Neurology / Neuropediatrics

• Arthrogryposis, distal type 1 (sequence analysis of TPM2 gene) + info
   
• Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene) + info
   
• Arthrogryposis, distal type 2B (sequence analysis of TNNI2 gene) + info
   
• Arthrogryposis, distal type 2B (sequence analysis of TNNT3 gene) + info
   
• Arthrogryposis, mental retardation and seizures (sequence analysis of SLC35A3 gene) + info
   
• Asparaginesynthetase deficiency (sequence analysis of ASNS gene) + info
   
• Aspartylglucosaminuria (deletion/duplication analysis on AGA gene) + info
   
• Asperger syndrome, X-linked (deletion/duplication analysis on NLGN4X gene) + info
   
• Asperger syndrome, X-linked 1 (sequence analysis of NLGN3 gene) + info
   
• Asperger syndrome, X-linked 2 (sequence analysis of NLGN4X gene) + info
   
• Ataxia telangiectasia (sequencing and CNV analyses of ATM gene) + info
   
• Ataxia telangiectasia like disorder (sequence analysis of MRE11A gene) + info
   
• Ataxia with isolated vitamin E deficiency (sequence analysis of TTPA gene) + info
   
• Ataxia with oculomotor apraxia (sequence analysis of APTX gene) + info
   
• Ataxia, posterior column, with retinitis pigmentosa (sequence analysis of FLVCR1 gene) + info
   
• Ataxia-ocular apraxia 2 (AOA2, sequence analysis of SETX gene) + info
   
• Ataxia-oculomotor apraxia type 3 (sequence analysis of PIK3R5 gene) + info
   
• Ataxia-oculomotor apraxia type 4 (sequence analysis of PNKP gene) + info
   
• Atrioventricular septal defect 3 | Craniometaphyseal dysplasia | Oculodentodigital dysplasia | Palmoplantar keratoderma with congenital alopecia | Erythrokeratodermia variabilis | Syndactyly, type III | Hypoplastic left heart syndrome (sequence analysis o + info
   
• Attention deficit-hyperactivity disorder (sequence analysis of DRD4 gene) + info
   

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