Psychosis

syndrome OMIM 219080

Acth-Independent Macronodular Adrenal Hyperplasia

ev: IEA

syndrome OMIM 300100

Adrenoleukodystrophy

ev: TAS

syndrome OMIM 300100

Adrenomyeloneuropathy

ev: TAS

syndrome OMIM 137440

Amyloidosis, Cerebral, With Spongiform Encephalopathy

ev: TAS

disease OMIM 615032

Autism, Susceptibility To, 18

freq: 3/26 ev: PCS

syndrome OMIM 615483

Basal Ganglia Calcification, Idiopathic, 5

freq: 3/31 ev: PCS

syndrome OMIM 125310

Cadasil Syndrome

freq: 1/1 ev: PCS

syndrome OMIM 609285

Cap Myopathy 2

freq: 3/8 ev: PCS

syndrome OMIM 604121

Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

freq: 3/4 ev: PCS

syndrome OMIM 137440

Cerebral Amyloid Angiopathy, Prnp-Related

ev: TAS

syndrome OMIM 125310

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

freq: 1/1 ev: PCS

syndrome OMIM 200150

Chorea Acanthocytosis Syndrome

ev: IEA

syndrome OMIM 609425

Chromosome 3Q29 Deletion Syndrome

ev: TAS

syndrome OMIM 261600

Classical Phenylketonuria

ev: TAS

syndrome OMIM 218000

Corpus Callosum Agenesis Neuronopathy

ev: TAS

syndrome OMIM 201470

Deficiency of Butyryl-Coa Dehydrogenase

freq: 2/7 ev: PCS

syndrome OMIM 117300

Dementia, Familial Danish

ev: TAS

syndrome OMIM 300088

Epilepsy, Female-Restricted, With Mental Retardation (Disorder)

ev: IEA

syndrome OMIM 615005

Epilepsy, Nocturnal Frontal Lobe, 5

freq: HP:0040283 ev: PCS

syndrome OMIM 254780

Epilepsy, Progressive Myoclonic 2B

ev: IEA

syndrome OMIM 616640

Epilepsy, Progressive Myoclonic, 10

ev: TAS

syndrome OMIM 137440

Gerstmann-Straussler-Scheinker Disease

ev: TAS

syndrome OMIM 234500

Hartnup Disease

ev: TAS

syndrome OMIM 141500

Hemiplegic Migraine, Familial Type 1

ev: TAS

syndrome OMIM 277410

Homocystinuria, Cbld Type, Variant 1

freq: 1/1 ev: PCS

syndrome OMIM 261600

Hyperphenylalaninemia, Non-Pku Mild

ev: TAS

syndrome OMIM 213600

Idiopathic Basal Ganglia Calcification 1

ev: IEA

syndrome OMIM 271245

Infantile Onset Spinocerebellar Ataxia

ev: IEA

syndrome OMIM 618295

Intellectual Developmental Disorder, Autosomal Recessive 67

freq: 1/21 ev: PCS

syndrome OMIM 204200

Juvenile Neuronal Ceroid Lipofuscinosis

ev: IEA

syndrome OMIM 610253

Kleefstra Syndrome 1

freq: 14/104 ev: PCS

syndrome OMIM 254780

Lafora Disease

ev: IEA

syndrome OMIM 617964

Leukodystrophy, Hypomyelinating, 16

freq: 1/4 ev: PCS

syndrome OMIM 615889

Leukoencephalopathy, Progressive, With Ovarian Failure

freq: 1/6 ev: PCS

syndrome OMIM 309520

Lujan Fryns Syndrome

ev: IEA

syndrome OMIM 152700

Lupus Erythematosus, Systemic

ev: IEA

syndrome OMIM 248000

Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive

freq: 2/2 ev: PCS

syndrome OMIM 613671

Mental Retardation, Anterior Maxillary Protrusion, And Strabismus

freq: 1/7 ev: PCS

syndrome OMIM 300558

Mental Retardation, X-Linked 30

freq: 1/5 ev: PCS

syndrome OMIM 300558

Mental Retardation, X-Linked 47

freq: 1/5 ev: PCS