1
|
(HPO:0001513)
|
Obesity |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
3
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
4
|
(HPO:0009800)
|
Maternal diabetes |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
5
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
6
|
(HPO:0000873)
|
Diabetes insipidus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
7
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
8
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
9
|
(HPO:0001331)
|
Absent septum pellucidum |
|
|
|
|
16 / 7739
|
10
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
12
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
13
|
(HPO:0100842)
|
Septo-optic dysplasia |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
14
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
15
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
17
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
18
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
19
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
20
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
21
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
22
|
(HPO:0002019)
|
Constipation |
Occasional [Orphanet]
|
|
|
|
194 / 7739
|
23
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
24
|
(HPO:0000958)
|
Dry skin |
Occasional [Orphanet]
|
|
|
|
152 / 7739
|
25
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
26
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
27
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
28
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
29
|
(HPO:0007766)
|
Optic disc hypoplasia |
|
|
|
|
7 / 7739
|
30
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
31
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
32
|
(HPO:0010627)
|
Anterior pituitary hypoplasia |
|
|
|
|
6 / 7739
|
33
|
(OMIM)
|
Hypoplastic optic disc |
|
|
|
|
3 / 7739
|
34
|
(OMIM)
|
Supernumerary digits |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Midline forebrain defects |
|
|
|
|
1 / 7739
|
36
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
|
|
22 / 7739
|
37
|
(OMIM)
|
Hypoplasia of anterior pituitary |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Ectopic or absent posterior pituitary |
|
|
|
|
1 / 7739
|
39
|
(OMIM)
|
Low or absent growth hormone (GH) |
|
|
|
|
5 / 7739
|
40
|
(OMIM)
|
Low or absent thyrotropin (TSH) |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Low or absent follicle stimulating hormone (FSH) |
|
|
|
|
4 / 7739
|
42
|
(OMIM)
|
Low or absent luteinizing hormone (LH) |
|
|
|
|
4 / 7739
|
43
|
(OMIM)
|
Low or absent adrenocorticotropic hormone (ACTH) |
|
|
|
|
3 / 7739
|
44
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
45
|
(HPO:0040075)
|
Hypopituitarism |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
46
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
47
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
48
|
(HPO:0011037)
|
Decreased urine output |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
49
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
50
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
51
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
53
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|