MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615637
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:0000268) Dolichocephaly 144 / 7739
2
 (HPO:0000455) Broad nasal tip 67 / 7739
3
 (HPO:0002007) Frontal bossing 366 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
 (HPO:0000303) Mandibular prognathia 179 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0000733) Stereotypy 58 / 7739
9
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
10
 (HPO:0000739) Anxiety 67 / 7739
11
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
12
 (HPO:0001252) Muscular hypotonia 990 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: