Symptom Information: Sort according to HPO 

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