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