Details of Disease | DrugMAP

General Information of Disease (ID: DIS9GQYY)

Disease Name	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Definition	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS9GQYY: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Disease Identifiers	MONDO ID MONDO_0018569 UMLS CUI C5681178 MedGen ID 1812501 Orphanet ID 435938 SNOMED CT ID 1197588008

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
RPL10	OTBHOZGC	Supportive	X-linked	[1]
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References

1	A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics. 2014 Oct;198(2):723-33. doi: 10.1534/genetics.114.168211.