Cerebellar ataxia - ectodermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 1174
OMIM Id: 212835
ICD-10: G11.1
Q82.4
UMLs: C1859306
MeSH: C535350
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
3
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
4
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
5
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
6
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
7
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
8
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
11
 (HPO:0001761) Pes cavus Frequent [Orphanet] 225 / 7739
12
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
13
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
14
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
15
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
16
 (HPO:0001596) Alopecia 162 / 7739
17
 (OMIM) Normal intelligence 81 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baraitser et al. (1993) reported 2 brothers with ectodermal dysplasia involving primarily the teeth and hair who developed cerebellar ataxia in the early teens. Intelligence was normal. Baraitser et al. (1993) cited reports of this association by Rushton ...