|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
7
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
8
|
(HPO:0000426)
|
Prominent nasal bridge |
rare [HPO:skoehler]
|
|
|
|
121 / 7739
|
|
9
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0000431)
|
Wide nasal bridge |
rare [HPO:skoehler]
|
|
|
|
290 / 7739
|
|
11
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000506)
|
Telecanthus |
rare [HPO:skoehler]
|
|
|
|
156 / 7739
|
|
14
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0000581)
|
Blepharophimosis |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
17
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
18
|
(HPO:0000964)
|
Eczema |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0000976)
|
Eczematoid dermatitis |
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
|
|
20 / 7739
|
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
22
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
23
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
24
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
25
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
26
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
27
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
28
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
29
|
(HPO:0001771)
|
Achilles tendon contracture |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
30
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
rare [HPO:skoehler]
|
|
|
|
214 / 7739
|
|
31
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
32
|
(HPO:0008070)
|
Sparse hair |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
|
33
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
34
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
35
|
(OMIM)
|
Long columella |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Full upper lip |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Downturned upper lip |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
39
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
40
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
41
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
42
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
43
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
44
|
(OMIM)
|
Distal myopathy |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
46
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
47
|
(OMIM)
|
Limited speech |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
49
|
(OMIM)
|
Broad gait |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Equivocal plantar responses |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
52
|
(OMIM)
|
Increased serum lactate dehydrogenase (LDH) |
|
|
|
|
3 / 7739
|
|
53
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|