-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
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
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-
-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