Rhizomelic chondrodysplasia punctata type 2
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Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Achondroplasia
- Dysosteosclerosis
- Acromelic dysplasia
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Fibrous dysplasia of bone
- Hypochondroplasia
- Brachydactyly-long thumb syndrome
- Heart-hand syndrome
- Rhizomelic chondrodysplasia punctata type 1
- OBSOLETE: Peripheral dysostosis
- Omodysplasia
- Osteogenesis imperfecta
- Metachondromatosis
- Paralytic facial malformation
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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- COASY protein-associated neurodegeneration
- Neuroferritinopathy
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Myasthenia gravis
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
Zentrum für kongenitale Katarakt am Universitätsklinikum Würzburg
Zentrum für Seltene Erkrankungen - Referenzzentrum Nordbayern (ZESE) Universitätsklinikum Würzburg
Josef-Schneider-Straße 11
97080 Würzburg
0931 20120487
0931 20120494
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