1
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
2
|
(HPO:0012371)
|
Hyperplasia of midface |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
3
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
4
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
5
|
(HPO:0000483)
|
Astigmatism |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
7
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
8
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
9
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
10
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
11
|
(HPO:0011302)
|
Long palm |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
12
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
13
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
15
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
16
|
(HPO:0000340)
|
Sloping forehead |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
17
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
18
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
19
|
(HPO:0001348)
|
Brisk reflexes |
|
|
|
|
15 / 7739
|
20
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
21
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
22
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
23
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
24
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
25
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
27
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|