Denys-Drash syndrome

Autosomal dominant

Adolescent, Childhood, Infancy, Neonatal

Dermatitis herpetiformis

Not applicable

All ages

Dermatofibrosarcoma protuberans

Not applicable

All ages

Dermatoleukodystrophy

Autosomal recessive

Neonatal

Dermatomyositis

Not applicable

Adult, Elderly

Dermatopathia pigmentosa reticularis

Autosomal dominant

Infancy, Neonatal

Dermatosparaxis Ehlers-Danlos syndrome

Autosomal recessive

Infancy, Neonatal

Dermochondrocorneal dystrophy

Autosomal recessive

Childhood

Desmin-related myopathy with Mallory body-like inclusions

Autosomal recessive

Infancy, Neonatal

Desminopathy

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Desmoid tumor

Not applicable, Unknown

Adolescent, Adult

Desmoplastic infantile astrocytoma/ganglioglioma

Not applicable

Infancy, Neonatal

Desmoplastic small round cell tumor

Not applicable

Adolescent, Adult

Desmosterolosis

Autosomal recessive

Antenatal, Infancy, Neonatal

Developmental and epileptic encephalopathy with spike-wave activation in sleep

Autosomal dominant, Not applicable

Childhood

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Autosomal recessive

Infancy, Neonatal

Developmental delay with autism spectrum disorder and gait instability

Autosomal recessive

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

Diamond-Blackfan anemia

Autosomal dominant

Childhood, Infancy, Neonatal

Dianzani autoimmune lymphoproliferative disease

Unknown

All ages

Diaphyseal medullary stenosis-bone malignancy syndrome

Autosomal dominant

Diastrophic dysplasia

Autosomal recessive

Antenatal, Neonatal

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive

Infancy, Neonatal