SE-ATLAS

Alport syndrome Angelman syndrome Angelman syndrome due to a point mutation Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to paternal uniparental disomy of chromosome 15 Antenatal Bartter syndrome Antley-Bixler syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Autosomal recessive Stickler syndrome Bardet-Biedl syndrome Bartter syndrome Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome with hypocalcemia Becker muscular dystrophy Bohring-Opitz syndrome CHARGE syndrome COFS syndrome Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Cockayne syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Crouzon syndrome Duane retraction syndrome Duchenne muscular dystrophy Dursun syndrome Fabry disease Fanconi anemia Greig cephalopolysyndactyly syndrome Hypopituitarism-postaxial polydactyly syndrome Infantile spasms syndrome Keratoderma hereditarium mutilans Lafora disease Leigh syndrome Leigh syndrome with cardiomyopathy Leigh syndrome with leukodystrophy Leigh syndrome with nephrotic syndrome Meckel syndrome Muenke syndrome Partington syndrome Pfeiffer syndrome Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 Retinitis pigmentosa Rett syndrome Stargardt disease Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Usher syndrome type 3 Wilson disease X-linked Alport syndrome