Autism spectrum disorder-epilepsy-arthrogryposis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SLC35A3-CDG
AMRS
Number of Symptoms 21
OrphanetNr: 370943
OMIM Id: 615553
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: Congenital disorder of glycosylation with developmental anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Disorder of protein N-glycosylation
 -Rare genetic disease
Distal arthrogryposis
 -Rare developmental defect during embryogenesis
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Rare disease with autism
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000308) Microretrognathia 78 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0007270) Atypical absence seizures 3 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0000729) Autistic behavior 27 / 7739
8
 (HPO:0002827) Hip dislocation 94 / 7739
9
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
10
 (HPO:0100490) Camptodactyly of finger 212 / 7739
11
 (HPO:0004976) Knee dislocation 6 / 7739
12
 (HPO:0001371) Flexion contracture 220 / 7739
13
 (HPO:0010547) Muscle flaccidity 466 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
 (OMIM) Delayed fine motor skills 1 / 7739
18
 (OMIM) Dysplasia of the acetabulae 1 / 7739
19
 (OMIM) Deviation of the distal phalanges 1 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Swan-neck deformities of the distal phalanges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Edvardson et al. (2013) reported a large kindred of Ashkenazi Jewish descent in which 8 individuals had arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Limb malformations were detected in utero at midgestation, but all 8 were born ...
Molecular genetics OMIM In 8 individuals from an Ashkenazi Jewish family with arthrogryposis, mental retardation, and seizures, Edvardson et al. (2013) identified compound heterozygous mutations in the SLC35A3 gene (605632.0001-605632.0002). The mutations were found by linkage analysis combined with whole-exome sequencing ...