Gen-Panel
Großwuchs, umfassende Diagnostik: ID299.01, 64 Gene
ABCC9,
AKT1,
AKT2,
AKT3,
ASPA,
ASXL2,
BRWD3,
CCND2,
CDKN1C,
CHD8,
CUL4B,
DICER1,
DIS3L2,
DNMT3A,
EED,
EZH2,
FBN1,
FIBP,
GFAP,
GLI3,
GPC3,
GPC4,
GRIA3,
H1-4,
HEPACAM,
HERC1,
HUWE1,
KIF7,
KPTN,
L1CAM,
MED12,
MLC1,
MPDZ,
MTOR,
NFIX,
NONO,
NPR2,
NSD1,
OFD1,
PDGFRB,
PHF21A,
PIGA,
PIK3CA,
PIK3R2,
PPP2R5C,
PPP2R5D,
PTCH1,
PTEN,
RAB39B,
RNF125,
RNF135,
SETD2,
SHANK3,
STRADA,
SUFU,
SUZ12,
SYN1,
TBC1D7,
TCF20,
TMEM94,
TRIP12,
UPF3B,
ZBTB20,
ZDHHC9
HPO Terms
Tall stature, Macrocephaly, Large head circumference, Hypertelorism, Prominent forehead, Macroglossia, Overgrowth, Large ears, Large mandible, Hypertrophy of lower limb, Hypertrophy of upper limb, Increased body weight, Large palm, Facial asymmetry, Macrodactyly, Growth hormone excess, Excessive growth hormone secretion, Large nose, Developmental delay
