Details of Disease | DrugMAP

General Information of Disease (ID: DIS8728Z)

Disease Name	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DIS1JG9A: Spondyloepiphyseal dysplasia DISOV08L: Central nervous system malformation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS8728Z: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Disease Identifiers	MONDO ID MONDO_0018724 UMLS CUI C5687848 MedGen ID 1811349 Orphanet ID 459070 SNOMED CT ID 1217228004

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 Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14.