MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3

General Information (adopted from Orphanet):

Synonyms, Signs: MRT3
Number of Symptoms 12
OrphanetNr:
OMIM Id: 608443
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000338) Hypomimic face 8 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
4
 (HPO:0010864) Intellectual disability, severe 120 / 7739
5
 (HPO:0000736) Short attention span 16 / 7739
6
 (HPO:0002546) Incomprehensible speech 2 / 7739
7
 (HPO:0000752) Hyperactivity 140 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (HPO:0003621) Juvenile onset 105 / 7739
10
 (OMIM) Easily frustrated 2 / 7739
11
 (OMIM) Limited verbal comprehension 1 / 7739
12
 (OMIM) Speech limited to single word or no words 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Basel-Vanagaite et al. (2003) studied nonsyndromic mental retardation in 4 consanguineous families of Israeli-Arab origin with 10 affected and 24 unaffected members. All families originated from the same small village and had the same family name. Basel-Vanagaite et ...
Molecular genetics OMIM In 9 consanguineous Israeli-Arab families with nonsyndromic mental retardation from the same village and with the same family name, Basel-Vanagaite et al. (2006) analyzed 14 candidate genes located in a haplotype-defined critical region on chromosome 19p13.12. Homozygosity for ...