ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 32
OrphanetNr:
OMIM Id: 270500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000505) Visual impairment 297 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0000648) Optic atrophy 238 / 7739
4
(HPO:0007663) Reduced visual acuity 100 / 7739
5
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
6
(HPO:0000407) Sensorineural hearing impairment variable [HPO:skoehler] 524 / 7739
7
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
8
(HPO:0002497) Spastic ataxia 13 / 7739
9
(HPO:0002312) Clumsiness 28 / 7739
10
(HPO:0007178) Motor polyneuropathy 31 / 7739
11
(HPO:0001257) Spasticity 251 / 7739
12
(HPO:0001347) Hyperreflexia 363 / 7739
13
(HPO:0001310) Dysmetria 76 / 7739
14
(HPO:0002136) Broad-based gait 30 / 7739
15
(HPO:0009830) Peripheral neuropathy variable [HPO:skoehler] 206 / 7739
16
(HPO:0003487) Babinski sign 179 / 7739
17
(HPO:0011448) Ankle clonus 31 / 7739
18
(HPO:0001251) Ataxia 413 / 7739
19
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
20
(HPO:0001337) Tremor 200 / 7739
21
(HPO:0001260) Dysarthria 329 / 7739
22
(HPO:0001249) Intellectual disability 1089 / 7739
23
(HPO:0002370) Poor coordination 15 / 7739
24
(HPO:0001263) Global developmental delay 853 / 7739
25
(HPO:0002650) Scoliosis 705 / 7739
26
(OMIM) Poor vibratory sense 1 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(HPO:0003621) Juvenile onset 105 / 7739
29
(OMIM) Upper limbs affected 1 / 7739
30
(HPO:0001317) Abnormality of the cerebellum 36 / 7739
31
(HPO:0003676) Progressive disorder 148 / 7739
32
(OMIM) Abnormal EEG activity during sleep 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy (Hogan and Bauman, 1977).
Clinical Description OMIM Hogan and Bauman (1977) reported 4 unrelated patients with early childhood onset of a progressive neurologic disorder characterized by delayed psychomotor development, spastic ataxia affecting the upper and lower limbs, and later onset of nystagmus and dysarthria. All ...