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    A – F

    Print | Thursday 12 January 2012 | 3,202 views

    -A-

    Acromegaly
    - Gigantism
    Addison disease
    - Primary adrenocortical deficiency
    - Acquired hypocortisolism
    - Acquired chronic adrenal insufficiency
    Adenoma sebaceum
    Alexander disease
    - Leukodystrophy with Rosenthal fibers
    Allagille syndrome
    - Allagille-Watson syndrome
    - Arteriohepatic dysplasia
    - Syndromic bile duct paucity
    Alpha 1 antitrypsin deficiency
    Amyotrophic lateral sclerosis
    - Charcot disease
    - Lou-Gehrig disease
    Anhydrotic ectodermal dysplasia
    Aniridia
    - Deletion 11p
    Ataxia telangectasia
    - Louis-Bar syndrome
    Atrophy, olivopontocerebellar
    - Atrophy, sporadic olivopontocerebellar type 1
    Axenfeld-Rieger syndrome

    -B-

    Batten disease
    - Neuronal ceroid lipofuscinosis
    - Spielmeyer-Vogt disease
    Becker type muscular dystrophy
    Bechterew disease
    Behçet syndrome
    Blepharospasm
    Bruton agammaglobulinemia
    - X-linked agammaglobulinemia
    - Bruton disease
    - Bruton tyrosine kinase gene disease

    -C-

    Cardiofaciocutaneous syndrome (CFC)
    Cerebellar ataxia, Holmes type
    - Cerebello-olivar atrophy
    Cervical dystonia
    - Torticollis spastica
    - Torticollis
    - Spasmodic torticollis
    Charcot-Marie-Tooth disease
    - Hereditary Charcot-Marie-Tooth neuropathy
    Chiari malformation
    - Arnold-Chiari malformation
    Churg-Strauss syndrome
    - Allergic granulomatosis
    - Granulomatous small-vessel vasculitis
    Club foot
    - Pes equinovarus congenitus
    Cohen syndrome
    Congenital factor XIII deficiency
    - Fibrin-stabilizing factor deficency
    Cornelia de Lange syndrome
    - Brachmann-de Lange syndrome
    Craniosynostosis
    Crohn disease
    Cushing syndrome
    - Corticotroph pituitary adenoma
    - Primary pigmented nodular adrenal disease
    Cutis verticis gyrata

    -D-

    Darier disease
    - Keratosis follicularis
    - Dyskeratosis follicularis
    - Darier-White disease
    DiGeorge syndrome
    - Thymic hypoplasia
    - CATCH22 syndrome
    - 22q11.2 deletion syndrome
    - Velocardiofacial syndrome
    Dilated cardiomyopathy
    Distal myopathies
    Down syndrome
    - Trisomy 21
    Duchenne type muscular dystrophy
    - Pseudohypertrophic progressive muscular dystrophy, Duchenne type
    Dystonia, primary (DYT1)
    - Dystonia musculorum deformans
    - Dystonia, early-onset generalized torsion (EOTD)
    - Dystonia, early-onset primary
    - Dystonia, idiopathic
    - Dystonia, idiopathic torsion
    - Oppenheim’s dystonia

    -E-

    Epidermolysis bullosa

    -F-

    Facioscapulohumeral muscular dystrophy
    - Landouzy-Déjérine disease
    Fahr disease
    - Idiopathic basal ganglia calcification
    - Bilateral striopallidodentate calcinosis
    - Cerebrovascular ferrocalcinosis
    Familial Mediterranian fever
    Fibromatosis, agressive
    - Desmoid disease
    Friedreich ataxia
    - Early onset ataxia