Intellectual deficiency - hypotonia - spasticity - sleep disorder

General Information (adopted from Orphanet):

Synonyms, Signs: MRT37
Number of Symptoms 14
OrphanetNr: 356996
OMIM Id: 615493
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Symptom Information: Sort by abundance 

1
(HPO:0001257) Spasticity 251 / 7739
2
(HPO:0000752) Hyperactivity 140 / 7739
3
(HPO:0001327) Photomyoclonic seizures 125 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
6
(HPO:0002342) Intellectual disability, moderate 37 / 7739
7
(HPO:0000718) Aggressive behavior 109 / 7739
8
(HPO:0002360) Sleep disturbance 113 / 7739
9
(HPO:0010547) Muscle flaccidity 466 / 7739
10
(HPO:0001324) Muscle weakness 859 / 7739
11
(HPO:0001252) Muscular hypotonia 990 / 7739
12
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
(OMIM) Teeth grinding 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Iqbal et al. (2013) reported 3 sibs, born of consanguineous Pakistani parents, with moderate intellectual disability (IQ less than 50). The patients were 25, 22, and 18 years of age at the time of the report. All had ...
Molecular genetics OMIM In 3 Pakistani sibs, born of consanguineous parents, with MRT37 and behavioral abnormalities, Iqbal et al. (2013) identified a homozygous frameshift mutation in the ANK3 gene (600465.0001). The mutation, which was found by homozygosity mapping and whole-exome sequencing ...