|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
4
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000275)
|
Narrow face |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0000464)
|
Abnormality of the neck |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
9
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
10
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
11
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
12
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
13
|
(HPO:0100651)
|
Type I diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
14
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
15
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
16
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
17
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
18
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
19
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
20
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
21
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
22
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
23
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
24
|
(HPO:0000395)
|
Prominent antihelix |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
26
|
(HPO:0000549)
|
Abnormal conjugate eye movement |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
28
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
29
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
30
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
31
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
32
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
33
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
34
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
35
|
(HPO:0001583)
|
Rotary nystagmus |
rare [HPO:probinson]
|
|
|
|
7 / 7739
|
|
36
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
37
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
38
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
39
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
40
|
(HPO:0002188)
|
Delayed CNS myelination |
|
|
|
|
16 / 7739
|
|
41
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
42
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
43
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
44
|
(HPO:0002540)
|
Inability to walk |
|
|
|
|
19 / 7739
|
|
45
|
(HPO:0002925)
|
Thyroid-stimulating hormone excess |
|
|
|
|
12 / 7739
|
|
46
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
47
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
48
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
49
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
50
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
51
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
52
|
(HPO:0100015)
|
Stahl ear |
|
|
|
|
2 / 7739
|
|
53
|
(OMIM)
|
Elongated face |
|
|
|
|
4 / 7739
|
|
54
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
55
|
(OMIM)
|
Pinna modeling anomalies |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Flattened antihelix |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Pectus excavatum, broad, shallow |
|
|
|
|
1 / 7739
|
|
58
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
59
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
60
|
(OMIM)
|
Hypotonia, proximal, severe |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Inability to hold neck up ('limber neck') onset at 6 months |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Neck drop |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
64
|
(OMIM)
|
Inability to stand |
|
|
|
|
2 / 7739
|
|
65
|
(OMIM)
|
Dystonic posturing of the hands |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Inability to communicate |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
No gaze contact |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
Lack of communication |
|
|
|
|
1 / 7739
|
|
69
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
70
|
(OMIM)
|
Leukodystrophy and white matter changes, which improve with age |
|
|
|
|
1 / 7739
|
|
71
|
(OMIM)
|
Decreased serum thyroxine (T4) |
|
|
|
|
1 / 7739
|
|
72
|
(OMIM)
|
Decreased serum free thyroxine |
|
|
|
|
1 / 7739
|
|
73
|
(OMIM)
|
Normal or mildly increased thyroid-stimulating hormone (TSH) |
|
|
|
|
1 / 7739
|
|
74
|
(OMIM)
|
Increased serum triiodothyronine (T3) |
|
|
|
|
1 / 7739
|
|
75
|
(OMIM)
|
Decreased serum rT3 |
|
|
|
|
1 / 7739
|
|
76
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
77
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
78
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
79
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|