Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
Macrocephaly-cutis marmorata telangiectatica congenita syndrome
|
| gptkbp:causedBy |
gptkb:genetic_disorder
|
| gptkbp:characterizedBy |
developmental delay
macrocephaly hemihyperplasia cutis marmorata telangiectatica congenita |
| gptkbp:firstDescribed |
1997
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:OMIM |
602501
|
| gptkbp:symptom |
overgrowth
vascular anomalies asymmetry of the body connective tissue dysplasia |
| gptkbp:bfsParent |
gptkb:macrocephaly-hemangioma_syndrome
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
MCM syndrome
|