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