|
1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
3
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
4
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
5
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
8
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
11
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
18
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
19
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
20
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
21
|
(HPO:0002280)
|
Enlarged cisterna magna |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
23
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
24
|
(HPO:0005274)
|
Prominent nasal tip |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0007110)
|
Central hypoventilation |
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
27
|
(HPO:0011670)
|
Left superior vena cava draining to coronary sinus |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
29
|
(OMIM)
|
Narrow ear canals |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Gastroesophageal reflux, severe |
|
|
|
|
3 / 7739
|
|
31
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
32
|
(OMIM)
|
Second finger overlap with third finger |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Hypoplastic flexion creases |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Two vessel cord |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|