SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 5, FORMERLY
CPSQ5, FORMERLY
SPG47
Number of Symptoms 41
OrphanetNr:
OMIM Id: 614066
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:0000280) Coarse facial features 189 / 7739
2
(HPO:0000431) Wide nasal bridge rare [HPO:skoehler] 290 / 7739
3
(HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000341) Narrow forehead 96 / 7739
6
(HPO:0002705) High, narrow palate 308 / 7739
7
(HPO:0000322) Short philtrum 130 / 7739
8
(HPO:0000154) Wide mouth 137 / 7739
9
(HPO:0000414) Bulbous nose 63 / 7739
10
(HPO:0000750) Delayed speech and language development 197 / 7739
11
(HPO:0002373) Febrile seizures 37 / 7739
12
(HPO:0001347) Hyperreflexia 363 / 7739
13
(HPO:0001332) Dystonia 197 / 7739
14
(HPO:0001260) Dysarthria 329 / 7739
15
(HPO:0001263) Global developmental delay 853 / 7739
16
(HPO:0010864) Intellectual disability, severe 120 / 7739
17
(HPO:0001250) Seizures 1245 / 7739
18
(HPO:0002515) Waddling gait 56 / 7739
19
(HPO:0003487) Babinski sign 179 / 7739
20
(HPO:0001258) Spastic paraplegia 97 / 7739
21
(HPO:0001257) Spasticity 251 / 7739
22
(HPO:0001761) Pes cavus 225 / 7739
23
(HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
24
(HPO:0002816) Genu recurvatum rare [HPO:skoehler] 30 / 7739
25
(HPO:0001763) Pes planus rare [HPO:skoehler] 176 / 7739
26
(HPO:0006487) Bowing of the long bones 95 / 7739
27
(HPO:0001822) Hallux valgus 70 / 7739
28
(HPO:0001765) Hammertoe 63 / 7739
29
(HPO:0001838) Rocker bottom foot 85 / 7739
30
(HPO:0002857) Genu valgum 144 / 7739
31
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
32
(HPO:0001319) Neonatal hypotonia 101 / 7739
33
(HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
34
(HPO:0002119) Ventriculomegaly 253 / 7739
35
(OMIM) Joint hyperlaxity 5 / 7739
36
(OMIM) Inability to walk unaided 1 / 7739
37
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
38
(OMIM) Stereotypic laughter 3 / 7739
39
(OMIM) Shy character 2 / 7739
40
(OMIM) Hypertonia later 3 / 7739
41
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).
Clinical Description OMIM Abou Jamra et al. (2011) reported a consanguineous Israeli Arab family (ID01) in which 3 sibs had severe mental retardation and spasticity. All presented at birth with microcephaly and muscular hypotonia, which later developed to hypertonia. Physical examination ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing of an Israeli Arab family with autosomal recessive mental retardation and spasticity, Abou Jamra et al. (2011) identified a homozygous truncating mutation in the AP4B1 gene (607245.0001). The authors concluded ...