SLC35A2-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG2M
CDGIIm
Congenital disorder of glycosylation type IIm
CDG IIm
Congenital disorder of glycosylation type 2m
CDG-IIm
CDG syndrome type IIm
CDG syndrome type 2m
Number of Symptoms 32
OrphanetNr: 356961
OMIM Id: 300896
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[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 multiple glycosylation
 -Rare genetic disease
Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
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:0000280) Coarse facial features 189 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0012471) Thick vermilion border 115 / 7739
4
 (HPO:0000194) Open mouth 70 / 7739
5
 (HPO:0000574) Thick eyebrow 96 / 7739
6
 (HPO:0000431) Wide nasal bridge 290 / 7739
7
 (HPO:0000639) Nystagmus 555 / 7739
8
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
12
 (HPO:0002521) Hypsarrhythmia 43 / 7739
13
 (HPO:0002020) Gastroesophageal reflux rare [HPO:skoehler] 101 / 7739
14
 (HPO:0001928) Abnormality of coagulation 44 / 7739
15
 (HPO:0001892) Abnormal bleeding 85 / 7739
16
 (HPO:0002719) Recurrent infections 107 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0001324) Muscle weakness 859 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
22
 (OMIM) Dysmorphic features 6 / 7739
23
 (HPO:0002059) Cerebral atrophy 171 / 7739
24
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
25
 (OMIM) Loss of galactose and sialic acid from multiple branches of complex type N-glycans 1 / 7739
26
 (HPO:0001442) Somatic mosaicism 7 / 7739
27
 (OMIM) Small cerebellum 6 / 7739
28
 (OMIM) Shortened extremities 1 / 7739
29
 (OMIM) Acute nephrotic syndrome (1 patient) 1 / 7739
30
 (OMIM) Abnormal serum transferrin pattern 1 / 7739
31
 (OMIM) Ocular flutter 2 / 7739
32
 (HPO:0012448) Delayed myelination 51 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ng et al. (2013) reported 2 unrelated boys and an unrelated girl with developmental delay, hypotonia, variable ocular anomalies, and variable brain malformations associated with an unusual serum transferrin profile consistent with a congenital disorder of glycosylation. Other ...
Molecular genetics OMIM In 3 unrelated patients with congenital disorder of glycosylation type II, Ng et al. (2013) identified 3 different de novo mutations in the SLC35A2 gene. Two boys carried a hemizygous mutation in the somatic mosaic state (314375.0001 and ...