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