Simpson-Golabi-Behmel Syndrome, Type 1 (SGBS1)

Alias:

Simpson-Golabi-Behmel Syndrome Type 1

Simpson-Golabi-Behmel Syndrome

Simpson Dysmorphia Syndrome

Golabi-Rosen Syndrome

Sgbs1

Dgsx

Sdys

Sgbs

X-Linked Dysplasia Gigantism Syndrome

Bulldog Syndrome

Dysplasia Gigantism Syndrome, X-Linked

Mental Retardation-Overgrowth Syndrome

Dysplasia Gigantism Syndrome X-Linked

Simpson-Golabi-Behmel Syndrome 1

Dgsx Golabi-Rosen Syndrome

Simpson Dysplasia Syndrome

Sara Angers Syndrome

Simpson Syndrome

Sgb Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Simpson-Golabi-Behmel Syndrome, Type 1, also known as simpson-golabi-behmel syndrome type 1, is related to sotos syndrome and simpson-golabi-behmel syndrome, type 2. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 1 is GPC3 (Glypican 3), and among its related pathways/superpathways are Olfactory Signaling Pathway and SARS-CoV-2 Infection. Affiliated tissues include adrenal gland and tongue, and related phenotypes are macrocephaly and macroglossia

Related ID：

MALACARDS：SMP007

OMIM：312870

MESH：C537340