MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615599
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0003487) Babinski sign 179 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002465) Poor speech 31 / 7739
7
 (HPO:0001347) Hyperreflexia 363 / 7739
8
 (HPO:0001257) Spasticity 251 / 7739
9
 (HPO:0001760) Abnormality of the foot rare [HPO:skoehler] 96 / 7739
10
 (HPO:0001647) Bicuspid aortic valve rare [HPO:skoehler] 34 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (HPO:0012448) Delayed myelination 51 / 7739
13
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: