Autosomal dominant distal spinal muscular atrophy

Autosomal dominant cerebellar ataxia

Autosomal recessive cerebellar ataxia type 1

Autosomal dominant polycystic kidney disease

Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons

Autosomal recessive polycystic kidney disease

Autosomal dominant GTP cyclohydrolase I deficiency

Autosomal recessive bestrophinopathy

Prevention of autosomal recessive disorders

Autosomal dominant porencephaly type I

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal dominant leukodystrophy with autonomic disease

Alwadei syndrome

Autosomal recessive cerebellar ataxia

Autosomal recessive multiple epiphyseal dysplasia

Autosomal recessive isolated ectopia lentis

Autosomal dominant partial epilepsy with auditory features

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Autosomal dominant multiple pterygium syndrome

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Woolly hair autosomal recessive

Craniometaphyseal dysplasia

Cochleosaccular degeneration with progressive cataracts

Tetra-amelia syndrome

Autosomal dominant nocturnal frontal lobe epilepsy

Polycystic kidney disease 3 (autosomal dominant)

Medullary cystic kidney disease

Autosomal recessive GTP cyclohydrolase I deficiency

Hypohidrotic ectodermal dysplasia

Bethlem myopathy

Microcephaly lymphoedema chorioretinal dysplasia

Tyrosine hydroxylase deficiency

CHAMP1-associated intellectual disability syndrome

Robinow syndrome

Nonsyndromic deafness

Familial exudative vitreoretinopathy

Retinitis pigmentosa

Genealogical DNA test

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant hypophosphatemic rickets

Genetic disorder

Dominance (genetics)

Chondrodysplasia punctata

Photic sneeze reflex

Limb–girdle muscular dystrophy

Ichthyosis vulgaris

Mandibulofacial dysostosis-microcephaly syndrome

Palmoplantar keratoderma

TNF receptor associated periodic syndrome

Distal renal tubular acidosis

Hypogammaglobulinemia

Distal spinal muscular atrophy type 1

Sideroblastic anemia

Pendred syndrome

Hereditary spastic paraplegia

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Optic neuropathy

Rhizomelic chondrodysplasia punctata

DiGeorge syndrome

Mitral valve prolapse

Congenital cataract

Multicystic dysplastic kidney

Aplasia cutis congenita

Adrenoleukodystrophy

Congenital nephrotic syndrome

Craniosynostosis

Genetic linkage