SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY
CPSQ3, FORMERLY
SPG50
Number of Symptoms 20
OrphanetNr:
OMIM Id: 612936
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002307) Drooling 43 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000486) Strabismus 576 / 7739
4
(HPO:0003487) Babinski sign 179 / 7739
5
(HPO:0002200) Pseudobulbar signs 15 / 7739
6
(HPO:0010864) Intellectual disability, severe 120 / 7739
7
(HPO:0001347) Hyperreflexia 363 / 7739
8
(HPO:0002510) Spastic tetraplegia 54 / 7739
9
(HPO:0001276) Hypertonia 317 / 7739
10
(HPO:0001181) Adducted thumb 31 / 7739
11
(HPO:0001762) Talipes equinovarus 309 / 7739
12
(HPO:0001319) Neonatal hypotonia 101 / 7739
13
(MedDRA:10072731) White matter lesion 7 / 7739
14
(HPO:0001272) Cerebellar atrophy 197 / 7739
15
(HPO:0002119) Ventriculomegaly 253 / 7739
16
(OMIM) Decreased myelin 1 / 7739
17
(OMIM) Lack of speech development 20 / 7739
18
(HPO:0002171) Gliosis 48 / 7739
19
(OMIM) Prominent jaw reflex 1 / 7739
20
(OMIM) Neuroaxonal abnormalities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).
Clinical Description OMIM Verkerk et al. (2009) reported a consanguineous Moroccan family in which 5 sibs had spastic quadriplegic cerebral palsy and severe mental retardation. All 5 presented postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking, ...
Molecular genetics OMIM By linkage analysis, followed by candidate gene sequencing, of a consanguineous Moroccan family with spastic paraplegia, Verkerk et al. (2009) identified a homozygous mutation in the AP4M1 gene (602296.0001). Verkerk et al. (2009) postulated that the genetic defect ...