1
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
2
|
(HPO:0000040)
|
Long penis |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
3
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
6
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
7
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
8
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
9
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
10
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
11
|
(HPO:0000592)
|
Blue sclerae |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
12
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
13
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
14
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
16
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
17
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
18
|
(HPO:0001852)
|
Sandal gap |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
19
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
20
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
21
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
22
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
23
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
24
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
25
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
26
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
27
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
28
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
29
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
30
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
31
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
32
|
(HPO:0003045)
|
Abnormality of the patella |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
33
|
(HPO:0001052)
|
Nevus flammeus |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
34
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
35
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
36
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
37
|
(HPO:0009829)
|
Phocomelia |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
38
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
39
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
40
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
41
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
42
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
43
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
44
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
46
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
47
|
(HPO:0002803)
|
Congenital contracture |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
48
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
49
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
51
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
52
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
53
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
54
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
55
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
56
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
57
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
58
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
59
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
60
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
61
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
62
|
(HPO:0000387)
|
Absent earlobe |
|
|
|
|
5 / 7739
|
63
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
64
|
(HPO:0000476)
|
Cystic hygroma |
|
|
|
|
22 / 7739
|
65
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
66
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
67
|
(HPO:0000625)
|
Cleft eyelid |
|
|
|
|
31 / 7739
|
68
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
69
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
70
|
(HPO:0001080)
|
Biliary tract abnormality |
|
|
|
|
26 / 7739
|
71
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
72
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
73
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
|
|
|
|
149 / 7739
|
74
|
(HPO:0001180)
|
Hand oligodactyly |
|
|
|
|
17 / 7739
|
75
|
(HPO:0001239)
|
Wrist flexion contracture |
|
|
|
|
13 / 7739
|
76
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
77
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
78
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
79
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
80
|
(HPO:0001747)
|
Accessory spleen |
|
|
|
|
8 / 7739
|
81
|
(HPO:0001772)
|
Talipes equinovalgus |
|
|
|
|
7 / 7739
|
82
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
83
|
(HPO:0003616)
|
Premature separation of centromeric heterochromatin |
|
|
|
|
3 / 7739
|
84
|
(HPO:0003826)
|
Stillbirth |
Occasional [HPO:probinson]
|
|
|
|
40 / 7739
|
85
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
86
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|
87
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
88
|
(HPO:0007330)
|
Frontal encephalocele |
|
|
|
|
3 / 7739
|
89
|
(HPO:0007452)
|
Midface capillary hemangioma |
|
|
|
|
4 / 7739
|
90
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
91
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
92
|
(HPO:0008683)
|
Enlarged labia minora |
|
|
|
|
2 / 7739
|
93
|
(HPO:0008846)
|
Severe intrauterine growth retardation |
|
|
|
|
5 / 7739
|
94
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
95
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
96
|
(HPO:0009933)
|
Narrow naris |
|
|
|
|
16 / 7739
|
97
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|