Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia

Autosomal Recessive Non-Syndromic Intellectual Disability

Acoustic Neuroma

Alzheimer Disease, Familial, 1

Tangier Disease

Ichthyosis, Congenital, Autosomal Recessive 4b

Autosomal Recessive Congenital Ichthyosis

Bile Acid Synthesis Defect, Congenital, 5