Details of Disease | DrugMAP

General Information of Disease (ID: DIS1OMWG)

Disease Name	Pilarowski-Bjornsson syndrome
Synonyms	developmental delay and speech apraxia with or without seizures; PILBOS; Pilarowski-Bjornsson syndrome
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS1OMWG: Pilarowski-Bjornsson syndrome
Disease Identifiers	MONDO ID MONDO_0060568 UMLS CUI C4540131 OMIM ID 617682 MedGen ID 1619150 Orphanet ID 529965 SNOMED CT ID 1217382002

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
CHD1	OT9R9G0H	Supportive	Autosomal dominant	[1]
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References

1	Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2.