|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
3
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
6
|
(HPO:0010743)
|
Short metatarsal |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0001805)
|
Thick nail |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
10
|
(HPO:0010761)
|
Broad columella |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
14
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
15
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
18
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
20
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
21
|
(HPO:0000048)
|
Bifid scrotum |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
22
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
23
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
24
|
(HPO:0006315)
|
Single median maxillary incisor |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
25
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
26
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
27
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
28
|
(HPO:0002558)
|
Supernumerary nipple |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
29
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
30
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
31
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
32
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
33
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
34
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
35
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
36
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
37
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
38
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
39
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
40
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
41
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
42
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
|
43
|
(HPO:0001845)
|
Overlapping toe |
|
|
|
|
18 / 7739
|
|
44
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
45
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
46
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
47
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
48
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
49
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
50
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
51
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
52
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
53
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
54
|
(OMIM)
|
Slender habitus |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Thin, sparse eyelashes |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
V-shaped nasal tip |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Low-set columella |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Long, tapering digits |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Thin, dry skin |
|
|
|
|
2 / 7739
|
|
60
|
(OMIM)
|
Cutis aplasia, occipital |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Little or no speech acquisition |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Cytogenetic deletion of chromosome 19q13 |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
|
64
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
65
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
66
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
67
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
68
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
69
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
70
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|