|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000411)
|
Protruding ear |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
10
|
(HPO:0009904)
|
Prominent ear helix |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000519)
|
Congenital cataract |
rare [HPO:skoehler]
|
|
|
|
73 / 7739
|
|
14
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
15
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
|
16
|
(HPO:0011478)
|
True anophthalmia |
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
18
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
19
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
22
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
23
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
24
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
|
25
|
(HPO:0002126)
|
Polymicrogyria |
rare [HPO:skoehler]
|
|
|
|
64 / 7739
|
|
26
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
27
|
(HPO:0006951)
|
Retrocerebellar cyst |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
28
|
(OMIM)
|
Aplasia cutis congenita of the scalp |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Facial dysmorphism, mild |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
31
|
(OMIM)
|
Bitemporal depression (rare) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Small palpebral fissures |
|
|
|
|
6 / 7739
|
|
33
|
(OMIM)
|
Rod dystrophy (rare) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Vitreoretinal abnormalities, congenital (rare) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Terminal transverse defects, asymmetric |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Shortened digits |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Webbing, interdigital |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Prominent veins on scalp, trunk, and/or extremities |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Lymphedema, of upper and/or lower extremity (rare) |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
41
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
42
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
43
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
44
|
(OMIM)
|
Calcifications of cerebral ventricles |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Dilation of cerebral ventricles |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
47
|
(OMIM)
|
Cerebellar hypoplasia, mild asymmetric (rare) |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
49
|
(HPO:0045025)
|
Narrow palpebral fissure |
|
|
|
|
8 / 7739
|