1
|
(HPO:0002901)
|
Hypocalcemia |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
2
|
(HPO:0005487)
|
Prominent metopic ridge |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
4
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
5
|
(HPO:0000474)
|
Thickened nuchal skin fold |
|
|
|
|
10 / 7739
|
6
|
(HPO:0005989)
|
Redundant neck skin |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
8
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
9
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
11
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
12
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
13
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
15
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
16
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
17
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
18
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
19
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
20
|
(HPO:0009928)
|
Thick nasal alae |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
21
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
22
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
23
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
24
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
25
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
26
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
27
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
28
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
29
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
30
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
31
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
32
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
33
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
34
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
35
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
36
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
37
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
38
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
39
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
40
|
(HPO:0001004)
|
Lymphedema |
|
|
|
|
62 / 7739
|
41
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
42
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
43
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
44
|
(HPO:0001541)
|
Ascites |
|
|
|
|
94 / 7739
|
45
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
46
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
47
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
48
|
(HPO:0002243)
|
Protein-losing enteropathy |
|
|
|
|
8 / 7739
|
49
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
|
|
27 / 7739
|
50
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
51
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
52
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
53
|
(HPO:0006273)
|
Pancreatic lymphangiectasis |
|
|
|
|
1 / 7739
|
54
|
(HPO:0006521)
|
Pulmonary lymphangiectasia |
|
|
|
|
6 / 7739
|
55
|
(HPO:0008229)
|
Thyroid lymphangiectasia |
|
|
|
|
2 / 7739
|
56
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
57
|
(HPO:0009085)
|
Alveolar ridge overgrowth |
|
|
|
|
4 / 7739
|
58
|
(OMIM)
|
Long thin upper lip |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Stomach, jejunal, and ileal lymphangiectasis |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Mullerian duct remnants (uterus and fallopian tube in male patients) |
|
|
|
|
1 / 7739
|
61
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
62
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
63
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
64
|
(HPO:0100037)
|
Abnormality of the scalp hair |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
65
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
66
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
67
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
68
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
69
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
70
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
71
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
72
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|