Details of Disease | DrugMAP

General Information of Disease (ID: DISDRNZ2)

Disease Name	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Synonyms	epilepsy, hearing loss, and intellectual disability syndrome; epilepsy, hearing loss, and mental retardation syndrome; EHLMRS; microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
Disease Hierarchy	DISB52BH: Eye disorder DISYKSRF: Genetic disease DISDRNZ2: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Disease Identifiers	MONDO ID MONDO_0014698 UMLS CUI C4225276 OMIM ID 616577 MedGen ID 895574 Orphanet ID 457351 SNOMED CT ID 1254651003

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
AFG2A	OTPZKWN7	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20.