SLC35A2-CDG
Parent facilities 0
Genetic Advices 0
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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- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Mitochondrial membrane protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Huntington disease
- Classic pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Atypical pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- Mitochondrial disease
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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- KBG syndrome
- ADNP syndrome
- Achondroplasia
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Hennekam syndrome
- Aicardi-Goutières syndrome
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
- Autosomal recessive polycystic kidney disease
- Primary ciliary dyskinesia
- Rare epilepsy
- Autosomal dominant polycystic kidney disease
- Nephronophthisis
- Respiratory malformation
- Disorder of carbohydrate metabolism
- Cystic fibrosis
- Disorder of amino acid and other organic acid metabolism
- Disorder of lipid metabolism