Early-onset X-linked optic atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: OPTIC ATROPHY, X-LINKED
OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET
OPA2
Non-Leber type optic atrophy with early-onset
Optic atrophy type 2
Number of Symptoms 16
OrphanetNr: 98890
OMIM Id: 311050
ICD-10: H47.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked recessive optic atrophy
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 238 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0001270) Motor delay 322 / 7739
4
 (HPO:0007083) Hyperactive patellar reflex 4 / 7739
5
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
6
 (HPO:0003438) Absent Achilles reflex 9 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0003487) Babinski sign 179 / 7739
10
 (HPO:0001260) Dysarthria 329 / 7739
11
 (HPO:0001265) Hyporeflexia 208 / 7739
12
 (HPO:0001337) Tremor 200 / 7739
13
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
14
 (OMIM) Hyperactive knee jerks 1 / 7739
15
 (OMIM) Abnormal tandem gait 1 / 7739
16
 (OMIM) Early onset optic atrophy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: