3mc Syndrome 2 (3MC2)
Alias:
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia
Oculo-Skeletal-Abdominal Syndrome
Carnevale Syndrome
Osa Syndrome
3mc2
Carnevale Krajewska Fischetto Syndrome
Carnevale Syndrome, Formerly
3mc Syndrome, Type 2
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3mc Syndrome 2, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to 3mc syndrome and radioulnar synostosis, and has symptoms including torticollis An important gene associated with 3mc Syndrome 2 is COLEC11 (Collectin Subfamily Member 11), and among its related pathways/superpathways are Innate Immune System and Complement cascade. The drugs Fentanyl and Desflurane have been mentioned in the context of this disorder. Affiliated tissues include kidney and prostate, and related phenotypes are horseshoe kidney and hypospadias
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Basic Information
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MALACARDS
AR
Unknown
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7
24
24
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