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