Non-progressive cerebellar ataxia with intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: CANPMR
Number of Symptoms 31
OrphanetNr: 314647
OMIM Id: 614756
ICD-10: G11.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000463) Anteverted nares 305 / 7739
2
 (HPO:0000160) Narrow mouth rare [HPO:skoehler] 188 / 7739
3
 (HPO:0000343) Long philtrum 262 / 7739
4
 (HPO:0000414) Bulbous nose 63 / 7739
5
 (HPO:0002003) Large forehead rare [HPO:skoehler] 9 / 7739
6
 (HPO:0000276) Long face 109 / 7739
7
 (HPO:0100540) Palpebral edema rare [HPO:skoehler] 31 / 7739
8
 (HPO:0100539) Periorbital edema 8 / 7739
9
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
10
 (HPO:0000629) Periorbital fullness 13 / 7739
11
 (HPO:0000307) Pointed chin 45 / 7739
12
 (HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
13
 (HPO:0001256) Intellectual disability, mild 141 / 7739
14
 (HPO:0001251) Ataxia 413 / 7739
15
 (HPO:0001260) Dysarthria 329 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0002317) Unsteady gait 45 / 7739
18
 (HPO:0001263) Global developmental delay 853 / 7739
19
 (HPO:0000750) Delayed speech and language development 197 / 7739
20
 (HPO:0001310) Dysmetria 76 / 7739
21
 (HPO:0001319) Neonatal hypotonia 101 / 7739
22
 (OMIM) Abnormally implanted teeth (in 1 family) 1 / 7739
23
 (HPO:0400005) Short ear rare [HPO:skoehler] 1 / 7739
24
 (OMIM) Short ears 2 / 7739
25
 (HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
26
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
27
 (OMIM) Behavioral difficulties 2 / 7739
28
 (OMIM) Wide flat nose 1 / 7739
29
 (OMIM) Hippocampal atrophy (1 patient) 2 / 7739
30
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
31
 (OMIM) Dysmetria, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, ...
Clinical Description OMIM Thevenon et al. (2012) reported 2 unrelated families and an unrelated single patient with mild mental retardation and ataxia apparent from infancy. In the first family, 2 adult half sisters had mild mental retardation, attended schools for special ...
Molecular genetics OMIM Using array CGH, Thevenon et al. (2012) identified a heterozygous intragenic deletion in the CAMTA1 gene (611501.0001) in affected members of a large family with early-onset nonprogressive cerebellar ataxia and mild mental retardation. Another family with a similar ...