chromosome 17q11.2 deletion syndrome, 1.4Mb
Findings
No curated finding names chromosome 17q11.2 deletion syndrome, 1.4Mb yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
Definition from the Mondo Disease Ontology (MONDO:0013357), read 2026-09-29. CC BY 4.0.
Features
132 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Axillary frecklingHPOHP:0000997
- 28 of 29 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 27 of 29 reported patients
- Cognitive impairmentHPOHP:0100543
- 27 of 29 reported patients
- Lisch nodulesHPOHP:0009737
- 27 of 29 reported patients
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 25 of 29 reported patients
- Very rare (1% to 4% of cases)
- NeurofibromaHPOHP:0001067
- 25 of 29 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Occasional (5% to 29% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Very rare (1% to 4% of cases)
- FrecklingHPOHP:0001480
- Very frequent (80% to 99% of cases)
- Large for gestational ageHPOHP:0001520
- Very frequent (80% to 99% of cases)
Show the remaining 120
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- 9 of 23 reported patients
- Very frequent (80% to 99% of cases)
- Multiple cafe-au-lait spotsHPOHP:0007565
- Very frequent (80% to 99% of cases)
- OvergrowthHPOHP:0001548
- Very frequent (80% to 99% of cases)
- Reduced social responsivenessHPOHP:0012760
- Very frequent (80% to 99% of cases)
- Short attention spanHPOHP:0000736
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNF135HGNC:21158
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
13 names
Resolves to: chromosome 17q11.2 deletion syndrome, 1.4Mb
- Also called
- 17q11 microdeletion syndromechromosome 17q11.2 deletion syndromechromosome 17q11.2 deletion syndrome, 1.4-MBDel(17)(q11)macrocephaly, macrosomia, and facial dysmorphism syndromeMMFDmonosomy 17q11neurofibromatosis 1 microdeletion syndromeneurofibromatosis type 1 microdeletion syndromeNF1 microdeletion syndromeovergrowth-macrocephaly-facial dysmorphism syndromeRNF135-related overgrowth syndromeVan Asperen syndrome