1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
4
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
5
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
6
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
7
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
8
|
(HPO:0010804)
|
Tented upper lip vermilion |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
9
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
10
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
11
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
12
|
(HPO:0002162)
|
Low posterior hairline |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
13
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
14
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
16
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
17
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
18
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
19
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
20
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
21
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
22
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
23
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
24
|
(HPO:0010958)
|
Bilateral renal agenesis |
|
|
|
|
16 / 7739
|
25
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
26
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
27
|
(HPO:0000188)
|
Short upper lip |
|
|
|
|
8 / 7739
|
28
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
29
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
30
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
31
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
32
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
33
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
34
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
35
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
36
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
37
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
38
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
39
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
40
|
(HPO:0000451)
|
Triangular nasal tip |
|
|
|
|
8 / 7739
|
41
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
42
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
43
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
44
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
45
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
46
|
(HPO:0000749)
|
Paroxysmal bursts of laughter |
|
|
|
|
8 / 7739
|
47
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
48
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
49
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
50
|
(HPO:0001238)
|
Slender finger |
|
|
|
|
23 / 7739
|
51
|
(HPO:0001250)
|
Seizures |
35% [HPO:probinson]
|
|
|
|
1245 / 7739
|
52
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
53
|
(HPO:0001566)
|
Widely-spaced maxillary central incisors |
|
|
|
|
15 / 7739
|
54
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
55
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
56
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
|
|
|
|
37 / 7739
|
57
|
(HPO:0001884)
|
Talipes calcaneovalgus |
|
|
|
|
14 / 7739
|
58
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
59
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
60
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
61
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
62
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
63
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
64
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
65
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
66
|
(HPO:0006895)
|
Lower limb hypertonia |
|
|
|
|
4 / 7739
|
67
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
68
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
69
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
70
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
71
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
72
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
73
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
74
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
75
|
(OMIM)
|
Obesity, mild (less common) |
|
|
|
|
8 / 7739
|
76
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
77
|
(OMIM)
|
Small philtrum |
|
|
|
|
7 / 7739
|
78
|
(OMIM)
|
Everted ears |
|
|
|
|
7 / 7739
|
79
|
(OMIM)
|
Hyperfolded ears |
|
|
|
|
7 / 7739
|
80
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
81
|
(OMIM)
|
Short, thin upper lip |
|
|
|
|
7 / 7739
|
82
|
(OMIM)
|
Gut dysmotility |
|
|
|
|
7 / 7739
|
83
|
(OMIM)
|
Slender, tapering fingers |
|
|
|
|
7 / 7739
|
84
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
85
|
(OMIM)
|
Clinodactyly of isolated digits |
|
|
|
|
8 / 7739
|
86
|
(OMIM)
|
Mental retardation, severe, profound |
|
|
|
|
7 / 7739
|
87
|
(OMIM)
|
Hypertonia of lower limbs, later |
|
|
|
|
7 / 7739
|
88
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
89
|
(OMIM)
|
Repetitive, self-stimulatory behavior using upper limbs |
|
|
|
|
7 / 7739
|
90
|
(OMIM)
|
Fingers in mouth |
|
|
|
|
7 / 7739
|
91
|
(OMIM)
|
Self-absorbed |
|
|
|
|
7 / 7739
|
92
|
(OMIM)
|
Absence of Hb H inclusions in red blood cells |
|
|
|
|
7 / 7739
|
93
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
94
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
95
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
96
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
97
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|