1
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
2
|
(HPO:0002263)
|
Exaggerated cupid's bow |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
4
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
5
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
6
|
(HPO:0002002)
|
Deep philtrum |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
7
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
9
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
10
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
11
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
12
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
13
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
14
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
16
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
17
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
18
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
19
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
20
|
(HPO:0001863)
|
Toe clinodactyly |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
21
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
22
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
23
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
24
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
25
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
26
|
(HPO:0005338)
|
Sparse lateral eyebrow |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
27
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
28
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
29
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
30
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
31
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
32
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
33
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
34
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
35
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
36
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
37
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
38
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
39
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
40
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
41
|
(HPO:0001655)
|
Patent foramen ovale |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
42
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
43
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
44
|
(HPO:0002540)
|
Inability to walk |
|
|
|
|
19 / 7739
|
45
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
46
|
(HPO:0011400)
|
Abnormal CNS myelination |
|
|
|
|
10 / 7739
|
47
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|
48
|
(OMIM)
|
Lack of fixation |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Triangular medial eyebrows with distal tapering |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Cupid bow |
|
|
|
|
2 / 7739
|
51
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
52
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
53
|
(OMIM)
|
Minimal or lack of speech |
|
|
|
|
1 / 7739
|
54
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
55
|
(HPO:0012447)
|
Abnormal myelination |
|
|
|
|
7 / 7739
|
56
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
57
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
58
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
59
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
60
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|