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
- Common variable immunodeficiency
- Von Hippel-Lindau disease
- Xeroderma pigmentosum
- Noonan syndrome
- Ataxia-telangiectasia
- Beckwith-Wiedemann syndrome
- Hereditary nonpolyposis colon cancer
- Hereditary retinoblastoma
- Silver-Russell syndrome
- Diamond-Blackfan anemia
- Li-Fraumeni syndrome
- Inherited cancer-predisposing syndrome
- Familial ovarian cancer
- 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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- Cockayne syndrome
- Li-Fraumeni syndrome
- Familial ovarian cancer
- Beckwith-Wiedemann syndrome
- Maffucci syndrome
- Full NF2-related schwannomatosis
- APC-related attenuated familial adenomatous polyposis
- Noonan syndrome
- Von Hippel-Lindau disease
- Silver-Russell syndrome
- Diamond-Blackfan anemia
- Costello syndrome
- Ataxia-telangiectasia
- Inherited renal cancer-predisposing syndrome
- Xeroderma pigmentosum
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
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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- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Hennekam syndrome