|
1
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000269)
|
Prominent occiput |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
Occasional [Orphanet]
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
5
|
(HPO:0000446)
|
Narrow nasal bridge |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
7
|
(HPO:0000540)
|
Hypermetropia |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
8
|
(HPO:0000601)
|
Hypotelorism |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
9
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
14
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
16
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
17
|
(HPO:0002901)
|
Hypocalcemia |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
18
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0005108)
|
Abnormality of the intervertebral disk |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
22
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
23
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
24
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
25
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
26
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
28
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
29
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
30
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
31
|
(HPO:0000829)
|
Hypoparathyroidism |
|
|
|
|
22 / 7739
|
|
32
|
(HPO:0000935)
|
Thickened cortex of long bones |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0001085)
|
Papilledema |
|
|
|
|
31 / 7739
|
|
34
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
35
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
36
|
(HPO:0001620)
|
High pitched voice |
rare [HPO:skoehler]
|
|
|
|
32 / 7739
|
|
37
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
38
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
39
|
(HPO:0007862)
|
Retinal calcification |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0008285)
|
Transient hypophosphatemia |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
42
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
43
|
(HPO:0100253)
|
Abnormality of the medullary cavity of the long bones |
|
|
|
|
1 / 7739
|