|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
6
|
(HPO:0001105)
|
Retinal atrophy |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
10
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
12
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
13
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
14
|
(HPO:0005458)
|
Premature closure of fontanelles |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
16
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
17
|
(OMIM)
|
Overriding sutures |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Some patients may show normal early development |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Loss of motor function |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
MRI shows cerebral atrophy |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
MRI shows cerebellar atrophy |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Neuronal loss in the cerebrum and cerebellum |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Glial activation |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
White matter lacks axons and myelin |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
|
26
|
(OMIM)
|
Granular osmiophilic cytoplasmic deposits in Schwann cells |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Myelin-like lamellar structures in Schwann cells |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Decrease or absence of cathepsin D (CTSD) protein immunostaining |
|
|
|
|
2 / 7739
|