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