|
1
|
(HPO:0001332)
|
Dystonia |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001582)
|
Redundant skin |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0000298)
|
Mask-like facies |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0000717)
|
Autism |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
9
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
10
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
11
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
12
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
13
|
(HPO:0002251)
|
Aganglionic megacolon |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0002595)
|
Ileus |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0005214)
|
Intestinal obstruction |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
18
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
19
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
20
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
21
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
22
|
(HPO:0004326)
|
Cachexia |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
23
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
24
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
25
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
26
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
27
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
|
28
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
29
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
30
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
31
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
32
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
33
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
34
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
35
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
36
|
(HPO:0000735)
|
Impaired social interactions |
|
|
|
|
20 / 7739
|
|
37
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
38
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
39
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
40
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
41
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
42
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
43
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
44
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
45
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
46
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
47
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
48
|
(HPO:0007057)
|
Poor hand-eye coordination |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0008583)
|
Underfolded superior helices |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
51
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
52
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
53
|
(OMIM)
|
Long, thin face |
|
|
|
|
3 / 7739
|
|
54
|
(OMIM)
|
Unfolded superior helices |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
56
|
(OMIM)
|
Stub thumb |
|
|
|
|
2 / 7739
|
|
57
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
58
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
59
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
60
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
61
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
62
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
63
|
(OMIM)
|
Speech and language delay, severe |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Decreased creatine signal seen on magnetic resonance spectroscopy |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Mild structural abnormalities seen MRI (in some patients) |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Behavioral changes consistent with an autistic disorder |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Impaired creatine uptake in fibroblasts |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
Increased urinary creatine |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Increased plasma creatine |
|
|
|
|
1 / 7739
|
|
70
|
(OMIM)
|
Increased urinary creatine-to-creatinine ratio |
|
|
|
|
1 / 7739
|
|
71
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
72
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
73
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
74
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|