Floating-Harbor syndrome
Findings
No curated finding names Floating-Harbor syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Definition from the Mondo Disease Ontology (MONDO:0007621), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
102 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.
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Atopic dermatitisHPOHP:0001047
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Expressive language delayHPOHP:0002474
- 13 of 13 reported patients
Show the remaining 90
- Underdeveloped nasal alaeHPOHP:0000430
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 12 of 13 reported patients
- Frequent (30% to 79% of cases)
- Wide mouthHPOHP:0000154
- 12 of 13 reported patients
- Frequent (30% to 79% of cases)
- Triangular faceHPOHP:0000325
- 11 of 12 reported patients
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- 12 of 14 reported patients
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
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.
- SRCAPHGNC:16974
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Floating-Harbor syndrome
- Also called
- Floating Harbor Syndrome