Spastic ataxia with congenital miosis

General Information (adopted from Orphanet):

Synonyms, Signs: MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA
SPASTIC ATAXIA WITH CONGENITAL MIOSIS
SPAX7
Number of Symptoms 22
OrphanetNr: 1182
OMIM Id: 108650
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant spastic ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000616) Miosis 11 / 7739
2
(HPO:0000549) Abnormal conjugate eye movement 3 / 7739
3
(HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
4
(HPO:0007728) Congenital miosis 1 / 7739
5
(HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
6
(HPO:0000615) Abnormality of the pupil Very frequent [Orphanet] 39 / 7739
7
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
8
(HPO:0002075) Dysdiadochokinesis 40 / 7739
9
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
10
(HPO:0002078) Truncal ataxia 41 / 7739
11
(HPO:0001260) Dysarthria 329 / 7739
12
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
13
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
14
(HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
15
(HPO:0002497) Spastic ataxia 13 / 7739
16
(HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
17
(HPO:0003487) Babinski sign 179 / 7739
18
(OMIM) Hyperreflexia, lower limbs more than upper limbs 1 / 7739
19
(OMIM) Lack of pupillary dilation in the dark 1 / 7739
20
(OMIM) Dysarthria, mild 2 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(OMIM) Delayed independent walking 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sanger Brown (1892) described a kindred with 21 persons in 4 generations who showed symmetric ataxia of gait and limb movement, dysarthria, and pyramidal signs in the limbs. Three had impaired pupillary reaction to light; at least 1 ...