1
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
4
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
6
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
7
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
8
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
9
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
13
|
(HPO:0003042)
|
Elbow dislocation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
14
|
(HPO:0003100)
|
Slender long bone |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
15
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
16
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
17
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
18
|
(HPO:0006498)
|
Aplasia/Hypoplasia of the patella |
|
|
|
|
10 / 7739
|
19
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
20
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
21
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
22
|
(HPO:0100783)
|
Breast aplasia |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
23
|
(HPO:0003045)
|
Abnormality of the patella |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
24
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
25
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
26
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
27
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
28
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
29
|
(HPO:0012471)
|
Thick vermilion border |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
30
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
31
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
32
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
33
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
34
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
35
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
36
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
37
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
40
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
41
|
(HPO:0000049)
|
Shawl scrotum |
|
|
|
|
31 / 7739
|
42
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
43
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
44
|
(HPO:0000064)
|
Hypoplastic labia minora |
|
|
|
|
7 / 7739
|
45
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
46
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
47
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
48
|
(HPO:0000237)
|
Small anterior fontanelle |
|
|
|
|
10 / 7739
|
49
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
50
|
(HPO:0000376)
|
Incomplete partition of the cochlea type II |
|
|
|
|
5 / 7739
|
51
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
52
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
53
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
54
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
55
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
56
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
57
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
58
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
59
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
60
|
(HPO:0000911)
|
Flat glenoid fossa |
|
|
|
|
4 / 7739
|
61
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
62
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
63
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
64
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
65
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
66
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
67
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
68
|
(HPO:0001795)
|
Hyperconvex nail |
|
|
|
|
13 / 7739
|
69
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
70
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
71
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
72
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
73
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
74
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
75
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
76
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
77
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
78
|
(HPO:0006591)
|
Absent glenoid fossa |
|
|
|
|
1 / 7739
|
79
|
(HPO:0006628)
|
Absent sternal ossification |
|
|
|
|
6 / 7739
|
80
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
81
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
82
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
83
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
84
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
85
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
86
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|