SMARCA2-related blepharophimosis-intellectual disability syndrome

Autosomal dominant

Adolescent, Childhood, Infancy

SPECC1L-related hypertelorism syndrome

Autosomal dominant

Neonatal

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Autosomal recessive

Antenatal, Neonatal

Saethre-Chotzen syndrome

Autosomal dominant

Antenatal, Neonatal

Sanjad-Sakati syndrome

Autosomal recessive

Infancy, Neonatal

Say-Barber-Miller syndrome

Unknown

Antenatal, Infancy, Neonatal

Scalp defects-postaxial polydactyly syndrome

Autosomal dominant

Neonatal

Scalp-ear-nipple syndrome

Autosomal dominant

Neonatal

Schilbach-Rott syndrome

Autosomal dominant

Infancy, Neonatal

Schinzel-Giedion syndrome

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Schisis association

Not applicable, Unknown

Antenatal, Neonatal

Schneckenbecken dysplasia

Autosomal recessive

Antenatal

Schnitzler syndrome

Not applicable

Adult

Schuurs-Hoeijmakers syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

Scimitar syndrome

Not applicable

Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal

Sclerosteosis

Autosomal recessive

Childhood, Neonatal

Seckel syndrome

Autosomal recessive

Antenatal

Segmental venous malformation

Not applicable

Childhood, Neonatal

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

Autosomal recessive

Septo-optic dysplasia spectrum

Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable

Antenatal, Infancy, Neonatal

Severe X-linked intellectual disability, Gustavson type

X-linked recessive

Infancy, Neonatal

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Autosomal recessive

Infancy

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Autosomal recessive

Neonatal