1
|
(HPO:0000771)
|
Gynecomastia |
|
|
|
|
53 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
3
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
4
|
(HPO:0001528)
|
Hemihypertrophy |
|
|
|
|
13 / 7739
|
5
|
(HPO:0001956)
|
Truncal obesity |
|
|
|
|
39 / 7739
|
6
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
|
|
22 / 7739
|
7
|
(OMIM)
|
Hemihypertrophy, left-sided |
|
|
|
|
1 / 7739
|
8
|
(OMIM)
|
Left-sided hemihypertrophy of face |
|
|
|
|
1 / 7739
|
9
|
(OMIM)
|
Reduced consciousness, hypoglycemia-related |
|
|
|
|
1 / 7739
|
10
|
(HPO:0002173)
|
Hypoglycemic seizures |
|
|
|
|
19 / 7739
|
11
|
(OMIM)
|
Hypoinsulinemic hypoglycemia |
|
|
|
|
1 / 7739
|
12
|
(OMIM)
|
Low serum levels of ketone bodies |
|
|
|
|
1 / 7739
|
13
|
(OMIM)
|
Low serum levels of branched-chain amino acids |
|
|
|
|
1 / 7739
|
14
|
(OMIM)
|
No elevation of free fatty acids |
|
|
|
|
1 / 7739
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|