1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
4
|
(HPO:0100750)
|
Atelectasis |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
5
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
6
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
7
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
9
|
(HPO:0001022)
|
Albinism |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
10
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
11
|
(HPO:0001063)
|
Acrocyanosis |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
12
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
13
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
14
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
15
|
(HPO:0002779)
|
Tracheomalacia |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
16
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
17
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
18
|
(HPO:0010804)
|
Tented upper lip vermilion |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
20
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
21
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
22
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
23
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
24
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
25
|
(HPO:0001053)
|
Hypopigmented skin patches |
|
|
|
|
80 / 7739
|
26
|
(HPO:0001100)
|
Heterochromia iridis |
|
|
|
|
31 / 7739
|
27
|
(HPO:0007818)
|
Central heterochromia |
|
|
|
|
2 / 7739
|
28
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
29
|
(HPO:0002216)
|
Premature graying of hair |
|
|
|
|
43 / 7739
|
30
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
31
|
(HPO:0007443)
|
Partial albinism |
|
|
|
|
8 / 7739
|
32
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
33
|
(OMIM)
|
Hypopigmented iris |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Bright blue eyes |
|
|
|
|
3 / 7739
|
35
|
(OMIM)
|
Hypoplastic alae |
|
|
|
|
2 / 7739
|
36
|
(OMIM)
|
Contractures of the upper limb joints |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Hypoplasia of the bones of the upper limbs and wrists |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Hypoplasia of the hand muscles |
|
|
|
|
2 / 7739
|
39
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
40
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
41
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
42
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
43
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
44
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|