Autosomal dominant mental retardation - PROFILBARU.COM

Autosomal recessive cerebellar ataxia type 1

Autosomal dominant cerebellar ataxia

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

Autosomal dominant porencephaly type I

Prevention of autosomal recessive disorders

Alwadei syndrome

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal dominant leukodystrophy with autonomic disease

Autosomal recessive multiple epiphyseal dysplasia

Autosomal recessive isolated ectopia lentis

Autosomal recessive cerebellar ataxia

Autosomal dominant multiple pterygium syndrome

Woolly hair autosomal recessive

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Autosomal dominant partial epilepsy with auditory features

Tetra-amelia syndrome

Cochleosaccular degeneration with progressive cataracts

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Craniometaphyseal dysplasia

Autosomal dominant nocturnal frontal lobe epilepsy

Medullary cystic kidney disease

Polycystic kidney disease 3 (autosomal dominant)

Autosomal recessive GTP cyclohydrolase I deficiency

Hypohidrotic ectodermal dysplasia

Bethlem myopathy

Tyrosine hydroxylase deficiency

Microcephaly lymphoedema chorioretinal dysplasia

Robinow syndrome

CHAMP1-associated intellectual disability syndrome

Nonsyndromic deafness

Genealogical DNA test

Familial exudative vitreoretinopathy

Retinitis pigmentosa

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant hypophosphatemic rickets

Dominance (genetics)

Genetic disorder

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

Optic neuropathy

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Rhizomelic chondrodysplasia punctata

DiGeorge syndrome

Mitral valve prolapse

Congenital cataract

Multicystic dysplastic kidney

Aplasia cutis congenita

Congenital nephrotic syndrome

Adrenoleukodystrophy

Craniosynostosis

Genetic linkage

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