|
1
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000104)
|
Renal agenesis |
rare [HPO:skoehler]
|
|
|
|
68 / 7739
|
|
3
|
(HPO:0010958)
|
Bilateral renal agenesis |
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
5
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
11
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
13
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
15
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
17
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
18
|
(HPO:0000800)
|
Cystic renal dysplasia |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
20
|
(HPO:0001199)
|
Triphalangeal thumb |
|
|
|
|
56 / 7739
|
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
22
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
25
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
26
|
(HPO:0001305)
|
Dandy-Walker malformation |
rare [HPO:skoehler]
|
|
|
|
79 / 7739
|
|
27
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
|
28
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
29
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
30
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
31
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
32
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
|
33
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
34
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
35
|
(HPO:0011476)
|
Profound sensorineural hearing impairment |
|
|
|
|
7 / 7739
|
|
36
|
(OMIM)
|
Narrow bifrontal diameter |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Deafness, profound, sensorineural |
|
|
|
|
7 / 7739
|
|
38
|
(OMIM)
|
Thick everted lower lip (deletion patients) |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0009835)
|
Aplasia/Hypoplasia of the distal phalanges of the hand |
|
|
|
|
9 / 7739
|
|
40
|
(OMIM)
|
Small or absent nails on the hands and feet |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
42
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
43
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
44
|
(OMIM)
|
Peripheral polyneuropathy |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Increased serum and urinary 2-oxoglutarate |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
47
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
48
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
49
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
50
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
rare [HPO:skoehler]
|
|
|
|
355 / 7739
|