STT3B-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1X
CDGIx
CDG Ix
Number of Symptoms 19
OrphanetNr: 370924
OMIM Id: 615597
ICD-10: E77.8
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 epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Disorder of protein N-glycosylation
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000054) Micropenis 257 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000648) Optic atrophy 238 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0011968) Feeding difficulties 240 / 7739
10
 (HPO:0001410) Decreased liver function 59 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
13
 (HPO:0001873) Thrombocytopenia 224 / 7739
14
 (HPO:0002880) Respiratory difficulties 15 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0003577) Congenital onset 133 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739
18
 (HPO:0003819) Death in childhood 42 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shrimal et al. (2013) reported a boy, born of consanguineous Iraqi parents, with a congenital disorder of glycosylation. He had severe developmental delay and congenital anomalies, including microcephaly, failure to thrive, lack of visual tracking and optic nerve ...
Molecular genetics OMIM In a boy, born of consanguineous Iraqi parents, with congenital disorder of glycosylation type Ix, Shrimal et al. (2013) identified a homozygous mutation in the STT3B gene (608605.0001). The mutation was found by homozygosity mapping and candidate gene ...