Details of Disease | DrugMAP

General Information of Disease (ID: DIS9Q6VL)

Disease Name	TELO2-related intellectual disability-neurodevelopmental disorder
Synonyms	YHFS; you-Hoover-Fong syndrome
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS2BIP8: Congenital nervous system disorder DIS3LICD: Congenital limb malformation DISD715V: Hereditary neurological disease DISOV08L: Central nervous system malformation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS5E608: Partial monosomy of the long arm of chromosome 9 DIS9Q6VL: TELO2-related intellectual disability-neurodevelopmental disorder
Disease Identifiers	MONDO ID MONDO_0014848 UMLS CUI C4310778 OMIM ID 616954 MedGen ID 934745 Orphanet ID 488642 SNOMED CT ID 1172626003

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
TELO2	OT2YQ9L8	Definitive	Autosomal recessive	[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.