SLC35A2-CDG
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Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
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Email
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Huntington disease
- Leukodystrophy
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
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
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- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Aicardi-Goutières syndrome
- Infantile spasms syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Achondroplasia
- Kabuki syndrome
- Rubinstein-Taybi syndrome
- KBG syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Centrum für seltene Erkrankungen Münster Universitätsklinikum Münster (UKM)
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
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Email
- Disorder of lipid metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Respiratory malformation
- Cystic fibrosis
- Autosomal dominant polycystic kidney disease
- Disorder of carbohydrate metabolism
- Autosomal recessive polycystic kidney disease
- Nephronophthisis
- Disorder of amino acid and other organic acid metabolism