CAD - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Gene

DEE50

Epileptic Encephalopathy, Early Infantile, 50

Eiee50

Developmental And Epileptic Encephalopathy, 50

Congenital Disorder Of Glycosylation, Type Iz, Formerly

Cdg1z, Formerly

Carbohydrate Deficient Glycoprotein Syndrome Type Iz

Cdg Syndrome Type Iz

Cdg-Iz

Congenital Disorder Of Glycosylation Type 1z

Early Infantile Epileptic Encephalopathy 50

Cdg1z

Congenital Disorder Of Glycosylation 1z

Encephalopathy, Epileptic, Early Infantile,, Type 50

Cdg Syndrome Type Iz

Cdg-Iz

Cdg1z

Carbohydrate Deficient Glycoprotein Syndrome Type Iz

Congenital Disorder Of Glycosylation Type 1z

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

Hereditary Orotic Aciduria

Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency

Uridine Monophosphate Synthase Deficiency

Umps Deficiency

Uridine Monophosphate Synthetase Deficiency

Orotic Aciduria I

Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency

Oprt And Odc Deficiency

Ump Synthase Deficiency

Orotic Aciduria Ii

Oroticaciduria 1

Orotic Aciduria Hereditary

Orotic Aciduria Type 1

Hereditary Orotic Aciduria Without Megaloblastic Anemia

Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency

Ump Synthtase Deficiency

Umps

Orotidylic Decarboxylase Deficiency

Orotic Aciduria 1

ORAC1

Aciduria, Orotic

Hereditary Orotic Aciduria, Type 1

Orotic Aciduria Nos

Orotaciduric Anaemia

Orotic Aciduria Anaemia

Orotic Aciduria Megaloblastic Anaemia

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

Encephalopathy, Developmental And Epileptic

Miller Syndrome

POADS

Genee-Wiedemann Syndrome

Postaxial Acrodysostosis

Genee-Wiedemann Acrofacial Dysostosis

Acrofacial Dysostosis, Genee-Wiedmann Type

Mandibulfacial Dysostosis With Postaxial Limb Anomalies

Gwafd

Poads Syndrome

Postaxial Acrofacial Dysostosis Syndrome

Wildervanck-Smith Syndrome

Acrofacial Dysostosis, Genee-Wiedemann Type

Mandibulofacial Dysostosis With Postaxial Limb Anomalies

Genée-Wiedemann Syndrome

Chromosome 11p Deletion Syndrome

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