Details of Disease | DrugMAP

General Information of Disease (ID: DIS79C5V)

Disease Name	Al Kaissi syndrome
Synonyms	ALKAS; AL KAISSI syndrome; Growth retardation, spine malformation, dysmorphic facies, and developmental delay
Definition	Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DIS79C5V: Al Kaissi syndrome
Disease Identifiers	MONDO ID MONDO_0044324 UMLS CUI C4540156 OMIM ID 617694 MedGen ID 1611968

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
CDK10	OTKP7TTR	Strong	Autosomal recessive	[1]
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References

1	Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.