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17q21.31 microdeletion / KANSL1 mutations: Koolen-de Vries syndrome

1q43q44 and 1q44 microdeletion syndromes

Adams-Oliver syndrome

Aicardi-Goutières syndrome

Albinism & Hermansky–Pudlak syndrome

Allan-Herndon-Dudley syndrome

Alport syndrome

Amyloidosis

Amyotrophic lateral sclerosis

Anophthalmia and microphthalmia (isolated and syndromic)

Arthrogryposis

Arthrogryposis multiplex congenita, distal, type 1A (DA1A)

Arthrogryposis multiplex congenita, distal, type 1B (DA1B)

Arthrogryposis, distal, type 2A (DA2A)

Arthrogryposis, distal, type 2B (DA2B)

Arthrogryposis, distal, type 3 (DA3)

Arthrogryposis, distal, type 4 (DA4)

Arthrogryposis, distal, type 5 (DA5)

Arthrogryposis, distal, type 6 (DA6)

Arthrogryposis, distal, type 7 (DA7)

Arthrogryposis, distal, type 8 (DA8)

Arthrogryposis, distal, type 9 (DA9)

Ataxias with oculomotor apraxias (AOAs)

Bardet-Biedl syndrome

Bartter syndrome

Bone marrow failure

Breast and ovarian cancer, hereditary

Brugada syndrome

Cerebral cavernous malformations

Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)

Charcot-Marie-Tooth disease

Coffin-Siris syndrome

Congenital cataract, isolated

Congenital central hypoventilation syndrome

Congenital defects of bile acid synthesis

Congenital ichthyosis

Congenital myasthenic syndrome

Congenital Myopathies

Cystic fibrosis and CFTR-related disorders

Deafness and hereditary hearing loss, nonsyndromic

Dyskeratosis congenita

Episodic ataxia

Familial dyskinesia with facial myokymia (ADCY5 gene)

Familial hyperaldosteronism

Familial non-Hodgkin lymphoma

Fanconi anemia

Female infertility

Fetal Alcohol Spectrum Disorders and differential diagnosis

Fibromyalgia: the genetic differential diagnosis

Fleck retina

Galactosemia

Genetic stroke syndromes

Hereditary hypoparathyroidism, isolated

Hereditary red cell membrane disorders

Hereditary sensory and autonomic neuropathy

Histone-modification disorders

Hyperammonemia disorders

Hypophosphatemic rickets

Infertility: genetic causes

Joubert and Meckel-Gruber syndromes

Leigh syndrome/NARP

Lissencephaly

List of genes (Whole Exome Sequencing)

Lysosomal acid lipase deficiency (Wolman disease and CESD)

Maple syrup urine disease

Membranoproliferative glomerulonephritis

Mental Retardation 5 (MRD5 – SYNGAP1 gene mutations)

Microcephaly

Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency)

MMP21 mutations causing autosomal recessively inherited heterotaxy

Myocardial infarction, familial

Neuronal ceroid lipofuscinoses

Newly identified genes in Rett-like patients

Niemann-Pick disease

Noonan syndrome

Overgrowth syndromes

Parkinson disease

Polycystic kidney disease

Potocki-Lupski syndrome

Primary ciliary dyskinesia

Pseudohypoaldosteronism

Pseudoxanthoma Elasticum

Rare genetic forms of obesity

Retinitis pigmentosa

Spinocerebellar ataxias: genetic subtypes

Spondylometaphyseal dysplasia

Stargardt disease

Sudden death

Thalassemia

Thanatophoric dysplasia

Tuberous sclerosis: catching mosaicism and intronic mutations

Turner syndrome (chromosome X monosomy)

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