Il portale delle malattie rare e dei farmaci orfani

Zentrum für angeborene Fehlbildungen und Entwicklungsstörungen (Assoziiertes Nationales Zentrum im Europäischen Referenznetzwerk ERN ITHACA) Center for inborn malformations and developmental anomalies (Associated National Center in the European Reference Network ERN ITHACA)

Medizinische Universität Innsbruck

Expertisecentrum voor zeldzame aangeboren afwijkingen en ontwikkelingsstoornissen - UZA Expert centre for rare congenital anomalies and developmental disorders - Antwerp University Hospital

Antwerp University Hospital - UZA

Multidisciplinair expertenteam/Centrum Zeldzame Ziekten - Universitair Ziekenhuis Antwerpen Multidisciplinary expert team/Centre for Rare Diseases - University Hospital of Antwerp

Antwerp University Hospital - UZA

Equipe d'experts multidisciplinaire/Centre pour les maladies rares - Hôpital Universitaire de Bruxelles (H.U.B) Multidisciplinary expert team/Centre for rare diseases - Brussels University Hospital

Hôpital Universitaire de Bruxelles (H.U.B)

Centre de référence Spina Bifida - Cliniques universitaires Saint-Luc Spina Bifida Reference Centre - Cliniques universitaires Saint-Luc

Cliniques universitaires Saint-Luc - UCLouvain

Centre expert des malformations congénitales rares et des déficiences intellectuelles rares - Consortium Cliniques universitaires Saint-Luc et IPG Expert Center on Rare Congenital Malformations and Rare Intellectual Disability - Consortium Cliniques universitaires Saint-Luc and IPG

Cliniques universitaires Saint-Luc - UCLouvain

Centre expert des syndromes rares présentant des anomalies du développement et/ou une déficience intellectuelle - H.U.B Hôpital Erasme/HUDERF Expert centre for rare syndromes exhibiting developmental anomalies and/or intellectual disability - H.U.B Hôpital Erasme/HUDERF

Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme

Centre labio-palatin Albert de Coninck - Cliniques universitaires Saint-Luc Labial-palatine center - Cliniques universitaires Saint-Luc

Cliniques universitaires Saint-Luc - UCLouvain

Equipe d'experts multidisciplinaire/Centre pour les maladies rares - Cliniques Universitaires Saint-Luc Multidisciplinary expert team/Centre for rare diseases - Saint-Luc University Hospital

Cliniques universitaires Saint-Luc - UCLouvain

Expertisecentrum voor zeldzame aangeboren afwijkingen, syndromen en verstandelijke beperking - Universitair Ziekenhuis Gent Expert centre for rare developmental anomalies, syndromes and intellectual disabilities - Ghent University Hospital

Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent

Multidisciplinair expertenteam/Centrum voor Zeldzame Ziekten - Universitair Ziekenhuis Gent Multidisciplinary expert team/Centre for Rare Diseases - University Hospital of Ghent

Universitair ziekenhuis Gent (UZ Gent)

SBRC - Spina Bifida Referentiecentrum (afdeling kinderen) - UZ Gent SBRC - Spina Bifida Reference Centre (children section) - Ghent University Hospital

Universitair ziekenhuis Gent (UZ Gent)

SBRC - Spina Bifida Referentiecentrum (afdeling volwassenen) - UZ Gent SBRC - Spina bifida Reference Centre (adults section) - Ghent University Hospital

Universitair ziekenhuis Gent (UZ Gent)

Centrum voor Menselijke Erfelijkheid - UZ Leuven General Genetic Counselling Clinic - UZ Leuven

UZ Leuven - Campus Gasthuisberg

Expertisecentrum voor zeldzame aangeboren afwijkingen, syndromen en verstandelijke beperking - UZ Leuven Expert centre for rare developmental anomalies, syndromes and intellectual disability - UZ Leuven

UZ Leuven - Campus Gasthuisberg

Multidisciplinair expertenteam/Centrum Zeldzame Ziekten - Universitair Ziekenhuis Leuven Multidisciplinary expert team/Centre for Rare Diseases - University Hospitals Leuven

UZ Leuven - Campus Gasthuisberg

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability

The Cyprus Institute of Neurology and Genetics

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability

Children's University Hospital Zagreb

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability

Odense University hospital

Center for Rare Diseases

Rigshospitalet

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability

Klinisk Genetisk Afdeling - Aarhus Universitetshospital - Skejby

Kaasasündinud väärarengute ja haruldaste vaimupuuete ekspertkeskus Centre of Congenital Malformations and Rare Intellectual Disabilities

