Syndromic X-Linked Intellectual Disability 17

Alias:

Alacrima, Achalasia, and Intellectual Disability Syndrome

Intellectual Disability-Alacrima-Achalasia Syndrome

X-Linked Mental Retardation with Alacrima and Achalasia

Mental Retardation, X-Linked, Syndromic 17

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Syndromic X-Linked Intellectual Disability 17, also known as alacrima, achalasia, and intellectual disability syndrome, is related to alacrima, achalasia, and impaired intellectual development syndrome and intellectual developmental disorder, x-linked, syndromic 17. An important gene associated with Syndromic X-Linked Intellectual Disability 17 is GMPPA (GDP-Mannose Pyrophosphorylase A). Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：SYN179