PIGL - phosphatidylinositol glycan anchor biosynthesis class L Gene

Chime Syndrome

Zunich Neuroectodermal Syndrome

Zunich-Kaye Syndrome

CHIME

Glycosylphosphatidylinositol Biosynthesis Defect 5

Gpibd5

Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome

Congenital Disorder Of Glycosylation Due To Pigl Deficiency

Neuroectodermal Dysplasia, Chime Type

Neuroectodermal Syndrome, Zunich Type

Pigl-Cdg

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome

Mabry Syndrome

Hyperphosphatasia With Mental Retardation

Mabry Syndrome

Hyperphosphatasia With Intellectual Disability Syndrome 1

HPMRS1

Glycosylphosphatidylinositol Biosynthesis Defect 2

Gpibd2

Hyperphosphatasia With Mental Retardation Syndrome

Hyperphosphatasia With Seizures And Neurologic Deficit

Hyperphosphatasia, With Mental Retardation Syndrome, Type 1

Hyperphosphatasia With Mental Retardation

MCAHS1

Glycosylphosphatidylinositol Biosynthesis Defect 3

Gpibd3

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1

Platelet-Type Bleeding Disorder 9

Glycoprotein Ia Deficiency

BDPLT9

Gp Ia Deficiency

Collagen Platelet Receptor Deficiency

Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency

Bleeding Disorder, Platelet Type 9

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2

Mddga2

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2

Pign-Cdg

Congenital Disorder Of Glycosylation Due To Pign Deficiency

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Mcahs1

Iridogoniodysgenesis Syndrome

Iridogoniodysgenesis, Type 2

Irid2

Iridogoniodysgenesis Type 2

ASGD4

Igds

Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant

Ihga

Irid 1

Irid 2

Iridogoniodysgenesis Type 1

Igds2

Iridogoniodysgenesis Syndrome 2

Iridogoniodysgenesis, Type 1

MCAHS2

Glycosylphosphatidylinositol Biosynthesis Defect 4

Developmental And Epileptic Encephalopathy 20

Epileptic Encephalopathy, Early Infantile, 20

Eiee20

Gpibd4

Early Infantile Epileptic Encephalopathy 20

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2

Mcahs Type 2

Dee20

Fccs

Ferro-Cerebro-Cutaneous Syndrome

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2

Congenital Muscular Dystrophy With Cataracts And Intellectual Disability

MDCCAID

MCAHS3

Glycosylphosphatidylinositol Biosynthesis Defect 7

Gpibd7

Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome

Congenital Disorder Of Glycosylation Due To Pigt Deficiency

Mcahs Type 3

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3

Pigt-Cdg

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

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

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