|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
2
|
(HPO:0000049)
|
Shawl scrotum |
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
|
4
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
5
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
7
|
(HPO:0000243)
|
Trigonocephaly |
|
|
|
|
40 / 7739
|
|
8
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
|
9
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
10
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
11
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
12
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
13
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
14
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
15
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
16
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
17
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
18
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
19
|
(HPO:0000474)
|
Thickened nuchal skin fold |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0005989)
|
Redundant neck skin |
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
22
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
23
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
24
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
25
|
(HPO:0000996)
|
Facial capillary hemangioma |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
27
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
28
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
29
|
(HPO:0001601)
|
Laryngomalacia |
|
|
|
|
61 / 7739
|
|
30
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
31
|
(HPO:0001810)
|
Dystrophic toenail |
|
|
|
|
9 / 7739
|
|
32
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
33
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
|
|
40 / 7739
|
|
34
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
35
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
36
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
37
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
38
|
(OMIM)
|
Long, flat philtrum |
|
|
|
|
5 / 7739
|
|
39
|
(OMIM)
|
Vertically inserted eyelashes |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
41
|
(OMIM)
|
Ridged metopic suture |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Laterally displaced hair whorl |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
44
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|