|
1
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
7
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0001581)
|
Recurrent skin infections |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
11
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
12
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
13
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
14
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
18
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
19
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
20
|
(HPO:0000988)
|
Skin rash |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
21
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
22
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
23
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
24
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
25
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
26
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
27
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
28
|
(HPO:0001123)
|
Visual field defect |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
29
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
30
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
31
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
32
|
(HPO:0001992)
|
Organic aciduria |
|
|
|
|
28 / 7739
|
|
33
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
34
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
35
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
36
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
37
|
(HPO:0002506)
|
Diffuse cerebral atrophy |
|
|
|
|
9 / 7739
|
|
38
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
39
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
40
|
(HPO:0005979)
|
Metabolic ketoacidosis |
|
|
|
|
4 / 7739
|
|
41
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
42
|
(HPO:0100275)
|
Diffuse cerebellar atrophy |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
44
|
(OMIM)
|
Breathing problems |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
46
|
(OMIM)
|
Mild hyperammonemia |
|
|
|
|
1 / 7739
|
|
47
|
(MedDRA:10071434)
|
Biotinidase deficiency |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
49
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|