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