Autosomal recessive spastic paraplegia type 18

General Information (adopted from Orphanet):

Synonyms, Signs: INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES
SPG18
IDMDC
Number of Symptoms 23
OrphanetNr: 209951
OMIM Id: 611225
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive complex spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000486) Strabismus 576 / 7739
3
 (HPO:0001288) Gait disturbance 318 / 7739
4
 (HPO:0006986) Upper limb spasticity 15 / 7739
5
 (HPO:0001344) Absent speech 57 / 7739
6
 (HPO:0001347) Hyperreflexia 363 / 7739
7
 (HPO:0001258) Spastic paraplegia 97 / 7739
8
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
9
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
10
 (HPO:0002061) Lower limb spasticity 56 / 7739
11
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
12
 (HPO:0003487) Babinski sign 179 / 7739
13
 (HPO:0001761) Pes cavus 225 / 7739
14
 (HPO:0002650) Scoliosis 705 / 7739
15
 (HPO:0002808) Kyphosis 289 / 7739
16
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
17
 (HPO:0007340) Lower limb muscle weakness 61 / 7739
18
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
19
 (HPO:0003676) Progressive disorder 148 / 7739
20
 (HPO:0003677) Slow progression 134 / 7739
21
 (OMIM) Delayed walking 13 / 7739
22
 (OMIM) Contractures, progressive, severe 1 / 7739
23
 (OMIM) Upper limb spasticity, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic paraplegia-18 is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by ...
Clinical Description OMIM Al-Yahyaee et al. (2006) reported 2 unrelated consanguineous Omani families with autosomal recessive complicated SPG. In 1 family (family B), 3 affected individuals presented with walking difficulties between ages 4 and 6 years. Physical examination showed lower limb ...
Molecular genetics OMIM In affected members of a consanguineous Turkish family with autosomal recessive intellectual disability, motor dysfunction, and contractures, Yildirim et al. (2011) identified a homozygous truncation mutation in the ERLIN2 gene (611605.0001). The mutation was found by linkage analysis ...