and growth restriction
KRAS
|
906
|
|
Epidermolysis bullosa simplex
|
KRTS 5
|
888
|
|
Epilepsy with mental retardation in females
|
PCDH19
|
907
,
908
|
|
Facial infiltrating lipomatosis
|
PIK3CA
|
909
|
|
Familial polymicrogyria
|
TUBA1A
|
910
|
|
Fanconi anemia
|
FANCD2
|
911
|
|
Fascioscapular humeral muscular dystrophy
|
D4Z4
|
888
|
|
Freeman–Sheldon syndrome
|
TNNI2
|
912
|
|
Gardner syndrome
|
APC
|
913
|
|
Hemi‐megalencephaly
|
PIK3CA
|
914
|
|
Hemophilia A and B
|
F8 and F9
|
888
|
|
Hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension
|
ACVRL1
|
915
|
|
Hereditary nonpolyposis colon cancer (Lynch syndrome)
|
MLH1
|
916
|
|
Hereditary spastic paraplegia
|
SPG4
|
888
|
|
Hunter syndrome
|
IDS
|
888
|
|
Hyper‐IgE syndrome
|
STAT3
|
917
|
|
Hypocalcemia
|
CASR
|
888
|
|
Infantile spinal muscular atrophy
|
SMN1
|
888
|
|
Intellectual disability
|
GATAD
2
B
|
918
|
|
Isolated growth hormone deficiency
|
GH1
|
919
|
|
Juvenile myelomonocytic leukemia
|
NRAS
|
920
|
|
Keratinocyte epidermal nevi
|
RAS
|
921
|
|
Lesch–Nyhan syndrome
|
HPRT1
|
888
|
|
Li–Fraumeni syndrome
|
TP53
|
922
|
|
Loeys–Dietz syndrome
|
TGFBR2
|
888
|
|
Lone atrial fibrillation
|
Cx43
|
923
|
|
Maffuci syndrome
|
IDHI
|
924
|
|
Marfan syndrome
|
FBN1
|
888
|
|
McCune–Albright syndrome
|
GNAS1
|
888
|
|
Metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria
|
IDH1
|
925
|
|
MYH9 disorders
|
MYH9
|
888
|
|
Myoclonic epilepsy
|
SCN1A
|
888
|
|
Myofibrillar myopathy
|
BAG3
|
926
|
|
Myotonic dystrophy type 2
|
ZNF9
|
927
|
|
Nail–patella syndrome
|
LMX1B
|
928
|
|
Neonatal diabetes
|
KCNJ11
|
888
|
|
Neurofibromatosis type 1 (generalized and segmental)
|
NF1
|
929
|
