Spastic paraparesis - deafness

General Information (adopted from Orphanet):

Synonyms, Signs: Wells-Jankovic syndrome
Number of Symptoms 21
OrphanetNr: 2815
OMIM Id: 312910
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
3
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
4
 (HPO:0000518) Cataract 454 / 7739
5
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
7
 (HPO:0000365) Hearing impairment 539 / 7739
8
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
9
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
10
 (HPO:0002313) Spastic paraparesis 33 / 7739
11
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
12
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
13
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
14
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
15
 (HPO:0001337) Tremor 200 / 7739
16
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
17
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
18
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
19
 (HPO:0003621) Juvenile onset 105 / 7739
20
 (OMIM) Normal values for very-long-chain fatty acids 1 / 7739
21
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: