|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0003160)
|
Abnormal isoelectric focusing of serum transferrin |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
|
|
19 / 7739
|
|
8
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
9
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
12
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
13
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
15
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
16
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
17
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
20
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
23
|
(HPO:0008081)
|
Valgus foot deformity |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|