Intellectual Developmental Disorder, Autosomal Recessive 39 (MRT39)

Alias:

Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome

Mental Retardation, Autosomal Recessive 39

Mrt39

Autosomal Recessive Intellectual Developmental Disorder 39

Mental Retardation, Autosomal Recessive, Type 39

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Recessive 39, is also known as severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 39 is TTI2 (TELO2 Interacting Protein 2). Affiliated tissues include t cells and eye, and related phenotypes are global developmental delay and abnormal facial shape

Related ID：

MALACARDS：INT472

OMIM：615541

MESH：D008607