SLC35A2-CDG
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Care facilities 3
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
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Hereditary spastic paraplegia
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Mitochondrial disease
- Leukodystrophy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Neurodegeneration with brain iron accumulation
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- Aicardi-Goutières syndrome
- KBG syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie am Universitätsklinikum Münster
Universitätsklinikum Münster (UKM) Centrum für seltene Erkrankungen Münster
Albert-Schweitzer-Campus 1
48149 Münster
0251 8347732
0251 8347735
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Email
- Disorder of carbohydrate metabolism
- Autosomal dominant polycystic kidney disease
- Nephronophthisis
- Cystic fibrosis
- Respiratory malformation
- Disorder of lipid metabolism
- Disorder of amino acid and other organic acid metabolism
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal recessive polycystic kidney disease