D-glyceric aciduria

Autosomal recessive

All ages

DDOST-CDG

Autosomal recessive

Infancy, Neonatal

DDX41-related hematologic malignancy predisposition syndrome

Multigenic/multifactorial

Adult, Elderly

DEND syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Infancy, Neonatal

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Autosomal dominant

Childhood, Infancy, Neonatal

DICER1 tumor-predisposition syndrome

Autosomal dominant

Adolescent, Adult, Childhood

DITRA

Autosomal recessive

All ages

DK1-CDG

Autosomal recessive

Infancy, Neonatal

DNA2-related mitochondrial DNA deletion syndrome

Autosomal dominant

All ages

DNAJB2-related Charcot-Marie-Tooth disease type 2

Autosomal recessive

Adult

DNAJB4-related distal myopathy

Autosomal dominant

DNAJB6-related distal myopathy

Autosomal dominant

DNAJB6-related limb-girdle muscular dystrophy D1

Autosomal dominant

Adult

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Autosomal dominant

Childhood, Infancy, Neonatal

DNMT3A-related microcephalic dwarfism

Autosomal dominant

Antenatal, Neonatal

DONSON-related microcephaly-short stature-limb abnormalities spectrum

Autosomal recessive

Antenatal, Neonatal

DOORS syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

DPAGT1-CDG

Autosomal recessive

Childhood, Infancy, Neonatal

DPM1-CDG

Autosomal recessive

Infancy, Neonatal

DPM3-CDG

Autosomal recessive

Childhood

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

Autosomal dominant

Adult, Antenatal, Childhood, Infancy, Neonatal

DYRK1A-related intellectual disability syndrome

Autosomal dominant, Not applicable, Unknown

Infancy

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

Not applicable, Unknown

Infancy, Neonatal

Dahlberg-Borer-Newcomer syndrome

Autosomal recessive, X-linked recessive

Childhood