Statements (103)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:causedBy |
deletion of NF1 gene
microdeletion of 17q11.2 region |
| gptkbp:containsGene |
gptkb:NF1
gptkb:ATAD5 gptkb:COPRS gptkb:CRLF3 gptkb:EVI2A gptkb:EVI2B gptkb:RAB11FIP4 gptkb:RNF135 gptkb:OMG gptkb:UROD gptkb:SUZ12 MIR193A MIR365B MIR4733 MIR4734 MIR4735 MIR4736 MIR4737 MIR4738 MIR4739 MIR4740 MIR4741 MIR4742 MIR4743 MIR4744 MIR4745 MIR4746 MIR4747 MIR4748 MIR4749 MIR4750 MIR4751 MIR4752 MIR4753 MIR4754 MIR4755 MIR4756 MIR4757 MIR4758 MIR4759 MIR4760 MIR4761 MIR4762 MIR4763 MIR4764 MIR4765 MIR4766 MIR4767 MIR4768 MIR4769 MIR4770 MIR4771 MIR4772 MIR4773 MIR4774 MIR4775 MIR4776 MIR4777 MIR4778 MIR4779 MIR4780 MIR4781 MIR4782 MIR4783 MIR4784 MIR4785 MIR4786 MIR4787 MIR4788 MIR4789 MIR4790 MIR4791 MIR4792 MIR4793 MIR4794 MIR4795 MIR4796 MIR4797 MIR4798 MIR4799 MIR4800 |
| gptkbp:hasOrphanetID |
ORPHA:96365
|
| https://www.w3.org/2000/01/rdf-schema#label |
NF1 microdeletion syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
613675
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:neurofibromatosis_type_1
|
| gptkbp:symptom |
intellectual disability
learning disabilities seizures café-au-lait spots developmental delay macrocephaly overgrowth neurofibromas cardiac defects dysmorphic facial features |
| gptkbp:bfsParent |
gptkb:17q11.2
|
| gptkbp:bfsLayer |
7
|