Intellectual disability-strabismus syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRT36
Number of Symptoms 12
OrphanetNr: 363528
OMIM Id: 615286
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000565) Esotropia 58 / 7739
3
 (HPO:0000486) Strabismus 576 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001508) Failure to thrive 454 / 7739
6
 (HPO:0010547) Muscle flaccidity 466 / 7739
7
 (HPO:0001252) Muscular hypotonia 990 / 7739
8
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
9
 (HPO:0001324) Muscle weakness 859 / 7739
10
 (HPO:0003593) Infantile onset 249 / 7739
11
 (OMIM) Mild brain anomalies on MRI (e.g., dilated ventricles) (in some patients) 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alazami et al. (2013) reported 8 consanguineous Arab families from various geographic regions in which multiple individuals had mental retardation that was often associated with esotropia and failure to thrive. Other more variable features included microcephaly, hypotonia, and ...
Molecular genetics OMIM In affected members of 8 consanguineous Arab families with autosomal recessive mental retardation, Alazami et al. (2013) identified a homozygous mutation in the ADAT3 gene (V128M; 615302.0001). Molecular modeling indicated that the mutation occurs in a hook that ...