Symptom Information: Sort according to HPO 

1
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
2
 (HPO:0000529) Progressive visual loss 54 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
10
 (HPO:0002059) Cerebral atrophy 171 / 7739
11
 (HPO:0002063) Rigidity 92 / 7739
12
 (HPO:0002168) Scanning speech 10 / 7739
13
 (HPO:0002300) Mutism 28 / 7739
14
 (HPO:0002361) Psychomotor deterioration 26 / 7739
15
 (HPO:0002505) Progressive inability to walk 2 / 7739
16
 (HPO:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
17
 (HPO:0003208) Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 8 / 7739
18
 (OMIM) EEG is slowed with polyspike wave discharges 1 / 7739
19
 (OMIM) 'Ballooned' neurons with autofluorescent fine granular material 1 / 7739
20
 (OMIM) Apoptotic neurons 1 / 7739
21
 (OMIM) Fibroblasts are small and rounded with prominent nucleoli 1 / 7739
22
 (OMIM) Fibroblasts attach poorly 1 / 7739
23
 (OMIM) Fibroblasts show increased sensitivity to apoptosis 1 / 7739
24
 (OMIM) Fibroblasts demonstrate rapid growth with increased DNA synthesis 1 / 7739
25
 (OMIM) Fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside 1 / 7739
26
 (OMIM) Fibroblasts have increased activity of serine palmitoyltransferase (SPT, 605712) 1 / 7739
27
 (OMIM) Early death 13 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (HPO:0003819) Death in childhood 42 / 7739