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