Details of Disease | DrugMAP

General Information of Disease (ID: DIS468TF)

Disease Name	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Synonyms	mental retardation, autosomal recessive 55; MRT55; neurodevelopmental disorder with microcephaly and gray sclerae; neurodevelopmental disorder with microcephaly and grey sclerae; intellectual disability, autosomal recessive 55; intellectual disability, autosomal recessive type 55; mental retardation, autosomal recessive type 55
Disease Hierarchy	DISQ205R: Hyperpigmentation of the skin DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISSCALK: Hereditary skin disorder DIS468TF: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0014886 UMLS CUI C4310745 OMIM ID 617051 MedGen ID 934712 Orphanet ID 488627

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
PUS3	OT6WG6M2	Strong	Autosomal recessive	[1]
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References

1	A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Hum Genet. 2016 Jul;135(7):707-13. doi: 10.1007/s00439-016-1665-7. Epub 2016 Apr 7.