Desanto-Shinawi Syndrome (DESSH)

Alias:

Desanto-Shinawi Syndrome Due to Wac Point Mutation

Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to 10p11.21p12.31 Microdeletion

Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to Wac Point Mutation

Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome

Desanto-Shinawi Syndrome Due to 10p11.21p12.31 Microdeletion

Dessh

Developmental Delay, Behavioral Abnormalities, Facial Dysmorphism, and Ocular Abnormalities

Chromosome 10p12-P11 Deletion Syndrome

10p12p11 Microdeletion Syndrome

Deletion 10p11.21p12.31

Monosomy 10p11.21p12.31

Del(10)(p11.21p12.31)

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Desanto-Shinawi Syndrome, also known as facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and hypotonia. An important gene associated with Desanto-Shinawi Syndrome is WAC (WW Domain Containing Adaptor With Coiled-Coil). Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：DSN002

OMIM：616708

MESH：D000015