ALG13 - ALG13 UDP-N-acetylglucosaminyltransferase subunit Gene

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

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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

Cortical Visual Impairment

Central Visual Impairment

Visual Cortex Disorder

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Encephalopathy, Developmental And Epileptic

Congenital Myasthenic Syndrome 15

CMS15

Myasthenic Syndrome, Congenital, Without Tubular Aggregates

Cmswta

Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates

Congenital Myasthenic Syndrome 15 Without Tubular Aggregates

Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

SHMS

Pacs1-Related Syndrome

Mrd17

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 17

Autosomal Dominant Intellectual Disability-17

Autosomal Dominant Mental Retardation 17

Pacs1 Syndrome

Mental Retardation, Autosomal Dominant 17

CDG2N

Slc39a8-Cdg

Cdg Iin

Congenital Disorder Of Glycosylation Type Iin

Cdgiin

Carbohydrate Deficient Glycoprotein Syndrome Type Iin

Cdg Syndrome Type Iin

Congenital Disorder Of Glycosylation Type 2n

Cdg-Iin

Cdgiidn

Slc39a8 Deficiency

Congenital Disorder Of Glycosylation 2n

Glycosylation, Congenital Disorder Of, Type Iin

CDG2P

Tmem199-Cdg

Cdg Iip

Congenital Disorder Of Glycosylation Type Iip

Cdgiip

Carbohydrate Deficient Glycoprotein Syndrome Type Iip

Cdg Syndrome Type Iip

Congenital Disorder Of Glycosylation Type 2p

Cdg-Iip

Cdgiidp

Congenital Disorder Of Glycosylation 2p

CDG2K

Congenital Disorder Of Glycosylation Type Iik

Cdg Iik

Cdgiik

Carbohydrate Deficient Glycoprotein Syndrome Type Iik

Cdg Syndrome Type Iik

Congenital Disorder Of Glycosylation Type 2k

Tmem165-Cdg

Cdg-Iik

Cdgiidk

Congenital Disorder Of Glycosylation 2k

Glycosylation, Congenital Disorder Of, Type Iik

CDG2O

Ccdc115-Cdg

Cdg Iio

Congenital Disorder Of Glycosylation Type Iio

Cdgiio

Carbohydrate Deficient Glycoprotein Syndrome Type Iio

Cdg Syndrome Type Iio

Congenital Disorder Of Glycosylation Type 2o

Cdg-Iio

Cdgiido

Congenital Disorder Of Glycosylation 2o

Glycosylation, Congenital Disorder Of, Type Iio

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Cid Due To Pgm3 Deficiency

Combined Immunodeficiency Due To Pgm3 Deficiency

Pgm3-Cdg

Pgm3-Related Congenital Disorder Of Glycosylation

IMD23

Immunodeficiency With Hyper Ige And Cognitive Impairment

Immunodeficiency-Vasculitis-Myoclonus Syndrome

Ivms

Phosphoglucomutase 3 Deficiency

Phosphoglucomutase Deficiency Type 3

Pgm3-Congenital Disorder Of Glycosylation

Agm1 Deficiency

Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1

Deficiency Of Phosphoglucomutase 3

Pgm3 Deficiency

Immunodeficiency, Type 23

Deficiency Of N-Glycanase 1

Ngly1-Cddg

Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome

Ngly1 Deficiency

Congenital Disorder Of Deglycosylation

Congenital Disorder Of Glycosylation Type Iv

Congenital Disorder Of Deglycosylation

Cddg

Congenital Disorder Of Glycosylation Type Iv

Cdg1v

X-Linked Angelman-Like Syndrome

X-Linked Intellectual Disability, South African Type

X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome

Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome

Mental Retardation, X-Linked Syndromic, Christianson Type

Mrxsch

Angelman-Like Syndrome X-Linked

Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome

Intellectual Disability X-Linked Syndromic Christianson Type

Mrxs Christianson

X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy

Angelman-Like Syndrome, X-Linked

Intellectual Deficit, X-Linked, South African Type

Mental Retardation X-Linked, South African Type

Mental Retardation, X-Linked, Syndromic, Christianson Type

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Familial Neonatal Seizures

Bfns

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Seizures

Epilepsy Benign Neonatal Familial

Familial Benign Neonatal Convulsions

Benign Neonatal Familial Convulsions

Familial Benign Neonatal Epilepsy

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures