Symptom Information: Sort according to HPO 

1
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000666) Horizontal nystagmus 32 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
8
 (HPO:0001999) Abnormal facial shape rare [HPO:skoehler] 169 / 7739
9
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
10
 (HPO:0002240) Hepatomegaly 467 / 7739
11
 (HPO:0002719) Recurrent infections 107 / 7739
12
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
13
 (OMIM) Swelling of the eyelids (in 1 patient) 1 / 7739
14
 (HPO:0009473) Joint contracture of the hand 84 / 7739
15
 (OMIM) Swelling of the hands and feet (in 1 patient) 1 / 7739
16
 (OMIM) Refractory seizures 15 / 7739
17
 (OMIM) Developmental regression after onset of seizures 1 / 7739
18
 (OMIM) EEG shows hypsarrhythmia 4 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0001324) Muscle weakness 859 / 7739
21
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0001334) Communicating hydrocephalus 32 / 7739
24
 (HPO:0007256) Abnormal pyramidal signs rare [HPO:skoehler] 116 / 7739
25
 (OMIM) Increased bleeding tendency (in 1 patient) 1 / 7739
26
 (OMIM) Prolonged APPT (in 1 patient) 2 / 7739
27
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 10 / 7739
28
 (HPO:0012301) Type II transferrin isoform profile 6 / 7739
29
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
30
 (HPO:0003593) Infantile onset 249 / 7739