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Term With Siblings |
Child Terms |
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46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
8q24.3 microdeletion syndrome
ALDH18A1-related de Barsy syndrome
ALG1-congenital disorder of glycosylation
ALG11-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
ALG2-congenital disorder of glycosylation
ALG3-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
ALG8-congenital disorder of glycosylation
ALG9-congenital disorder of glycosylation
alveolar capillary dysplasia with misalignment of pulmonary veins
arthrogryposis-renal dysfunction-cholestasis syndrome +
atrial conduction disease
atrial heart septal defect +
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal recessive cutis laxa type 2 +
B4GALT1-congenital disorder of glycosylation
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiac valvular dysplasia, X-linked
COG1-congenital disorder of glycosylation
COG4-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
congenital disorder of glycosylation, type 2v
congenital disorder of glycosylation, type IIbb
congenital disorder of glycosylation, type IIq
congenital disorder of glycosylation, type iit
congenital disorder of glycosylation, type IIw
congenital disorder of glycosylation, type IIz
congenital heart defects, multiple types, 3
congenital heart defects, multiple types, 5
congenital vertebral-cardiac-renal anomalies syndrome +
coronary artery disease, autosomal dominant 2
creatine transporter deficiency
cutis laxa, autosomal dominant 3
DDOST-congenital disorder of glycosylation
developmental and epileptic encephalopathy, 36
dextro-looped transposition of the great arteries +
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
DPAGT1-congenital disorder of glycosylation
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, spondylodysplastic type +
Ellis-van Creveld syndrome
encephalopathy due to sulfite oxidase deficiency +
familial atrial fibrillation +
familial atrioventricular septal defect +
familial bicuspid aortic valve
familial cardiomyopathy +
familial long QT syndrome +
familial retinal arterial macroaneurysm
familial sick sinus syndrome +
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes +
glycosylphosphatidylinositol biosynthesis defect 15
heart defects-limb shortening syndrome
hyperphosphatasia-intellectual disability syndrome
hypoplastic left heart syndrome +
inborn mitochondrial metabolism disorder +
inherited mitral valve disease +
Larsen-like syndrome, B3GAT3 type
leukocyte adhesion deficiency type II
LMNA-related cardiocutaneous progeria syndrome
MAN1B1-congenital disorder of glycosylation
mandibuloacral dysplasia +
MGAT2-congenital disorder of glycosylation MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).
MOGS-congenital disorder of glycosylation
MPI-congenital disorder of glycosylation
mucopolysaccharidosis-plus syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
patent ductus arteriosus 2
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
pericardial effusion, chronic
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
PGM1-congenital disorder of glycosylation
PMM2-congenital disorder of glycosylation
pontocerebellar hypoplasia type 1
progressive familial heart block +
pseudohypoparathyroidism +
pulmonary hypertension, primary, autosomal recessive
RFT1-congenital disorder of glycosylation
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
sinoatrial node dysfunction and deafness
SLC35A1-congenital disorder of glycosylation
SLC35A2-congenital disorder of glycosylation
SSR4-congenital disorder of glycosylation
sterol biosynthesis disorder +
structural congenital heart disease, multiple types - GATA4 +
STT3A-congenital disorder of glycosylation
STT3B-congenital disorder of glycosylation
supravalvular aortic stenosis
temtamy preaxial brachydactyly syndrome
TMEM165-congenital disorder of glycosylation
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
ventricular fibrillation, paroxysmal familial, type 1
ventricular septal defect +
ventricular tachycardia, familial +
Wiedemann-Rautenstrauch syndrome
XYLT1-congenital disorder of glycosylation
Zellweger spectrum disorders +
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| Synonyms |
| Exact Synonyms: |
CDG syndrome type IIa
;
CDG2A
;
MGAT2-CDG
;
N-acetylglucosaminyltransferase 2 deficiency
;
carbohydrate deficient glycoprotein syndrome type IIa
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congenital disorder of glycosylation type 2a
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| Related Synonyms: |
Alkuraya syndrome
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CDG 2A
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CDG IIa
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CDGS2
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MGAT2-CDG (CDG-IIa)
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carbohydrate-deficient glycoprotein syndrome type 2
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carbohydrate-deficient glycoprotein syndrome, type II
;
carbohydrate-deficient glycoprotein syndrome, type II, formerly
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carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly
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congenital disorder of glycosylation, type IIa
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| Alternate IDs: |
MONDO:0008908
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| Xrefs: |
DOID:0070253
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GARD:9828
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MEDGEN:443956
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MESH:C535752
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MIM:212066
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ORDO:79329
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SCTID:724142005
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UMLS:C2931008 |
| Definition Sources: |
Orphanet:79329 |
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