PCNA-related progressive neurodegenerative photosensitivity syndrome
Parent facilities 0
Genetic Advices 2
Humangenetisches Institut am Universitätsklinikum Erlangen
Universitätsklinikum Erlangen
Schwabachanlage 10
91054 Erlangen
09131 8522318
09131 8523232
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- Diamond-Blackfan anemia
- Hereditary nonpolyposis colon cancer
- Inherited cancer-predisposing syndrome
- Silver-Russell syndrome
- Noonan syndrome
- Constitutional mismatch repair deficiency syndrome
- Familial ovarian cancer
- Hereditary retinoblastoma
- Beckwith-Wiedemann syndrome
- Von Hippel-Lindau disease
- Xeroderma pigmentosum
- Ataxia-telangiectasia
- Common variable immunodeficiency
- Li-Fraumeni syndrome
- Full NF2-related schwannomatosis
Institut für Humangenetik am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741053125
040 741055138
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- Diamond-Blackfan anemia
- Silver-Russell syndrome
- Maffucci syndrome
- Beckwith-Wiedemann syndrome
- Costello syndrome
- Noonan syndrome
- Familial ovarian cancer
- Ataxia-telangiectasia
- Von Hippel-Lindau disease
- Cockayne syndrome
- Xeroderma pigmentosum
- Li-Fraumeni syndrome
- APC-related attenuated familial adenomatous polyposis
- Full NF2-related schwannomatosis
- Inherited renal cancer-predisposing syndrome
Care facilities 2
Zentrum für Dystone Bewegungsstörungen im Kindesalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
0221 47842513
0221 4785189
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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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- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Kabuki syndrome
- KBG syndrome