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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- Silver-Russell syndrome
- Diamond-Blackfan anemia
- Hereditary nonpolyposis colon cancer
- Inherited cancer-predisposing syndrome
- Von Hippel-Lindau disease
- Noonan syndrome
- Constitutional mismatch repair deficiency syndrome
- Common variable immunodeficiency
- Beckwith-Wiedemann syndrome
- Li-Fraumeni syndrome
- Familial ovarian cancer
- Hereditary retinoblastoma
- Full NF2-related schwannomatosis
- Ataxia-telangiectasia
- Xeroderma pigmentosum
Institut für Humangenetik am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741053125
040 741055138
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- Familial ovarian cancer
- Cockayne syndrome
- Ataxia-telangiectasia
- Von Hippel-Lindau disease
- Xeroderma pigmentosum
- Inherited renal cancer-predisposing syndrome
- Diamond-Blackfan anemia
- Full NF2-related schwannomatosis
- APC-related attenuated familial adenomatous polyposis
- Li-Fraumeni syndrome
- Silver-Russell syndrome
- Noonan syndrome
- Costello syndrome
- Beckwith-Wiedemann syndrome
- Maffucci 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
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- Aicardi-Goutières syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Hennekam syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder