Pyridoxal phosphate-responsive seizures
Parent facilities 0
Genetic Advices 0
Care facilities 3
Epilepsiezentrum Frankfurt Rhein-Main am Universitätsklinikum Frankfurt
Frankfurter Referenzzentrum für Seltene Erkrankungen (FRZSE) Universitätsklinikum Frankfurt
Schleusenweg 2 – 16
60528 Frankfurt
069 630185065
069 63017075
Website
Email
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Hennekam syndrome
- Aicardi-Goutières syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Rubinstein-Taybi syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- Mitochondrial disease
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Neurodegeneration with brain iron accumulation
- Atypical pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Infantile neuroaxonal dystrophy