|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
5
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000736)
|
Short attention span |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
17
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
18
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
19
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
20
|
(OMIM)
|
Increased serum growth hormone |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased serum insulin-like growth factor 1 (IGF1) |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
24
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|