A-Z

Folder ADENOMATOUS POLYPOSIS OF THE COLON
 
Folder SEVERE COMBINED IMMUNODEFICIENCY (ADA deficiency)
 
Folder ADRENAL HYPERPLASIA V
 
Folder ADDUCTED THUMB SYNDROME
 
Folder ADRENAL HYPERPLASIA II
 
Folder ALBINISM, OCULOCUTANEOUS, TYPE 1B
 
Folder ADRENAL HYPERPLASIA IV
 
Folder ALSTROM SYNDROME
 
Folder BRITTLE HAIR SYNDROME, AMISH TYPE
 
Folder ATAXIA-TELANGIECTASIA
 
Folder AMYOTROPHIC LATERAL SCLEROSIS 2
 
Folder BARDET-BIEDL SYNDROME
 
Folder BIOTIN (BIOTINIDASE) DEFICIENCY
 
Folder DEAFNESS, COCHLEAR, plus
 
Folder DYSTONIA 1
 
Folder CHOLESTASIS, FAMILIAL INTRAHEPATIC
 
Folder CONGENITAL HYPOTHYROIDISM
 
Folder COCKAYNE SYNDROME, Type B
 
Folder CLEFT PALATE WITH ANKYLOGLOSSIA
 
Folder CARTILAGE-HAIR HYPOPLASIA
 
Folder CONGENITAL GLAUCOMA
 
Folder DESMOID DISEASE
 
Folder CONGENITAL NYSTAGMUS
 
Folder CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE
 
Folder CRIGLER-NAJJAR SYNDROME
 
Folder CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
 
Folder LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A
 
Folder EPIDERMOLYSIS BULLOSA LETALIS
 
Folder KABUKI SYNDROME
 
Folder CHARCOT-MARIE -TOOTH DISEASE
 
Folder GM3 SYNTHASE DEFICIENCY
 
Folder HOMOCYSTINURIA (MTHFR)
 
Folder MOYAMOYA DISEASE 1
 
Folder JACKSON-WEISS SYNDROME
 
Folder INFANTILE REFSUM DISEASE
 
Folder NANOPHTHALMOS
 
Folder LONG Q-T INTERVAL
 
Folder MEVALONATE KINASE DEFICIENCY
 
Folder OCULOCEREBROCUTANEOUS SYNDROME WITH HYPOPIGMENTATION
 
Folder MAST SYNDROME
 
Folder OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
 
Folder LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E
 
Folder PROLIDASE DEFICIENCY
 
Folder SITOSTEROLEMIA
 
Folder POLYCYSTIC KIDNEY DISEASE
 
Folder PROPIONIC ACIDEMIA
 
Folder SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES
 
Folder TYROSINEMIA, TYPE III
 
Folder GITELMAN VARIANT OF BARTTER'S SYNDROME
 
Folder X-LINKED ADRENOLEUKODYSTROPHY
 
Folder EPISODIC ATAXIA, TYPE 3
 
Folder HYPERCHOLANEMIA
 
Folder CYSTINOSIS
 
Folder LEIGH SYNDROME
 
Folder HYPOPHOSPHATASIA
 
Folder OSTEOPENIA AND SPARSE HAIR
 
Folder PYRUVATE KINASE DEFICIENCY
 
Folder PHENYLKETONURIA
 
Folder THYROID OXIDASE DEFICIENCY, 2A
 
Folder CHUDLEY-McCULLOUGH SYNDROME
 
Folder MCAD (MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY)
 
Folder LYK5 DEFICIENCY
 
Folder BLOOM SYNDROME
 
Folder von WILLEBRAND DISEASE
 
Folder CYSTINURIA
 
Folder HAIRY ELBOWS
 
Folder DEAFNESS, NON-SYNDROMIC RECESSIVE
 
Folder PROTEASE INHIBITOR 1 DEFICIENCY
 
Folder HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO
 
Folder MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM
 
Folder WEILL-MARCHESANI SYNDROME
 
Folder PANTOTHENATE KINASE 2
 
Folder TIGHT SKIN CONTRACTURE SYNDROME
 
Folder NEUTROPENIC IMMUNODEFICIENCY, PLUS
 
Folder SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES
 
Folder CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
 
Folder HEREDITARY NON-POLYPOSIS COLON CANCER
 
Folder SENIOR-LOKEN SYNDROME 1
 
Folder OCULO-RENO-CEREBELLAR SYNDROME
 
Folder GLYCOGEN STORAGE DISEASE VI
 
Folder JOUBERT SYNDROME (JSRD)
 
Folder CEREBELLAR HYPOPLASIA (VLDR-associated)
 
Folder CLEIDOCRANIAL DYSOSTOSIS
 
Folder MCCC2 DEFICIENCY
 
Folder GLUTARIC ACIDURIA, TYPE I
 
Folder PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
 
Folder CARNITINE PALMITOYL TRANSFERASE I DEFICIENCY
 
Folder CARDIOMYOPATHY, DILATED, WITH ATAXIA
 
Folder GILLES DE LA TOURETTE SYNDROME
 
Folder NIGHT BLINDNESS, STATIONARY, TYPE 1A
 
Folder HYPERTROPHIC CARDIOMYOPATHY
 
Folder NIGHT BLINDNESS, STATIONARY, TYPE 2A
 
Folder USHER SYNDROME, TYPE 1F
 
Folder ANDROGEN INSENSITIVITY SYNDROME
 
Folder MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO
 
Folder METHYLMALONIC ACIDURIA (MUT TYPE)
 
Folder CEREBRO-OSTEO-NEPHRODYSPLASIA
 
Folder HEMOPHAGOCYTIC LYMPHOHISTOCYTOSIS 1
 
Folder CATARACT, JUVENILE
 
Folder THROMBASTHENIA, GLANZMANN
 
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