Details of Disease

General Information of Disease (ID: DIS61WIN)

Disease Name Floating-Harbor syndrome
Synonyms
FLHS; FHS; short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes; Pelletier-Leisti syndrome; Floating Harbor Syndrome; floating-HARBOR syndrome; floating-Harbor syndrome
Definition Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Disease Hierarchy
DISYKSRF: Genetic disease
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DIS61WIN: Floating-Harbor syndrome
Disease Identifiers
MONDO ID
MONDO_0007621
MESH ID
C537062
UMLS CUI
C0729582
OMIM ID
136140
MedGen ID
152667
Orphanet ID
2044
SNOMED CT ID
312214005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SRCAP OT82P6CN Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.