|
1
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
2
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
3
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
4
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
5
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
8
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
10
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
11
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
12
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
13
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
15
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
18
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
19
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
20
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
21
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
22
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
23
|
(HPO:0000464)
|
Abnormality of the neck |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0000579)
|
Nasolacrimal duct obstruction |
|
|
|
|
9 / 7739
|
|
25
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
26
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
27
|
(HPO:0003057)
|
Tetraamelia |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
29
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
30
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
31
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
32
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
33
|
(HPO:0100853)
|
Hypoplastic areola |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Thyroid enlargement |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Abnormal ECG and EEG |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
High urinary tyrosine and/or tryptophane |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Incomplete cleft lip |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Hypoplastic nipples and areolae |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
40
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0002813)
|
Abnormality of limb bone morphology |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
43
|
(HPO:0009115)
|
Aplasia/hypoplasia involving the skeleton |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
44
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
45
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
46
|
(HPO:0040064)
|
Abnormality of limbs |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
47
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
48
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|