Intellectual disability-short stature-hypertelorism syndrome

Childhood

Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome

X-linked dominant

Intellectual disability-spasticity-ectrodactyly syndrome

Infancy, Neonatal

Intermediate osteopetrosis

Autosomal recessive

Childhood

Intractable diarrhea-choanal atresia-eye anomalies syndrome

Infancy, Neonatal

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

Antenatal, Neonatal

Inverted duplicated chromosome 15 syndrome

Not applicable, Unknown

Neonatal

Isochromosomy Yp syndrome

Adolescent, Adult

Isochromosomy Yq syndrome

Adolescent, Adult

Isolated Joubert syndrome

Autosomal recessive

Antenatal

Isolated Klippel-Feil syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Antenatal, Infancy, Neonatal

Isolated Pierre Robin sequence

Autosomal dominant, Multigenic/multifactorial, Not applicable, Unknown

Antenatal, Neonatal

Isolated arrhinia

Not applicable

Antenatal, Neonatal

Isolated congenital laryngeal web

Infancy, Neonatal

Isolated congenital microcephaly

Antenatal, Neonatal

Isolated congenital nasal pyriform aperture stenosis

Neonatal

Isolated congenital syngnathia

Neonatal

Isolated ectopia lentis

Autosomal dominant, Autosomal recessive

All ages

Isolated megalencephaly

Autosomal recessive

Antenatal, Neonatal

Isolated polycystic liver disease

Autosomal dominant, Not applicable

Adult

Isolated split hand-split foot malformation

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Isotretinoin syndrome

Not applicable

Antenatal, Infancy, Neonatal

Isotretinoin-like syndrome

Autosomal recessive, X-linked recessive

Infancy, Neonatal

Jackson-Weiss syndrome

Autosomal dominant

Neonatal