Rhizomelic chondrodysplasia punctata type 3
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6.917061443465901
50.92344825
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Paralytic facial malformation
- Hypochondroplasia
- Dysosteosclerosis
- Omodysplasia
- Acromelic dysplasia
- OBSOLETE: Peripheral dysostosis
- Achondroplasia
- Brachydactyly-long thumb syndrome
- Heart-hand syndrome
- Osteogenesis imperfecta
- Metachondromatosis
- Fibrous dysplasia of bone
- Rhizomelic chondrodysplasia punctata type 1
11.5623312
48.1328805
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
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- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Mitochondrial disease
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Myasthenia gravis
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Leukodystrophy