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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- Noonan syndrome
- Beckwith-Wiedemann syndrome
- Common variable immunodeficiency
- Constitutional mismatch repair deficiency syndrome
- Von Hippel-Lindau disease
- Xeroderma pigmentosum
- Diamond-Blackfan anemia
- Full NF2-related schwannomatosis
- Familial ovarian cancer
- Inherited cancer-predisposing syndrome
- Li-Fraumeni syndrome
- Silver-Russell syndrome
- Hereditary nonpolyposis colon cancer
- Ataxia-telangiectasia
- Hereditary retinoblastoma
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
- Noonan syndrome
- Li-Fraumeni syndrome
- Inherited renal cancer-predisposing syndrome
- Familial ovarian cancer
- Full NF2-related schwannomatosis
- APC-related attenuated familial adenomatous polyposis
- Von Hippel-Lindau disease
- Ataxia-telangiectasia
- Beckwith-Wiedemann syndrome
- Maffucci syndrome
- Xeroderma pigmentosum
- Silver-Russell syndrome
- Cockayne syndrome
- Costello syndrome
Care facilities 6
Behandlungs- und Forschungszentrum für seltene angeborene Herz- und Kreislauferkrankungen
Uniklinik RWTH Aachen Zentrum für Seltene Erkrankungen Aachen
Pauwelsstr. 30
52074 Aachen
0241 80 88981 /-80583
0241 80 82450
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02418087087
0241 80 3387021
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- Pulmonary artery or pulmonary branch anomaly
- Unclassified cardiomyopathy
- Congenital anomaly of the inferior vena cava
- Congenital mitral malformation
- Triatrial heart
- Transposition of the great arteries
- Congenital pulmonary venous return anomaly
- Non-familial restrictive cardiomyopathy
- Congenital mitral valve insufficiency and/or stenosis
- Non-familial hypertrophic cardiomyopathy
- Congenital pericardium anomaly
- Familial restrictive cardiomyopathy
- Anomalous aortic origin of coronary artery
- Rare combined vascular malformation
- Familial long QT syndrome
Klinik für Kinderheilkunde II - Kindergastroenterologie am Universitätsklinikum Essen
Universitätsklinikum Essen
Hufelandstraße 55
45147 Essen
0201 7233360
0201 7236831
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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
- Autosomal dominant polycystic kidney disease
- Juvenile neuronal ceroid lipofuscinosis
- Neuronal ceroid lipofuscinosis
- Congenital neuronal ceroid lipofuscinosis
- STXBP1-related encephalopathy
- Alpha-1-antitrypsin deficiency
- Infantile neuronal ceroid lipofuscinosis
- Leukodystrophy
- Autosomal recessive polycystic kidney disease
- Thrombotic microangiopathy
- Late infantile neuronal ceroid lipofuscinosis
- Wilson disease
- Genetic glomerular disease
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
TUM Klinikum Rechts der Isar Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- ADNP syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Rubinstein-Taybi syndrome
- Achondroplasia
Zentrum für Seltene Lebererkrankungen am Universitätsklinikum Tübingen
Behandlungs- und Forschungszentrum für Seltene Erkrankungen (ZSE) Tübingen Universitätsklinikum Tübingen
Hoppe-Seyler-Straße 1
72076 Tübingen