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