|
1
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
4
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
5
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
6
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
7
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
9
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
12
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
13
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
14
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
15
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
19
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
|
20
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
21
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
|
|
22 / 7739
|
|
22
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
|
23
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
24
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
27
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
28
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
30
|
(OMIM)
|
Macrosomia, mild |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Macrocephaly, mild |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
33
|
(OMIM)
|
Premature loss of incisors |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Ureteral dilation |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Abnormal skull shape |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Premature close of sutures |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Secondary ossification centers |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Wide and long femoral necks |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
40
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
41
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
42
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
43
|
(OMIM)
|
Motor and intellectual disability, severe |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
45
|
(OMIM)
|
Variable intracranial abnormalities |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Frontotemporal atrophy |
|
|
|
|
3 / 7739
|
|
47
|
(OMIM)
|
Primitive Sylvian fissures |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Decreased alkaline phosphatase |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
51
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|