Competence Centre for Rare Diseases - Tartu University Hospital

Multidistsiplinaarne harvikhaiguste kompetentsikeskus Multidisciplinary expert team / Competence Centre for Rare Diseases

Competence Centre for Rare Diseases - Tartu University Hospital

Expert Centre on Rare Congenital Malformations and Rare Intellectual Disability_Helsinki Expert Centre on Rare Congenital Malformations and Rare Intellectual Disability_Helsinki

HUS - Helsinki University Hospital

Expert Centre on Rare Congenital Malformations and Rare Intellectual Disability_OULU

Oulu University Hospital

Centre de référence des anomalies du développement et syndromes malformatifs du Sud-Est - Site coordonnateur Reference centre for developmental anomalies and malformation syndromes Sud-Est - Coordinator site

CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant

Centre de référence des anomalies du développement et syndromes malformatifs de l'Est - Site coordonnateur Reference centre for developmental anomalies and malformation syndromes Est - Coordinator site

CHU Dijon Bourgogne - Hôpital d'Enfants

Centre de référence des anomalies du développement et syndromes malformatifs de l'Ouest - Site coordonnateur Reference centre for developmental anomalies and malformation syndromes Ouest - Coordinator site

CHU de Rennes - Hôpital Sud

Centre de référence des anomalies vertébrales et Spina-Bifida - Site constitutif Reference centre for vertebral anomalies and Spina Bifida - Constitutive site

CHU de Rennes - Hôpital Pontchaillou

Centre de référence des anomalies du développement et syndromes malformatifs de l'inter région Nord-Ouest - Site coordonnateur Reference centre for developmental anomalies and malformation syndromes Nord-Ouest - Coordinator site

CHU de Lille - Centre de Biologie Pathologie Génétique

Centre de référence des anomalies du développement et syndromes malformatifs d'Ile-de-France - Site coordonnateur Reference centre for developmental anomalies and malformation syndromes IDF - Coordinator site

CHU Paris - Hôpital Robert Debré

Centre de référence des anomalies du développement et syndromes malformatifs du Sud-Ouest Occitanie Réunion - Site coordonnateur Reference centre for developmental anomalies and malformation syndromes Sud-Ouest Occitanie Réunion - Coordinator site

CHU de Bordeaux-GH Pellegrin

Centre de référence des anomalies du développement et syndromes malformatifs du Sud-Ouest Occitanie Réunion - Site constitutif Reference centre for developmental anomalies and malformation syndromes Sud-Ouest Occitanie Réunion - Constitutive site

CHU de Montpellier - Hôpital Arnaud de Villeneuve

Centre de référence des anomalies du développement et syndromes malformatifs du Sud-Est - Site constitutif Reference centre for developmental anomalies and malformation syndromes Sud-Est - Constitutive site

CHU de Marseille - Hôpital de la Timone

Genetische Beratung Genetic counselling clinic

Institut für Medizinische Genetik und angewandte Genomik Tübingen

Genetische Beratung Genetic counselling clinic

Humangenetisches Institut am Universitätsklinikum Erlangen

ZSE Erlangen: Zentrum für Seltene Entwicklungsstörungen Rare developmental defect clinic

ZSEER - Universitätsklinikum Erlangen

Genetische Beratung Genetic counselling clinic

Eurofins Humangenetik

Genetische Beratung

UKE - Universitätsklinikum Hamburg-Eppendorf

Genetische Beratung

Institut für Humangenetik der Universität Göttingen

ZSE Göttingen: Zentrum für Progeroide Erkrankungen Center for Progeroid Syndromes

Universitätsmedizin Göttingen

ZSE Göttingen: Zentrum für Ungeklärte Angeborene Syndrome und Klinische Genommedizin Centre for Unexplained Congenital Syndromes and Clinical Genomic Medicine

Universitätsmedizin Göttingen

Genetische Beratung Genetic counselling clinic

Heinrich-Heine-Universität Düsseldorf

ZSE Düsseldorf: Klinische Genommedizin/Zentrum für syndromale Erkrankungen und angeborene Fehlbildungen mit SP kraniofaziale Anomalien Clinical Genomedicine/Centre for Syndromic Diseases and Congenital Malformations with special focus on craniofacial anomalies

