|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
8
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
10
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0000537)
|
Epicanthus inversus |
|
|
|
|
7 / 7739
|
|
12
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
13
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
14
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
17
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
18
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
19
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
20
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0001264)
|
Spastic diplegia |
|
|
|
|
24 / 7739
|
|
23
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
24
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
25
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
26
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
27
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
28
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
29
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
30
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
31
|
(HPO:0002370)
|
Poor coordination |
|
|
|
|
15 / 7739
|
|
32
|
(HPO:0002376)
|
Developmental regression |
rare [HPO:skoehler]
|
|
|
|
74 / 7739
|
|
33
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
34
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
35
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
36
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
37
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
38
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
39
|
(OMIM)
|
Decreased weight for age |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Generalized severe growth retardation |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Bifrontal narrowness |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Malar flatness |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
|
44
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
45
|
(OMIM)
|
Decreased muscle strength |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
47
|
(OMIM)
|
Developmental regression after age 2 years |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Ventricular enlargement |
|
|
|
|
4 / 7739
|
|
49
|
(OMIM)
|
Agenesis of the corpus callosum, partial |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Self-abuse |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Defect in oxidative phosphorylation |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
53
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|