Nervous System Diseases | Page 1

1 Diseases

12q14 microdeletion syndrome 15q13.3 microdeletion syndrome 15q24 microdeletion syndrome

2 Diseases

22q11.2 deletion syndrome 22q13.3 deletion syndrome 2-methyl-3-hydroxybutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2q23.1 microdeletion syndrome 2q37 deletion syndrome

3 Diseases

3-alpha hydroxyacyl-CoA dehydrogenase deficiency 3MC syndrome

4 Diseases

48,XXXY syndrome 48,XYYY 49, XXXXY syndrome

5 Diseases

5q14.3 microdeletion syndrome

6 Diseases

6-pyruvoyl-tetrahydropterin synthase deficiency

A Diseases

Aarskog syndrome Abetalipoproteinemia Absence of septum pellucidum Aceruloplasminemia Acrocallosal syndrome, Schinzel type Acrofacial dysostosis Catania type Acrofacial dysostosis Rodriguez type Acute cholinergic dysautonomia Acute disseminated encephalomyelitis Acute intermittent porphyria ADCY5-related dyskinesia Adenosine monophosphate deaminase 1 deficiency Adenylosuccinase deficiency Adie syndrome Adrenomyeloneuropathy Adult-onset nemaline myopathy Adult polyglucosan body disease Advanced sleep phase syndrome, familial Agnosia Aicardi-Goutieres syndrome Aicardi syndrome AIDS Dementia Complex Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus Albinism deafness syndrome Alexander disease ALG11-CDG (CDG-Ip) ALG12-CDG (CDG-Ig) ALG13-CDG ALG1-CDG (CDG-Ik) ALG2-CDG (CDG-Ii) ALG3-CDG (CDG-Id) ALG6-CDG (CDG-Ic) ALG8-CDG (CDG-Ih) ALG9-CDG (CDG-IL) Al Gazali Aziz Salem syndrome Allan-Herndon-Dudley syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome Alopecia epilepsy oligophrenia syndrome of Moynahan Alopecia, epilepsy, pyorrhea, mental subnormality Alopecia-intellectual disability syndrome Alpers syndrome Alpha-ketoglutarate dehydrogenase deficiency Alpha-mannosidosis Alpha-thalassemia x-linked intellectual disability syndrome Alternating hemiplegia of childhood Alzheimer disease type 4 Alzheimer's disease without neurofibrillary tangles Aminoacylase 1 deficiency Aminolevulinate dehydratase deficiency porphyria Amish lethal microcephaly Amish Nemaline Myopathy Amyloid neuropathy Amyopathic dermatomyositis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 Amyotrophic lateral sclerosis type 6 Anaplastic astrocytoma Anaplastic ganglioglioma Anaplastic oligodendroglioma Andermann syndrome Andersen-Tawil syndrome Anemia sideroblastic and spinocerebellar ataxia Anencephaly Angioma hereditary neurocutaneous Aniridia - ptosis - intellectual disability - familial obesity Aniridia renal agenesis psychomotor retardation Antisynthetase syndrome Aortic arch anomaly - peculiar facies - intellectual disability Apraxia Arachnoid cysts Arachnoiditis Aromatic L-amino acid decarboxylase deficiency Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay Arthrogryposis multiplex congenita, distal, X-linked Arthrogryposis renal dysfunction cholestasis syndrome Arts syndrome Aspartylglycosaminuria Ataxia - hypogonadism - choroidal dystrophy Ataxia telangiectasia Ataxia with oculomotor apraxia type 1 Ataxia with Oculomotor Apraxia Type 2 Ataxia with oculomotor apraxia type 4 Ataxia with vitamin E deficiency Atelosteogenesis type 2