1
|
Myopathy, ptosis
|
Mitochondrial disease (CPEO)
|
609,286
|
2
|
Epilepsy, ophthalmoplegia, ptosis
|
Mitochondriopathy disease (ARPEO)
|
258,450
|
3
|
Myopathy, arthralgia, cognitive delay
|
Myoadenylate deaminase deficiency
|
615,511
|
4
|
Myopathy, ovary insufficiency, cognitive decline, palpebral ptosis
|
Mitochondrial disease (ovario leucodystrophy related to AARS2 variant)
|
615,889
|
5
|
Myopathy, respiratory insufficiency
|
Heterozygous for Pompe late-onset disease (2nd variant not found)
|
232,300
|
6
|
Myopathy, respiratory insufficiency
|
Pompe late-onset disease
|
232,300
|
7
|
Myopathy, ophthalmoplegia, ptosis
|
Mitochondrial disease (CPEO)
|
609,286
|
8
|
Pulmonary embolism
|
Homocystinuria due to CBS deficiency
|
236,200
|
9
|
Intestinal ischemic thrombosis, pulmonary embolism
|
Homocystinuria due to CBS deficiency
|
236,200
|
10
|
Myopathy, ptosis
|
Mitochondrial disease (KSS)
|
530,000
|
11
|
Biochemical hypermethioninemia, cognitive delay
|
Methionine adenosyltransferase I/III deficiency
|
250,850
|
12
|
Progressive myelopathy
|
X-linked AMN
|
300,100
|
13
|
Splenomegaly, liver cirrhosis, bone lesions
|
Niemann-Pick type B
|
607,616
|
14
|
Hypoglycemia, hyperammoniemia
|
HI/HA syndrome
|
606,762
|
15
|
Positive FHx for OTC
|
OTC deficiency
|
311,250
|
16
|
Positive FHx for CBS deficiency
|
Homocystinuria due to CBS deficiency
|
236,200
|
17
|
Positive FHx for CBS deficiency
|
Homocystinuria due to CBS deficiency
|
236,200
|
18
|
Positive FHx for CBS deficiency
|
Homocystinuria due to CBS deficiency
|
236,200
|
19
|
Positive FHx for CBS deficiency
|
Homocystinuria due to CBS deficiency
|
236,200
|
ID
|
Reason for referral
|
Other Genetic diagnosis
| |
20
|
Spastic paraparesis, cognitive delay
|
Spastic paraparesis related to SPG11 variant
|
604,360
|
21
|
Cerebral calcification, leukoencephalopathy
|
Nasu-Hakola syndrome (PLOSL)
|
618,193
|
22
|
Peripheric weakness, ataxia, ophthalmoplegia
|
Autosomal dominant spinocerebellar ataxia 5
|
600,224
|
23
|
Familial neuropathy, muscle weakness
|
Charcot-Marie Tooth related to LRSAM1 variant
|
614,436
|
24
|
Cognitive decline, peripheric neuropathy, polyglucosan bodies
|
Charcot-Marie Tooth related to HARS1 variant
|
616,625
|
ID
|
Reason for referral
|
Possibly related polymorphisms
| |
25
|
Mild elevation of homocysteine
|
MTHFR polymorphism (compound heterozygous)
|
NA
|
26
|
Mild elevation of homocysteine, venous thrombosis
|
MTHFR polymorphism (compound heterozygous)
|
NA
|
27
|
Recurrent pregnancy loss
|
MTHFR polymorphism (compound heterozygous)
|
NA
|