Details of Disease | DrugMAP

General Information of Disease (ID: DISPBI96)

Disease Name	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Synonyms	microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations; microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations; BEAULIEU-BOYCOTT-Innes syndrome; BBIS; Beaulieu-Boycott-Innes syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISPBI96: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0013362 UMLS CUI C3150939 OMIM ID 613680 MedGen ID 462289 Orphanet ID 363444 SNOMED CT ID 773554009

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
THOC6	OT8TEBYZ	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.