Intellectual Developmental Disorder, Autosomal Recessive 48 (MRT48)

Alias:

Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome

Mrt48

Autosomal Recessive Intellectual Developmental Disorder 48

Mental Retardation, Autosomal Recessive, Type 48

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Recessive 48, is also known as progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 48 is SLC6A17 (Solute Carrier Family 6 Member 17). Affiliated tissues include breast and brain, and related phenotypes are global developmental delay and macrotia

Related ID：

MALACARDS：INT545

OMIM：616269

MESH：D008607