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Diseases
Genes (888)
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NSD1
Sotos Syndrome 1
Sotos Syndrome
5q35 Microduplication Syndrome
Weaver Syndrome
Nevo Syndrome
Overgrowth Syndrome
Deletion 5q35
Multiple Abnormalities
Beckwith-Wiedemann Syndrome
NFIX
Sotos Syndrome 1
Sotos Syndrome 2
Overgrowth Syndrome
Marshall–smith Syndrome
GPC3
Sotos Syndrome 1
Overgrowth Syndrome
Perlman Syndrome
Beckwith-Wiedemann Syndrome
Simpson-Golabi-Behmel Syndrome
Gorlin Syndrome
SETD2
Sotos Syndrome 1
Luscan-Lumish Syndrome
Overgrowth Syndrome
TBX5
Holt–oram Syndrome
Congenital Limb Deformities
ASL
Argininosuccinic Aciduria
DIS3L2
Perlman Syndrome
SHANK3
Monosomy 22q13.3
PMM2
Pmm2 Deficiency
FMR1
Fragile X Syndrome
Renpenning's Syndrome
SPTBN2
Spinocerebellar Ataxia 5
PTCH1
Gorlin Syndrome
SUFU
Gorlin Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
SIX1
Branchio-Oto-Renal Syndrome
RECQL4
Baller–gerold Syndrome
Multiple Abnormalities
EZH2
Weaver Syndrome
Overgrowth Syndrome
EYA1
Branchio-Oto-Renal Syndrome
TGDS
Catel–manzke Syndrome
Multiple Abnormalities
PIK3CA
Sotos Syndrome 1
Weaver Syndrome
Overgrowth Syndrome
Multiple Abnormalities
Beckwith-Wiedemann Syndrome
Fragile X Syndrome