Question 1
Question
POLIQUISTOSIS RENAL DEL ADULTO
Question 2
Question
COREA DE HUNTINGTON
Question 3
Question
MIOCARDIOPATÍA HIPERTRÓFICA HEREDITARIA
Question 4
Question
DISTROFIA MIOTÓNICA DE STEINERT
Question 5
Question 6
Question
ENFERMEDAD DE VON WILLEBRAND MÁS FRECUENTE
Question 7
Question
DIABETES TIPO MODY
Question 8
Question
ATAXIA ESPINOCEREBELAR TIPO 3 (SC3)
Question 9
Question
CHARCOT-MARIE-TOOTH TIPO 2A
Question 10
Question 11
Question 12
Question
NEUROFIBROMATOSIS TIPO 1 Y TIPO 2
Question 13
Question
ESCLEROSIS TUBEROSA (BOURNEVILLE)
Question 14
Question
VON HIPPEL LINDAU
Question 15
Question
HIPERCOLESTEROLEMIA FAMILIAR / HIPERTRIGLICERIDEMIA FAMILIAR
Question 16
Question
LYNCH (CÁNCER DE COLON HEREDITARIO SIN POLIPOSIS)
Question 17
Question
CÁNCER DE MAMA Y OVARIO HEREDITARIO (BRCA+)
Question 18
Question
POLIPOSIS COLÓNICA FAMILIAR
Question 19
Question
ESFEROCITOSIS HEREDITARIA
Question 20
Question
ENFERMEDAD DE MARFAN
Question 21
Question
OSTEOGÉNESIS IMPERFECTA
Question 22
Question 23
Question
DÉFICIT DE PROTEÍNA C / DÉFICIT DE PROTEÍNA S /DÉFICIT DE ANTITROMBINA III
Question 24
Question
FACTOR V LEIDEN (RESISTENCIA A LA PROTEÍNA C ACTIVADA)
Question 25
Question
FIBROSIS QUÍSTICA
Question 26
Question 27
Question
ATAXIA DE FRIEDREICH
Question 28
Question
ATAXIA TELANGIECTASIA
Question 29
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XERODERMA PIGMENTOSO
Question 30
Question
ANEMIA DE FANCONI
Question 31
Question
SÍNDROME DE BARTTER
Question 32
Question
ENFERMEDAD DE WILSON
Question 33
Question
DÉFICIT DE ALFA1- ANTITRIPSINA
Question 34
Question
DÉFICIT DE 21-ALFA-HIDROXILASA
Question 35
Question
DEFECTOS METABÓLICO-ENZIMÁTICOS (EXCEPTO FABRY Y HUNTER)
Question 36
Question 37
Question
RAQUITISMO VITAMINO-RESISTENTE (HIPOFOSFATEMIA)
Question 38
Question
INCONTINENCIA PIGMENTI
Question 39
Question
SÍNDROME DE ALPORT
Question 40
Question
HIPERAMONIEMIA POR DÉFICIT DE ORNITINA TRANSCARBAMILASA
Question 41
Question
CHARCOT-MARIE TOOTH TIPO 1X
Question 42
Question
MIOPATÍA DE DUCHENE Y BECKER
Question 43
Question 44
Question
DEFICIENCIA DE GLUCOSA 6 FOSFATO DESHIDROGENASA
Question 45
Question
ENFERMEDAD GRANULOMATOSA CRÓNICA
Question 46
Question 47
Question
HIPOGAMMAGLOBULINEMIA DE BRUTON
Question 48
Question 49
Question
SÍNDROME DE LESCH-NYHAN
Question 50
Question 51
Question
SÍNDROME DE MORRIS
Question 52
Question
DIABETES INSÍPIDA NEFROGÉNICA FAMILIAR
Question 53
Question
NEUROPATÍA ÓPTICA DE LEBER
Question 54
Question
MERRF (EPILEPSIA MIOCLÓNICA DE FIBRAS ROJAS ROTAS)
Question 55
Question 56
Question
SÍNDROME DE NEUROPATÍA Y RETINITIS PIGMENTARIA
Question 57
Question
SÍNDROME DE PEARSON
Question 58
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SÍNDROME DE KEARNS-SAYRE
Question 59
Question
FIEBRE MEDITERRÁNEA FAMILIAR