Kenny-Caffey Syndrome, Type 2 (KCS2)

Kenny-Caffey Syndrome, Type 2(来自ICD-11)
别称:
Kenny-Caffey Syndrome Type 2
Kenny Syndrome
Kcs2
Dwarfism with Cortical Thickening of Tubular Bones and Transient Hypocalcemia
Dwarfism, Cortical Thickening of Tubular Bones, and Transient Hypocalcemia
Autosomal Dominant Kenny-Caffey Syndrome
Kenny-Caffey Syndrome 2
Kenny-Caffey Syndrome
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Kenny-Caffey Syndrome, Type 2, also known as kenny-caffey syndrome type 2, is related to autosomal dominant kenny-caffey syndrome and kenny-caffey syndrome, type 1. An important gene associated with Kenny-Caffey Syndrome, Type 2 is FAM111A (FAM111 Trypsin Like Peptidase A). Affiliated tissues include bone and eye, and related phenotypes are short stature and hypocalcemia
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MALACARDS
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Unknown
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13
73
15

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