1
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000135)
|
Hypogonadism |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
4
|
(HPO:0000823)
|
Delayed puberty |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
6
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0000821)
|
Hypothyroidism |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
9
|
(HPO:0002121)
|
Absence seizures |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
10
|
(HPO:0002133)
|
Status epilepticus |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
11
|
(HPO:0011097)
|
Epileptic spasms |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
12
|
(HPO:0011147)
|
Typical absence seizures |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
14
|
(HPO:0003510)
|
Severe short stature |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
16
|
(HPO:0000278)
|
Retrognathia |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
17
|
(HPO:0000347)
|
Micrognathia |
Very frequent [Orphanet]
|
|
|
|
426 / 7739
|
18
|
(HPO:0000842)
|
Hyperinsulinemia |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
19
|
(HPO:0000678)
|
Dental crowding |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
20
|
(HPO:0000706)
|
Unerupted tooth |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
21
|
(HPO:0011079)
|
Impacted tooth |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
22
|
(HPO:0100651)
|
Type I diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
23
|
(HPO:0001251)
|
Ataxia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
413 / 7739
|
24
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
327 / 7739
|
25
|
(HPO:0002141)
|
Gait imbalance |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
26
|
(HPO:0002311)
|
Incoordination |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
27
|
(HPO:0002321)
|
Vertigo |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
28
|
(HPO:0009467)
|
Radial deviation of the 2nd finger |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
29
|
(HPO:0010557)
|
Overlapping fingers |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
30
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
31
|
(HPO:0008221)
|
Adrenal hyperplasia |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
32
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [Orphanet]
|
|
|
|
1089 / 7739
|
33
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [Orphanet]
|
|
|
|
853 / 7739
|
34
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
35
|
(HPO:0001328)
|
Specific learning disability |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
36
|
(HPO:0000828)
|
Abnormality of the parathyroid gland |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
37
|
(HPO:0000340)
|
Sloping forehead |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
38
|
(HPO:0000137)
|
Abnormality of the ovary |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
39
|
(HPO:0000138)
|
Ovarian cyst |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
25 / 7739
|
40
|
(HPO:0000147)
|
Polycystic ovaries |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
41
|
(HPO:0008675)
|
Enlarged polycystic ovaries |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
14 / 7739
|
42
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
43
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
44
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
45
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
46
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
47
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
48
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
49
|
(HPO:0000855)
|
Insulin resistance |
|
|
|
|
32 / 7739
|
50
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
51
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
52
|
(HPO:0001322)
|
Brain very small |
|
|
|
|
2 / 7739
|
53
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
54
|
(HPO:0001578)
|
Hypercortisolism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
55
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
56
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
57
|
(HPO:0004097)
|
Deviation of finger |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
58
|
(HPO:0009465)
|
Ulnar deviation of finger |
|
|
|
|
48 / 7739
|
59
|
(HPO:0006872)
|
Cerebral hypoplasia |
|
|
|
|
7 / 7739
|
60
|
(HPO:0008193)
|
Primary gonadal insufficiency |
|
|
|
|
7 / 7739
|
61
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
62
|
(OMIM)
|
Large |
|
|
|
|
2 / 7739
|
63
|
(OMIM)
|
Narrow |
|
|
|
|
3 / 7739
|
64
|
(OMIM)
|
Small |
|
|
|
|
3 / 7739
|
65
|
(OMIM)
|
Elevated plasma TSH, PTH, LH, FSH, ACTH, glucagon, and insulin |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Receding |
|
|
|
|
2 / 7739
|
67
|
(OMIM)
|
Dwarfism, 'low birth weight' type |
|
|
|
|
1 / 7739
|