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