Details of Disease | DrugMAP

General Information of Disease (ID: DISCZE28)

Disease Name	Developmental and speech delay due to SOX5 deficiency
Definition	A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCZE28: Developmental and speech delay due to SOX5 deficiency
Disease Identifiers	MONDO ID MONDO_0017782 UMLS CUI C4749915 MedGen ID 1660895 Orphanet ID 313892 SNOMED CT ID 771472009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SOX5	TTXHSZK	Supportive	Autosomal dominant	[1]
SOX5	TTXHSZK	Definitive	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX5	OTEVJHMZ	Supportive	Autosomal dominant	[1]
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References

1	Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.