Hao-Fountain Syndrome (HAFOUS)

Alias:

Hafous

Intellectual Developmental Disorder with Impaired Speech, Behavioral Abnormalities, and Dysmorphic Facies

Hao-Fountain Syndrome Due to 16p13.2 Microdeletion

Hao-Fountain Syndrome Due to Usp7 Mutation

Chromosome 16p13.2 Deletion Syndrome

Hafous Due to Usp7 Mutation

Monosomy 16p13.2

Del(16)(p13.2)

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hao-Fountain Syndrome, also known as hafous, is related to fountain syndrome and attention deficit-hyperactivity disorder. An important gene associated with Hao-Fountain Syndrome is USP7 (Ubiquitin Specific Peptidase 7). Affiliated tissues include brain and skin, and related phenotypes are global developmental delay and delayed speech and language development

Related ID：

MALACARDS：HFN001

OMIM：616863

MESH：D065886