Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Alias:

Autosomal Recessive Intellectual Disability Due to Trappc9 Deficiency

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Medical Symptom

Gene & Mutation

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Disease Model

References Literature

Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome, is also known as autosomal recessive intellectual disability due to trappc9 deficiency. An important gene associated with Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome is TRAPPC9 (Trafficking Protein Particle Complex Subunit 9). Affiliated tissues include brain, and related phenotypes are hypotonia and global developmental delay

Related ID：

MALACARDS：INT298