SE-ATLAS

Pfeiffer syndrome Cockayne syndrome type 2 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Cockayne syndrome type 1 Cockayne syndrome type 3 Antenatal Bartter syndrome Bartter syndrome type 3 Infantile spasms syndrome Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome due to maternal 15q11q13 deletion Bohring-Opitz syndrome Bartter syndrome with hypocalcemia Fabry disease Cockayne syndrome Bartter syndrome type 4 Leigh syndrome with leukodystrophy Hypopituitarism-postaxial polydactyly syndrome Alport syndrome Leigh syndrome with nephrotic syndrome Crouzon syndrome Angelman syndrome Muenke syndrome Antley-Bixler syndrome Fanconi anemia Keratoderma hereditarium mutilans Wilson disease Stickler syndrome type 2 Stickler syndrome type 1 Lafora disease Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Rett syndrome Duane retraction syndrome Leigh syndrome with cardiomyopathy Leigh syndrome Pfeiffer syndrome type 1 COFS syndrome Dursun syndrome Pfeiffer syndrome type 3 Pfeiffer syndrome type 2 Greig cephalopolysyndactyly syndrome Retinitis pigmentosa Partington syndrome Bardet-Biedl syndrome Bartter syndrome X-linked Alport syndrome Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome CHARGE syndrome Usher syndrome type 3 Maladie de Stargardt Syndrome de Stickler Dystrophie musculaire de Becker Dystrophie musculaire de Duchenne Syndrome de Meckel Syndrome de Stickler autosomique récessif Syndrome d'Angelman dû à un défaut d'empreinte de la région 15q11-q13 Syndrome d'Angelman dû à une mutation ponctuelle