Auriculoosteodysplasia

Autosomal dominant

Neonatal

Autosomal dominant brachyolmia

Autosomal dominant

Childhood

Autosomal dominant deafness-onychodystrophy syndrome

Autosomal dominant

Antenatal, Neonatal

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

Autosomal dominant

Childhood, Infancy

Autosomal dominant multiple pterygium syndrome

Autosomal dominant

Childhood

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant

Antenatal, Neonatal

Autosomal dominant osteopetrosis type 1

Autosomal dominant

Adolescent, Childhood

Autosomal dominant otospondylomegaepiphyseal dysplasia

Autosomal dominant

Infancy, Neonatal

Autosomal dominant popliteal pterygium syndrome

Autosomal dominant

Antenatal, Neonatal

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Autosomal dominant

Neonatal

Autosomal dominant prognathism

Autosomal dominant

Neonatal

Autosomal dominant spondylocostal dysostosis

Autosomal dominant

No data available

Autosomal recessive anterior segment dysgenesis

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive brachyolmia

Autosomal recessive

Childhood

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive

Neonatal

Autosomal recessive distal osteolysis syndrome

Autosomal recessive

Childhood

Autosomal recessive faciodigitogenital syndrome

Autosomal recessive

Neonatal

Autosomal recessive frontotemporal pachygyria

Autosomal recessive

Infancy, Neonatal

Autosomal recessive malignant osteopetrosis

Autosomal recessive

Infancy, Neonatal

Autosomal recessive multiple pterygium syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Autosomal recessive spondylocostal dysostosis

Autosomal recessive

Antenatal, Neonatal

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Autosomal recessive

Antenatal

Axenfeld-Rieger syndrome

Autosomal dominant

Infancy, Neonatal

Axial mesodermal dysplasia spectrum

Antenatal