SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY
CPSQ4, FORMERLY
SPG51
Number of Symptoms 39
OrphanetNr:
OMIM Id: 613744
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000154) Wide mouth 137 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000322) Short philtrum 130 / 7739
4
(HPO:0000280) Coarse facial features 189 / 7739
5
(HPO:0000307) Pointed chin 45 / 7739
6
(HPO:0002307) Drooling 43 / 7739
7
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
8
(HPO:0000297) Facial hypotonia 8 / 7739
9
(HPO:0000414) Bulbous nose 63 / 7739
10
(HPO:0000275) Narrow face 76 / 7739
11
(HPO:0000341) Narrow forehead 96 / 7739
12
(HPO:0003189) Long nose 20 / 7739
13
(HPO:0000431) Wide nasal bridge 290 / 7739
14
(HPO:0000639) Nystagmus 555 / 7739
15
(HPO:0000395) Prominent antihelix 6 / 7739
16
(HPO:0001258) Spastic paraplegia 97 / 7739
17
(HPO:0003487) Babinski sign 179 / 7739
18
(HPO:0001250) Seizures 1245 / 7739
19
(HPO:0010864) Intellectual disability, severe 120 / 7739
20
(HPO:0001347) Hyperreflexia 363 / 7739
21
(HPO:0001263) Global developmental delay 853 / 7739
22
(HPO:0002510) Spastic tetraplegia 54 / 7739
23
(HPO:0001762) Talipes equinovarus 309 / 7739
24
(HPO:0001371) Flexion contracture 220 / 7739
25
(HPO:0004322) Short stature 1232 / 7739
26
(HPO:0001319) Neonatal hypotonia 101 / 7739
27
(HPO:0003199) Decreased muscle mass 27 / 7739
28
(OMIM) Shy behavior 1 / 7739
29
(OMIM) Hypotonia, neonatal and later 1 / 7739
30
(OMIM) Decreased muscle mass in the thighs 1 / 7739
31
(HPO:0001272) Cerebellar atrophy 197 / 7739
32
(OMIM) Diffuse white matter loss 1 / 7739
33
(OMIM) Pointed, prominent chin 2 / 7739
34
(OMIM) Amicable behavior 1 / 7739
35
(OMIM) Long narrow face 11 / 7739
36
(OMIM) Stereotypic laughter 3 / 7739
37
(HPO:0002119) Ventriculomegaly 253 / 7739
38
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
39
(OMIM) Lack of speech development 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic paraplegia-51 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 Moreno-De-Luca et al., 2011).
Clinical Description OMIM Moreno-De-Luca et al. (2011) reported a consanguineous Palestinian Jordanian family in which 2 sibs had spastic quadriplegia. Both sibs presented at birth with microcephaly and hypotonia, followed by delayed psychomotor development. The sister was more severely affected, developing ...
Molecular genetics OMIM In 2 sibs, born of consanguineous Palestinian Jordanian parents, with spastic quadriplegia, Moreno-De-Luca et al. (2011) identified a homozygous 192-kb deletion on chromosome 15q21.2 (Chr15: 48,835,480-49,028,171, NCBI36) that included the 5-prime end of the AP4E1 gene (607244) and ...