|
1
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
2
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000341)
|
Narrow forehead |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
10
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000657)
|
Oculomotor apraxia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
14
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
17
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
18
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
|
19
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
21
|
(HPO:0002104)
|
Apnea |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
22
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
24
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
25
|
(HPO:0002553)
|
Highly arched eyebrow |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
26
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
27
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
28
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
|
29
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
30
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
31
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
32
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
33
|
(HPO:0001651)
|
Dextrocardia |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
34
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
35
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
36
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
37
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
38
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0000107)
|
Renal cyst |
Rare [HPO:probinson]
|
|
|
|
126 / 7739
|
|
41
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
42
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
43
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
44
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
45
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
46
|
(HPO:0000570)
|
Abnormality of saccadic eye movements |
|
|
|
|
12 / 7739
|
|
47
|
(HPO:0000588)
|
Optic nerve coloboma |
|
|
|
|
27 / 7739
|
|
48
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
49
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
50
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
51
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
|
52
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
53
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
54
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
55
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
56
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
57
|
(HPO:0002195)
|
Dysgenesis of the cerebellar vermis |
|
|
|
|
2 / 7739
|
|
58
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
59
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
60
|
(HPO:0002508)
|
Brainstem dysplasia |
|
|
|
|
5 / 7739
|
|
61
|
(HPO:0002790)
|
Neonatal breathing dysregulation |
|
|
|
|
7 / 7739
|
|
62
|
(HPO:0002871)
|
Central apnea |
|
|
|
|
10 / 7739
|
|
63
|
(HPO:0002876)
|
Episodic tachypnea |
|
|
|
|
6 / 7739
|
|
64
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
65
|
(HPO:0007271)
|
Occipital myelomeningocele |
Rare [HPO:probinson]
|
|
|
|
2 / 7739
|
|
66
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
67
|
(HPO:0007973)
|
Retinal dysplasia |
Rare [HPO:probinson]
|
|
|
|
27 / 7739
|
|
68
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
|
69
|
(HPO:0010828)
|
Hemifacial spasm |
|
|
|
|
3 / 7739
|
|
70
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
71
|
(HPO:0011933)
|
Elongated superior cerebellar peduncle |
|
|
|
|
6 / 7739
|
|
72
|
(HPO:0100951)
|
Enlarged fossa interpeduncularis |
|
|
|
|
4 / 7739
|
|
73
|
(HPO:0200096)
|
Triangular-shaped open mouth |
|
|
|
|
3 / 7739
|