|
1
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0000873)
|
Diabetes insipidus |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
6
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001557)
|
Prenatal movement abnormality |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
10
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
11
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
12
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
13
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
17
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
18
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
19
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
20
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
21
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
22
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
23
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
24
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
25
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
26
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
27
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
28
|
(HPO:0040075)
|
Hypopituitarism |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
29
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
30
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
31
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
32
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
33
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|