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

Simpson-Golabi-Behmel Syndrome, Type 1(来自ICD-11)
别称:
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
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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
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参考文献
MALACARDS
XL
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Antenatal
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13
86
68

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