|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0002208)
|
Coarse hair |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
11
|
(HPO:0000684)
|
Delayed eruption of teeth |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
14
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
15
|
(HPO:0002217)
|
Slow-growing hair |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
19
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
20
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
21
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
22
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
23
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
24
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
27
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
28
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
29
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
30
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
31
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
32
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
33
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
34
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
35
|
(HPO:0006334)
|
Hypoplasia of the primary teeth |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0006347)
|
Microdontia of primary teeth |
|
|
|
|
4 / 7739
|
|
37
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
38
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
|
39
|
(OMIM)
|
Large nose with large nasal tip |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
41
|
(OMIM)
|
Mild metaphyseal dysplasia |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Epiphyseal hypoplasia |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Brachydactyly, mild |
|
|
|
|
5 / 7739
|
|
44
|
(OMIM)
|
Septum pellucidum cyst |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Large cavum vergae |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0008905)
|
Rhizomelia |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
47
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
48
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
49
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
51
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
52
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|