Isobutyryl-CoA dehydrogenase deficiency

Autosomal recessive

Infancy, Neonatal

Isolated ATP synthase deficiency

Autosomal recessive

Neonatal

Isolated adrenal medullary hyperplasia

Not applicable

Isolated angioid streaks

Adult, Elderly

Isolated anogenital granulomatosis

Adolescent, Adult, Childhood, Elderly

Isolated anterior cervical hypertrichosis

Autosomal dominant, Autosomal recessive

Childhood

Isolated atrial standstill

Autosomal dominant, Not applicable

Adult

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Autosomal dominant

Infancy, Neonatal

Isolated bone marrow mastocytosis

Autosomal dominant, Unknown

Isolated childhood apraxia of speech

Autosomal dominant

Childhood

Isolated complex I deficiency

Autosomal recessive, Mitochondrial inheritance, X-linked dominant

All ages

Isolated complex III deficiency

Autosomal recessive, Mitochondrial inheritance

Childhood, Infancy, Neonatal

Isolated congenital adermatoglyphia

Autosomal dominant

Infancy, Neonatal

Isolated congenital alacrima

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Isolated congenital anonychia

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Isolated congenital anosmia

Autosomal dominant, X-linked recessive

Infancy, Neonatal

Isolated congenital hepatic fibrosis

Neonatal

Isolated congenital hypogonadotropic hypogonadism

Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive

Adolescent, Infancy, Neonatal

Isolated congenital onychodysplasia

Neonatal

Isolated cytochrome C oxidase deficiency

Autosomal recessive, Mitochondrial inheritance

Isolated delta-storage pool disease

Autosomal dominant, Autosomal recessive

Isolated familial medullary thyroid carcinoma

Autosomal dominant

Isolated focal cortical dysplasia

All ages

Isolated focal non-epidermolytic palmoplantar keratoderma

Autosomal dominant

Childhood