1
|
(HPO:0000076)
|
Vesicoureteral reflux |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
2
|
(HPO:0000081)
|
Duplicated collecting system |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
4
|
(HPO:0000207)
|
Triangular mouth |
|
|
|
|
8 / 7739
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
6
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
7
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
8
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
9
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
10
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
11
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
12
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
14
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
15
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
16
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
17
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
18
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
19
|
(HPO:0001331)
|
Absent septum pellucidum |
|
|
|
|
16 / 7739
|
20
|
(HPO:0001341)
|
Olfactory lobe agenesis |
|
|
|
|
5 / 7739
|
21
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
22
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
23
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
24
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
25
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
26
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
27
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
28
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
29
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
30
|
(HPO:0003517)
|
Birth length greater than 97th percentile |
|
|
|
|
4 / 7739
|
31
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
32
|
(HPO:0007361)
|
Abnormality of the pons |
|
|
|
|
1 / 7739
|
33
|
(HPO:0011398)
|
Central hypotonia |
|
|
|
|
12 / 7739
|
34
|
(OMIM)
|
Long birth length |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
High birth weight |
|
|
|
|
2 / 7739
|
36
|
(OMIM)
|
Short, anteverted nose |
|
|
|
|
1 / 7739
|
37
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
38
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
39
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
40
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
41
|
(OMIM)
|
Absence of the olfactory bulbs and tracts |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
White matter immaturity |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Abnormal cortical lamination |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Dysplastic pons |
|
|
|
|
1 / 7739
|
45
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
46
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
47
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
48
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
49
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
50
|
(HPO:0001051)
|
Seborrheic dermatitis |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
51
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
52
|
(HPO:0001394)
|
Cirrhosis |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
53
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
54
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
55
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
56
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
|
|
467 / 7739
|
57
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
58
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
59
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
60
|
(HPO:0008064)
|
Ichthyosis |
rare [HPO:skoehler]
|
|
|
|
108 / 7739
|
61
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
62
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
63
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|
64
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|