MPDU1 - mannose-P-dolichol utilization defect 1 Gene

CDG1F

Cdg If

Cdgif

Congenital Disorder Of Glycosylation 1f

Mpdu1-Cdg

Cdg-If

Congenital Disorder Of Glycosylation Type If

Congenital Disorder Of Glycosylation If

Cdg Syndrome Type If

Carbohydrate Deficient Glycoprotein Syndrome Type If

Congenital Disorder Of Glycosylation Type 1f

Glycosylation, Congenital Disorder Of, Type If

Congenital Disorder Of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder Of Glycosylation, Type Is

Cdg1s

Congenital Disorder Of Glycosylation, Type Ie

CDG1E

Congenital Disorder Of Glycosylation Type 1e

DEE36

Eiee36

Cdg Is

Cdgis

Congenital Disorder Of Glycosylation Ie

Congenital Disorder Of Glycosylation 1e

Cdg-Is

Congenital Disorder Of Glycosylation Type Is

Developmental And Epileptic Encephalopathy, 36

Cdg Ie

Cdgie

Early Infantile Epileptic Encephalopathy 36

Alg13-Cdg

Cdg Syndrome Type Is

Congenital Disorder Of Glycosylation Type 1s

Dpm1-Cdg

Cdg Syndrome Type Ie

Cdg-Ie

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Congenital Disorder Of Glycosylation Type Ie

Dol-P-Mannosyltransferase Deficiency

Congenital Disorder Of Glycosylation 1s

Glycosylation, Congenital Disorder Of, Type I

Glycosylation, Congenital Disorder Of, Type Ie

Congenital Disorder Of Glycosylation Type 1a

Congenital Disorder Of Glycosylation, Type Iu

Dolichol Kinase Deficiency

CDG1M

Dk1 Deficiency

Cdg Im

Cdgim

Congenital Disorder Of Glycosylation Im

Congenital Disorder Of Glycosylation 1m

Dolk-Congenital Disorder Of Glycosylation

Dk1-Cdg

Cdg-Im

Congenital Disorder Of Glycosylation Type Im

Cdg Syndrome Type Im

Carbohydrate Deficient Glycoprotein Syndrome Type Im

Congenital Disorder Of Glycosylation Type 1m

Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency

Glycosylation, Congenital Disorder Of, Type Im

MCAHS4

Glycosylphosphatidylinositol Biosynthesis Defect 19

Gpibd19

Developmental And Epileptic Encephalopathy 77

Epileptic Encephalopathy, Early Infantile, 77

Dee77

Eiee77

Developmental And Epileptic Encephalopathy, 77

Early Infantile Epileptic Encephalopathy 77

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4

Cardiomyopathy, Familial Restrictive, 4

Dilated Cardiomyopathy 1kk

CMD1KK

Cardiomyopathy, Hypertrophic, 22

Cardiomyopathy, Dilated 1kk

Cardiomyopathy, Familial Hypertrophic 22

CMH22

Cardiomyopathy, Familial Restrictive 4

RCM4

Familial Hypertrophic Cardiomyopathy 22

Cardiomyopathy, Dilated, Type 1kk

Cardiomyopathy, Familial Hypertrophic, 22

Hypertrophic Cardiomyopathy 9

CMH9

Cardiomyopathy, Familial Hypertrophic 9

Cardiomyopathy, Hypertrophic, Familial, Type 9

Fifth Disease

Slapped Cheek Syndrome

Parvovirus B19 Infection

KHRZ

Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive

Intellectual Disability, Kahrizi Type

Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome

Epilepsy, Complex Partial

Complex Partial Epileptic Seizure

Epilepsy, Psychomotor

Psychomotor Epilepsy

CDG2H

Congenital Disorder Of Glycosylation Type Iih

Cdg Iih

Cdgiih

Carbohydrate Deficient Glycoprotein Syndrome Type Iih

Congenital Disorder Of Glycosylation Type 2h

Cog8-Cdg

Cdg-Iih

Cdgiidh

Cdg Syndrome Type Iih

Congenital Disorder Of Glycosylation 2h

Glycosylation, Congenital Disorder Of, Type Iih

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Viral Rash Nos

Virus Exanthema

Nonspecific Exanthematous Viral Infection

Nonspecific Viral Exanthem

Nonspecific Viral Rash

Viral Enanthema Nos

Viral Disease Characterised By Exanthem

Viral Exanthemata

Viral Exanthem, Unspecified

Viral Exanthema Nos

CDG2A

Congenital Disorder Of Glycosylation Type Iia

Cdg Iia

Cdgiia

Congenital Disorder Of Glycosylation Type 2a

Alkuraya Syndrome

Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii

Mgat2-Cdg

Cdg-Iia

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly

Cdgs2, Formerly

Cdgs2

Cdg Syndrome Type Iia

Carbohydrate Deficient Glycoprotein Syndrome Type Iia

N-Acetylglucosaminyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2a

Carbohydrate-Deficient Glycoprotein Syndrome Type Ii

Cdgs Type Ii

Carbohydrate-Deficient Glycoprotein Syndrome Type 2

Glycosylation, Congenital Disorder Of, Type Iia

CDG2I

Congenital Disorder Of Glycosylation Type Iii

Cdgiii

Carbohydrate Deficient Glycoprotein Syndrome Type Iii

Congenital Disorder Of Glycosylation Type 2i

Cog5-Cdg

Cdgiidi

Congenital Disorder Of Glycosylation 2i

Glycosylation, Congenital Disorder Of, Type Iii

Congenital Disorder Of Glycosylation, Type I-Iix

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Rippling Muscle Disease

Rmd

Lgmd1c

RMD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly

Lgmd1c, Formerly

Limb-Girdle Muscular Dystrophy Type 1c

Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency

Muscular Dystrophy, Limb-Girdle, Type Ic

Rippling Muscle Syndrome

Limb-Girdle Muscular Dystrophy 1c

Dystrophy, Muscular, Limb-Girdle, Type 1c

Disease, Muscle, Rippling, Type 2

Rippling Muscle Disease 1

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A