Universitätsklinikum Düsseldorf

Genetische Beratung

Universitätsklinikum Essen

Genetische Beratung Genetic counselling clinic

Centrum für Medizinische Genetik des Universitätsklinikums Münster

ZSE Münster: Spezialambulanz für angeborene Stoffwechselstörungen Congenital metabolic diseases clinic

Universitätsklinikum Münster

Genetische Beratung

Universitätsklinikum Magdeburg A.ö.R

Genetische Beratung Genetic counselling clinic

Universitätsklinikum Schleswig-Holstein - Campus Lübeck

ZSE Lübeck: Fachzentrum für seltene genetische Syndrome und angeborene Fehlbildungen Rare genetic syndromes and congenital malformations clinic

Universitätsklinikum Schleswig-Holstein - Campus Lübeck

ZSE Lübeck: Spezialsprechstunde für ungeklärte Entwicklungsverzögerung Developmental defect during embryogenesis clinic

Universitätsklinikum Schleswig-Holstein - Campus Lübeck

Department of Clinical Genetics

Children's Health Ireland @ Crumlin

Department of Endocrinology and Diabetes

Children's Health Ireland @ Crumlin

Department of General Paediatrics

Children's Health Ireland @ Crumlin

Department of Paediatric Neurology

Department of Neurology - Children's Health Ireland

Centro di Riferimento per la dismorfologia Centre of Expertise for dysmorphology

Azienda Ospedaliera Universitaria "Federico II"

Centro di Riferimento Regionale per le Malattie Rare Pediatriche congenito-malformative Centre of Expertise for rare developmental defect during embryogenesis

IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola

Consulenza genetica Genetic counselling

A.O.U. Sant'Anna - Polo Chimico-Bio-Medico

Centro di Riferimento per la dismorfologia Centre of Expertise for dysmorphology

AUSL IRCCS Arcispedale Santa Maria Nuova

Centro di Riferimento per le malattie neurologiche pediatriche rare Centre of Expertise for rare pediatric neurologic diseases

AUSL IRCCS Arcispedale Santa Maria Nuova

Consulenza Genetica Genetic counselling clinic

AUSL IRCCS Arcispedale Santa Maria Nuova

Centro di Riferimento per la dismorfologia Centre of Expertise for dysmorphology

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Centro di Riferimento per le malattie genetiche rare Centre of Expertise for rare genetic diseases

IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO

Centro di Riferimento per le malformazioni e i tumori del sistema nervoso centrale Centre of Expertise for rare central nervous system tumors and malformations

IRCCS Istituto G. Gaslini - Ospedale Pediatrico

Centro di Riferimento per la dismorfologia Centre of Expertise for dysmorphology

Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico

Centro Esperto per le anomalie dello sviluppo e la disabilità intellettiva

Fondazione IRCCS Istituto Neurologico "Carlo Besta"

Centro di Riferimento per le malformazioni congenite rare e la disabilità intellettiva Expert Center for rare congenital malformations and intellectual disability

Azienda Sanitaria Locale Torino - TO2 - Ospedale San Giovanni Bosco

Centro Esperto per le RASopatie Centre of Expertise for RASopathies

A.O.U. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita

Centro Esperto per le sindromi da gigantismo Centre of Expertise for overgrowth syndrome

A.O.U. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita

Centro di Riferimento per le sindromi epilettiche e le malformazioni cerebrali rare Centre of Expertise for rare epileptic syndromes and cerebral malformations

Azienda Ospedaliera Universitaria Anna Meyer I.R.C.C.S.

Centro di Riferimento per la dismorfologia Centre of Expertise for Dysmorphology

Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte

Centro di riferimento per la dismorfologia Centre of Expertise for dysmorphology

Azienda Ospedaliera di Padova

Mediciniskas genetikas un prenatalas diagnostikas klinika un Reto slimibu koordinacijas centrs Clinic of Medical Genetic and Prenatal Diagnostics and Rare disease coordination center

Children's Clinical University Hospital

Reference Center for Congenital Malformations and Intellectual Disability Reference Center for Congenital Malformations and Intellectual Disability

Vilnius University Hospital Santariskiu Klinikos

Avdeling for medisinsk genetikk, Laboratorieklinikken Department for Medical Genetics, Laboratory Medicine and Pathology

