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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- Diamond-Blackfan anemia
- Noonan syndrome
- Li-Fraumeni syndrome
- Full NF2-related schwannomatosis
- Inherited cancer-predisposing syndrome
- Familial ovarian cancer
- Common variable immunodeficiency
- Hereditary retinoblastoma
- Constitutional mismatch repair deficiency syndrome
- Von Hippel-Lindau disease
- Xeroderma pigmentosum
- Ataxia-telangiectasia
- Silver-Russell syndrome
- Beckwith-Wiedemann syndrome
- Hereditary nonpolyposis colon cancer
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
- Maffucci syndrome
- Costello syndrome
- Xeroderma pigmentosum
- Ataxia-telangiectasia
- Silver-Russell syndrome
- Beckwith-Wiedemann syndrome
- Cockayne syndrome
- Familial ovarian cancer
- Von Hippel-Lindau disease
- Inherited renal cancer-predisposing syndrome
- Noonan syndrome
- Li-Fraumeni syndrome
- Full NF2-related schwannomatosis
- APC-related attenuated familial adenomatous polyposis
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
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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- 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
- Kabuki syndrome
- KBG syndrome
- Achondroplasia
- Infantile spasms syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Hennekam syndrome