BCKDK - branched chain keto acid dehydrogenase kinase Gene

BCKDKD

Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

Bckdk Deficiency

Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency

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

CMTX6

Charcot-Marie-Tooth Disease X-Linked Dominant 6

Cmt6x

X-Linked Charcot-Marie-Tooth Disease Type 6

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6

Charcot-Marie-Tooth Neuropathy X-Linked 6

Charcot-Marie-Tooth Disease, X-Linked, Type 6

KOS

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Oculocerebrofacial Syndrome, Kaufman Type

Bpids

Blepharophimosis Ptosis Intellectual Disability Syndrome

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

Bpid Syndrome

Jansky-Bielschowsky Disease

Neuronal Ceroid Lipofuscinosis 2

CLN2

Lincl

Cln2 Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset

Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset

Cln2 Disease, Juvenile

Cln2 Disease, Late Infantile

Late-Infantile Batten Disease

Neuronal Ceroid Lipofuscinosis, Late-Infantile

Classic Late Infantile Ncl

Classic Late Infantile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset

Lipofuscinosis, Ceroid, Neuronal, Type 2

Late-Infantile Neuronal Ceroid Lipfuscinosis

Formiminoglutamic Aciduria

Formiminotransferase Deficiency

FIGLU-URIA

Arakawa Syndrome 1

Formiminoglutamic Acidemia

Formiminotransferase Cyclodeaminase Deficiency

Formiminotransferase Deficiency Syndrome

Ftcd Deficiency

Formiminoglutamicaciduria

Figluria

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12