Details of Disease

General Information of Disease (ID: DISC5AVJ)

Disease Name Intellectual disability-hypotonic facies syndrome, X-linked, 1
Synonyms
X-linked hypogonadism gynecomastia intellectual disability; mental retardation-hypotonic facies syndrome, X-linked, 1; mental retradation, X-linked with Growth delay, deafness, microgenitalism; X-linked hypogonadism gynecomastia mental retardation; mental retardation, X-linked, with growth retardation, deafness, and microgenitalism; Chudley mental retardation syndrome; Smith Fineman Myers syndrome 1; SFM1; intellectual disability Smith Fineman Myers type; intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism; Chudley intellectual disability syndrome; intellectual disability-hypotonic facies syndrome X-linked, 1; Chudley syndrome 1; mental retardation Smith Fineman Myers type; JMS; mental retardation-hypotonic facies syndrome X-linked, 1; Juberg-Marsidi syndrome; Juberg Marsidi syndrome; Juberg-Marsidi mental retardation syndrome; intellectual disability-hypotonic facies syndrome, X-linked, type 1; X-linked intellectual disability-hypotonic face syndrome; mental retardation-hypotonic facies syndrome, X-linked, type 1; mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive; Carpenter-Waziri syndrome; Chudley-Lowry syndrome; SFMS; Holmes-Gang syndrome; Chudley Lowry Hoar syndrome; intellectual disability-hypotonic facies syndrome, X-linked, 1; MRXHF1; Chudley-Lowry-Hoar syndrome; XLMR-hypotonic facies syndrome; Smith-Fineman-Myers syndrome
Definition A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.
Disease Hierarchy
DISBS7R7: ATR-X-related syndrome
DISC5AVJ: Intellectual disability-hypotonic facies syndrome, X-linked, 1
Disease Identifiers
MONDO ID
MONDO_0010663
MESH ID
C537457
UMLS CUI
C4759781
OMIM ID
309580
MedGen ID
1676827

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
ATRX OT77RSQW Moderate X-linked [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.