| gptkbp:hasNoCure |
true
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
276820
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
cryptorchidism
cleft lip cleft palate micrognathia ambiguous genitalia hypospadias limb reduction defects |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Al-Awadi/Raas-Rothschild/Schinzel_phocomelia_syndrome
|
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
Schinzel phocomelia syndrome
|