Diaphragmatic hernia-short bowel-asplenia syndrome

Autosomal recessive

Antenatal

Diethylstilbestrol syndrome

Not applicable

All ages

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Autosomal recessive

Infancy, Neonatal

Diffuse lymphatic malformation

Not applicable

Infancy, Neonatal

Digital extensor muscle aplasia-polyneuropathy

Neonatal

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Autosomal recessive

Infancy, Neonatal

Dislocation of the hip-dysmorphism syndrome

Autosomal recessive

Infancy, Neonatal

Distal 16p11.2 microdeletion syndrome

Not applicable

Antenatal, Infancy, Neonatal

Distal 17p13.1 microdeletion syndrome

Not applicable

Infancy, Neonatal

Distal 17p13.3 microdeletion syndrome

Not applicable

Antenatal, Infancy, Neonatal

Distal 22q11.2 microdeletion syndrome

Autosomal dominant

Antenatal, Neonatal

Distal 22q11.2 microduplication syndrome

Autosomal dominant

Antenatal, Childhood, Infancy, Neonatal

Distal 7q11.23 microdeletion syndrome

Autosomal dominant, Not applicable

Infancy, Neonatal

Distal 7q11.23 microduplication syndrome

Infancy, Neonatal

Distal Xq28 microduplication syndrome

X-linked recessive

Infancy, Neonatal

Distal arthrogryposis type 1

Autosomal dominant

Antenatal, Neonatal

Distal arthrogryposis type 10

Autosomal dominant

Infancy, Neonatal

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

Autosomal recessive

Distal deletion 10q syndrome

Not applicable, Unknown

Antenatal, Neonatal

Distal deletion 12p syndrome

Infancy, Neonatal

Distal deletion 12q syndrome

Neonatal

Distal deletion 13q syndrome

Antenatal, Infancy, Neonatal

Distal deletion 14q syndrome

Neonatal

Distal deletion 15q syndrome

Antenatal, Neonatal