|
1
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
6
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
7
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
10
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
16
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|