Alagille syndrome due to a NOTCH2 point mutation
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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Email
- Diamond-Blackfan anemia
- Beckwith-Wiedemann syndrome
- Inherited cancer-predisposing syndrome
- Constitutional mismatch repair deficiency syndrome
- Noonan syndrome
- Ataxia-telangiectasia
- Full NF2-related schwannomatosis
- Von Hippel-Lindau disease
- Familial ovarian cancer
- Hereditary retinoblastoma
- Common variable immunodeficiency
- Hereditary nonpolyposis colon cancer
- Silver-Russell syndrome
- Li-Fraumeni syndrome
- 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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Email
- Full NF2-related schwannomatosis
- APC-related attenuated familial adenomatous polyposis
- Ataxia-telangiectasia
- Von Hippel-Lindau disease
- Costello syndrome
- Familial ovarian cancer
- Cockayne syndrome
- Maffucci syndrome
- Noonan syndrome
- Diamond-Blackfan anemia
- Beckwith-Wiedemann syndrome
- Silver-Russell syndrome
- Xeroderma pigmentosum
- Li-Fraumeni syndrome
- Inherited renal cancer-predisposing syndrome
Care facilities 5
Klinik für Kinderheilkunde II - Kindergastroenterologie am Universitätsklinikum Essen
Universitätsklinikum Essen
Hufelandstraße 55
45147 Essen
0201 7233360
0201 7236831
Website
Universitäres Transplantations Centrum (UTC) am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741028700
040 741040700
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Email
Klinik und Poliklinik für Kinder- und Jugendmedizin am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20246 Hamburg
040 741020400
040 741020404
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Email
- Congenital neuronal ceroid lipofuscinosis
- Alpha-1-antitrypsin deficiency
- Infantile neuronal ceroid lipofuscinosis
- Juvenile neuronal ceroid lipofuscinosis
- Thrombotic microangiopathy
- Leukodystrophy
- Autosomal recessive polycystic kidney disease
- Wilson disease
- STXBP1-related encephalopathy
- Late infantile neuronal ceroid lipofuscinosis
- Genetic glomerular disease
- Autosomal dominant polycystic kidney disease
- Neuronal ceroid lipofuscinosis
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
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
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Rubinstein-Taybi syndrome
Zentrum für Seltene Lebererkrankungen am Universitätsklinikum Tübingen
Behandlungs- und Forschungszentrum für Seltene Erkrankungen (ZSE) Tübingen Universitätsklinikum Tübingen
Hoppe-Seyler-Straße 1
72076 Tübingen