SUOX - sulfite oxidase Gene

Sulfite Oxidase Deficiency

Sulfocysteinuria

Isolated Sulfite Oxidase Deficiency

ISOD

Encephalopathy Due To Sulfite Oxidase Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency

Mocod

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase

Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency

Deficiency Of Molybdenum Cofactor

Deficiency, Molybdenum Cofactor

Familial Ectopia Lentis

Ectopia Lentis

Ectopia Lentis Syndrome

Lens Subluxation

Iel

Congenital Ectopia Lentis

Subluxation Of Lens

Ectopia Lentis, Isolated

Ectopia Lentis Isolated

Xanthine Dehydrogenase Deficiency

Xdh Deficiency

Xanthine Oxidase Deficiency

XAN1

Xanthinuria Type 1

Type 1 Xanthinuria

Xanthinuria Type I

Xo Deficiency

Xor Deficiency

Xanthine Oxidoreductase Deficiency

Xanthinuria 1

Xanthic Urolithiasis

Urolithiasis

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus

ECTOL1

Ectopia Lentis, Familial

Autosomal Dominant Isolated Ectopia Lentis 1

ECTOL2

Ectopia Lentis, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Ectopia Lentis 2

Autosomal Recessive Isolated Ectopia Lentis

Ectopia Lentis, Isolated Autosomal Recessive

Ectopia Lentis, Isolated Autosomal Recessive, Type 2

MOCODA

Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A

Molybdenum Cofactor Deficiency A

Molybdenum Cofactor Deficiency Type A

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A

Mocod Type A

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of

Molybdenum Cofactor Deficiency Complementation Group A

Molybdenum Cofactor Deficiency, Type A

Deficiency, Molybdenum Cofactor, Complementation Group A

Ethylmalonic Encephalopathy

EE

Epema Syndrome

Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Ethe1 Deficiency

Eme

Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

MOCODB

Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B

Molybdenum Cofactor Deficiency B

Molybdenum Cofactor Deficiency Type B

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B

Mocod Type B

Molybdenum Cofactor Deficiency Complementation Group B

Deficiency, Molybdenum Cofactor, Complementation Group B

DEE21

Epileptic Encephalopathy, Early Infantile, 21

Eiee21

Developmental And Epileptic Encephalopathy, 21

Early Infantile Epileptic Encephalopathy 21

Encephalopathy, Epileptic, Early Infantile, Type 21

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

HLCS DEFICIENCY

Early-Onset Multiple Carboxylase Deficiency

Biotin- Ligase Deficiency

Neonatal Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency, Neonatal Form

Multiple Carboxylase Deficiency, Early Onset

Multiple Carboxylase Deficiency - Neonatal Onset

Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Combined Carboxylase Deficiency

Infantile Multiple Carboxylase Deficiency

Biotin-Responsive Mcd

Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Mcd

Mcd Neonatal Form

MOCODC

Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C

Molybdenum Cofactor Deficiency C

Molybdenum Cofactor Deficiency Type C

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C

Mocod Type C

Molybdenum Cofactor Deficiency Complementation Group C

Deficiency, Molybdenum Cofactor, Complementation Group C

Pyridoxine-Dependent Epilepsy

PDE

Pyridoxine Dependency With Seizures

Vitamin B6-Dependent Seizures

EPD

Aasa Dehydrogenase Deficiency

Antiquitin Deficiency

Pyridoxine Dependency

Glutamate Decarboxylase Deficiency

Pyridoxine-Dependent Seizures

Deficiency Of Glutamate Decarboxylase

Neurotic Derealization

Depersonalization

Depersonalization/Derealization Disorder

Depersonalisation-Derealization Syndrome

Depersonalisation Disorder

Depersonalisation Neurosis

Depersonalisation Syndrome

Feeling Of Unreality

Feels Own Self Is Unreal

Neurotic State With Depersonalisation

Neurotic State With Depersonalization Episode

Hyperlysinemia

Lysine Intolerance

Alpha-Aminoadipic Semialdehyde Synthase Deficiency

Lysine:Alpha-Ketoglutarate Reductase Deficiency

L-Lysine:Nad-Oxido-Reductase Deficiency

Lysine Alpha-Ketoglutarate Reductase Deficiency

Alpha-Aminoadipic Semialdehyde Deficiency Disease

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

Saccharopinuria

Hyperlysinemia Type I

Hyperlysinemias

L-Lysine Nad-Oxido-Reductase Deficiency

Familial Hyperlysinemia

Saccharopine Dehydrogenase Deficiency Disease

Hyperlysinemia, 1

HYPLYS1

Saccharopine Dehydrogenase Deficiency

Late-Onset Multiple Carboxylase Deficiency

BTD DEFICIENCY

Multiple Carboxylase Deficiency, Late-Onset

Multiple Carboxylase Deficiency, Juvenile-Onset

Juvenile-Onset Multiple Carboxylase Deficiency

Biotin Deficiency

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Deficiency Of Biotinidase

Biot

Carboxylase Deficiency, Multiple, Late-Onset

Late-Onset Mcd

Mcd Juvenile Form

Biotin Deficiency Disease

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Psat Deficiency

PSATD

Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

Psat Deficiency, Infantile/Juvenile Form

Deficiency, Phosphoserine Aminotransferase

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

Mcd

Holocarboxylase Synthetase Deficiency

Guanidinoacetate Methyltransferase Deficiency

Gamt Deficiency

Creatine Deficiency Syndrome Due To Gamt Deficiency

Deficiency Of Guanidinoacetate Methyltransferase

CCDS2

Guanidinoacetate Methyltransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 2

Language Development Disorders

Infantile Hemiplegia

Postnatal Infantile Hemiplegia

Hemiplegia, Infantile

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Dpd Deficiency

Familial Pyrimidinemia

Hereditary Thymine-Uraciluria

Dihydropyrimidinuria

Dpyd Deficiency

Thymine-Uraciluria, Hereditary

Pyrimidinemia, Familial

5-Fluorouracil Toxicity

Dihydrouracil Dehydrogenase Deficiency

Familial Pyrimidinaemia

Thymine-Uracilurea

Familial Pyrimidemia

Pyrimidinemia Familial

DPYDD

Bifunctional Peroxisomal Enzyme Deficiency

17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency

Dbp Deficiency

Peroxisomal Bifunctional Enzyme Deficiency

Pbfe Deficiency

Bifunctional Enzyme Deficiency

Pseudo-Zellweger Syndrome

Zellweger-Like Syndrome

DBPD

Protein Deficiency, D-Bifunctional

Subluxation Of Lens

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum 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

Congenital Neurologic Anomaly

Congenital Nervous System Disorder