Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Autosomal dominant

Infancy, Neonatal

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Autosomal dominant

Infancy, Neonatal

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Autosomal dominant

Childhood, Infancy

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Not applicable

Antenatal, Neonatal

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

Autosomal dominant

Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome

Autosomal dominant

Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation

Autosomal dominant

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

Autosomal dominant

Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome

Autosomal dominant

Developmental malformations-deafness-dystonia syndrome

Autosomal dominant

Adolescent, Infancy

Dextrocardia

Infancy, Neonatal

Diabetic embryopathy

Not applicable

Antenatal, Neonatal

Diamond-Blackfan anemia

Autosomal dominant

Childhood, Infancy, Neonatal

Dianzani autoimmune lymphoproliferative disease

Unknown

All ages

Diaphanospondylodysostosis

Autosomal recessive

Antenatal, Infancy, Neonatal

Diaphragmatic defect-limb deficiency-skull defect syndrome

Unknown

Antenatal

Diaphragmatic hernia-short bowel-asplenia syndrome

Autosomal recessive

Antenatal

Diaphyseal medullary stenosis-bone malignancy syndrome

Autosomal dominant

Diastrophic dysplasia

Autosomal recessive

Antenatal, Neonatal

Diazoxide-resistant focal hyperinsulinism

All ages

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive

Infancy, Neonatal

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Autosomal recessive

Infancy, Neonatal

Dicarboxylic aminoaciduria

Autosomal recessive

Infancy, Neonatal