Haukeland University Hospital

Radboudumc Expertisecentrum voor Aangeboren Ontwikkelingsstoornissen Radboudumc Center of Expertise for Congenital Neurodevelopmental Disorders

Radboudumc - Radboud universitair medisch centrum

UMCG Expertisecentrum 'Uniek' voor Zeldzame Genetische Oorzaken voor Ontwikkelingsachterstand UMCG Center of Expertise 'Unique' for Rare Genetic Causes of Neurodevelopmental Disorders

UMCG - Universitair Medisch Centrum Groningen

Maastricht UMC+ Expertisecentrum voor Zeldzame Syndromen en Cognitieve Stoornissen Maastricht UMC+ Center of Expertise for Rare Syndromes and Cognitive Disorders

Maastricht UMC+

AECO - Amsterdam UMC Expertisecentrum Ontwikkelingsstoornissen AECO - Amsterdam UMC Expert Center for Developmental Disorders

Amsterdam UMC, locatie AMC

LUMC-Juliana Kinderziekenhuis-Reinier de Graaf Gasthuis Expertisecentrum voor Zeldzame Aangeboren Afwijkingen en Verstandelijke Beperking LUMC-Juliana Kinderziekenhuis-Reinier de Graaf Gasthuis Expert Center for Rare Congenital Malformations and Intellectual Disability

LUMC - Leids Universitair Medisch Centrum

Erasmus MC Expertisecentrum voor Aangeboren Hand- en Armafwijkingen Erasmus MC Center of Expertise for Congenital Hand and Upper Limb Disorders

Erasmus MC - Erasmus Medisch Centrum

Erasmus MC Expertisecentrum voor Erfelijke Neurocognitieve Ontwikkelingsstoornissen Erasmus MC Center of Expertise for Neurodevelopmental Disorders

Erasmus MC - Erasmus Medisch Centrum

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability

Uniwersyteckie Centrum Kliniczne

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability

Wojewodzki Specjalistyczny Szpital Dzieciecy

Ośrodek referencyjny rzadkich wad wrodzonych i rzadkich przyczyn niepełnosprawności intelektualnej

Instytut "Pomnik-Centrum Zdrowia Dziecka"

Consulta de Dismorfologia - CHUC, EPE Dysmorphology clinic - CHUC, EPE

Unidade Local de Saúde de Coimbra, EPE - ULSC, EPE [CHUC]

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability - CHULN, EPE (ERN ITHACA)

Unidade Local de Saúde de Santa Maria, EPE - ULSSM, EPE [CHULN]

Oddelení klinicke genetiky Clinical Genetics Unit

University Hospital Motol

Centrul Regional de Genetica Medicala Iasi Iasi Regional Medical Genetics Centre

Spitalul Clinic de Urgente pentru Copii Sfanta Maria

Centre for children with Dravet syndrome

DebRA SR

CSUR - Unidad de referencia nacional en neurocirugía pediátrica compleja CSUR - National unit of expertise of complex pediatric neurosurgery

Hospital Universitari Vall d'Hebron

UEC - Unidad de experiencia clínica regional en enfermedades cognitivoconductuales de base genética en la edad pediátrica UEC - Unit of regional clinical experience in genetic-based behavioral cognitive disorders in pediatric age

Hospital Sant Joan de Déu Barcelona

Centro experto en malformaciones congénitas y discapacidad intelectual raras Expert center on rare congenital malformations and rare intellectual disability

INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)

CSUR - Unidad de referencia nacional en neurocirugía pediátrica compleja CSUR - National unit of expertice of complex pediatric neurosurgery

Hospital Universitario 12 de Octubre

Expertteam för extremitetsavvikelser (TEA), ERN Ithaca Expert team for Congenital Limb Anomalies (TEA), ERN Ithaca

Karolinska Universitetssjukhuset

Expertteam för genetisk diagnostik av medfödda missbildningar och/eller intelektuell funktionsnedsättning, ERN Ithaca Expert team for genetic diagnostics of congenital malformations and/or intelectual disabilities, ERN Ithaca

Karolinska Universitetssjukhuset

Ritka Betegségek Nemzeti Koordinációs Központja National Rare Disease Research Coordination Centre - Genetic counselling clinic

Clinical Center - University of Pécs

Expert Center on on Rare Congenital Malformations and Rare Intellectual Disability

University of Debrecen