1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
3
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
4
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
5
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
8
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
9
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
10
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
11
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
12
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
13
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
14
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
15
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
16
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
17
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
18
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
19
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
20
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
22
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
23
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
24
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
25
|
(HPO:0000453)
|
Choanal atresia |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
26
|
(HPO:0009700)
|
Finger symphalangism |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
27
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
28
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
29
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
30
|
(HPO:0003041)
|
Humeroradial synostosis |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
31
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
32
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
33
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
34
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
35
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
36
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
37
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
38
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
39
|
(HPO:0000632)
|
Lacrimation abnormality |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
40
|
(HPO:0000041)
|
Chordee |
|
|
|
|
11 / 7739
|
41
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
42
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
43
|
(HPO:0000171)
|
Microglossia |
|
|
|
|
27 / 7739
|
44
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
45
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
46
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
47
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
48
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
49
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
50
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
51
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
52
|
(HPO:0000916)
|
Broad clavicles |
|
|
|
|
6 / 7739
|
53
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
54
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
55
|
(HPO:0001043)
|
Prominent scalp veins |
|
|
|
|
3 / 7739
|
56
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
57
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
58
|
(HPO:0001187)
|
Hyperextensibility of the finger joints |
|
|
|
|
12 / 7739
|
59
|
(HPO:0001231)
|
Abnormality of the fingernails |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
60
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
61
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
62
|
(HPO:0001545)
|
Anteriorly placed anus |
|
|
|
|
55 / 7739
|
63
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
64
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
65
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
66
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
67
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
68
|
(HPO:0005019)
|
Diaphyseal thickening |
|
|
|
|
4 / 7739
|
69
|
(HPO:0005477)
|
Progressive sclerosis of skull base |
|
|
|
|
1 / 7739
|
70
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
71
|
(HPO:0006152)
|
Proximal symphalangism of hands |
|
|
|
|
9 / 7739
|
72
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
73
|
(HPO:0007678)
|
Lacrimal duct stenosis |
|
|
|
|
8 / 7739
|
74
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
75
|
(HPO:0009843)
|
Aplasia/Hypoplasia of the middle phalanges of the hand |
|
|
|
|
13 / 7739
|
76
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
77
|
(OMIM)
|
Postnatal short stature |
|
|
|
|
4 / 7739
|
78
|
(OMIM)
|
Severe emaciation |
|
|
|
|
1 / 7739
|
79
|
(OMIM)
|
Broad, prominent forehead |
|
|
|
|
2 / 7739
|
80
|
(OMIM)
|
Dysplastic enamel |
|
|
|
|
1 / 7739
|
81
|
(OMIM)
|
Shallow, distorted orbits |
|
|
|
|
1 / 7739
|
82
|
(OMIM)
|
Progressive sclerosis of facial bones |
|
|
|
|
1 / 7739
|
83
|
(OMIM)
|
Metaphyseal hypostosis |
|
|
|
|
1 / 7739
|
84
|
(OMIM)
|
Long, flared metaphyses |
|
|
|
|
1 / 7739
|
85
|
(OMIM)
|
Osteopenic epiphyses |
|
|
|
|
1 / 7739
|
86
|
(OMIM)
|
Dorsiflexion of fingers |
|
|
|
|
1 / 7739
|
87
|
(HPO:0100264)
|
Proximal symphalangism |
|
|
|
|
3 / 7739
|
88
|
(OMIM)
|
Thin, hypotrophic skin |
|
|
|
|
1 / 7739
|
89
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
90
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
91
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
92
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
93
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
94
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
95
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
96
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
97
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
98
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
99
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
100
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|