|
1
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0008182)
|
Adrenocortical hypoplasia |
|
|
|
|
4 / 7739
|
|
3
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
10
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
18
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
19
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
20
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
21
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
22
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
23
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
24
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
25
|
(HPO:0001993)
|
Ketoacidosis |
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0001999)
|
Abnormal facial shape |
occasional [HPO:skoehler]
|
|
|
|
169 / 7739
|
|
27
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
28
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
29
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
30
|
(HPO:0002572)
|
Episodic vomiting |
|
|
|
|
12 / 7739
|
|
31
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
32
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
33
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
34
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
35
|
(OMIM)
|
[DEL]Mild facial dysmorphism may occur |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
'Hourglass' midface |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Wide, flattened earlobes |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Rounded palpebral fissures |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Cryptorchidism may occur |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Duchenne muscular dystrophy (DMD, 310200) in 'complex' form |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Mental retardation may occur |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Lethargy or loss of consciousness during illness or fasting |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Adrenal insufficiency, congenital (300200) in 'complex' form |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Increased urinary glycerol |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Increased serum glycerol |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Decreased glycerol kinase activity |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Pseudohypertriglyceridemia in adult form |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
49
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
50
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
51
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
52
|
(HPO:0000028)
|
Cryptorchidism |
occasional [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
53
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
54
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|