Symptom Information: Sort according to HPO 

1
 (HPO:0000348) High forehead rare [HPO:skoehler] 157 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
3
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
5
 (HPO:0000486) Strabismus 576 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001319) Neonatal hypotonia 101 / 7739
9
 (HPO:0002013) Vomiting 191 / 7739
10
 (HPO:0002179) Opisthotonus 35 / 7739
11
 (HPO:0003186) Inverted nipples rare [HPO:skoehler] 15 / 7739
12
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
13
 (HPO:0005968) Temperature instability 5 / 7739
14
 (HPO:0011968) Feeding difficulties 240 / 7739
15
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
16
 (OMIM) Delayed pupillary responses (in some patients) 1 / 7739
17
 (OMIM) Lack of blink reflex (in some patients) 1 / 7739
18
 (OMIM) Poor response to light (in some patients) 1 / 7739
19
 (OMIM) Recurrent vomiting 1 / 7739
20
 (OMIM) Low hairline 4 / 7739
21
 (OMIM) Lack of speech 17 / 7739
22
 (HPO:0000735) Impaired social interactions 20 / 7739
23
 (OMIM) Peripheral hypertonia 4 / 7739
24
 (OMIM) Increased di- and asialo-transferrin 1 / 7739
25
 (OMIM) Decreased tetrasialo-transferrin 1 / 7739
26
 (OMIM) Accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts 1 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0001344) Absent speech 57 / 7739
29
 (HPO:0003593) Infantile onset 249 / 7739