Jacobsen syndrome

Not applicable, Unknown

Antenatal

Jalili syndrome

Autosomal recessive

Childhood

Jawad syndrome

Autosomal recessive

Infancy, Neonatal

Jeune syndrome

Autosomal recessive

Antenatal, Neonatal

Johanson-Blizzard syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Johnson neuroectodermal syndrome

Autosomal dominant

Childhood

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Autosomal recessive

Neonatal

Joubert syndrome with ocular defect

Autosomal recessive

Infancy, Neonatal

Joubert syndrome with oculorenal defect

Autosomal recessive

Infancy, Neonatal

Joubert syndrome with renal defect

Autosomal recessive

Infancy, Neonatal

Juberg-Hayward syndrome

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Jung syndrome

Infancy, Neonatal

Juvenile Paget disease

Autosomal recessive

Childhood

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant

Infancy, Neonatal

KBG syndrome

Autosomal dominant

Adolescent, Childhood, Infancy, Neonatal

KDM5C-related syndromic X-linked intellectual disability

X-linked recessive

Childhood

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

Autosomal recessive

Neonatal

KLHL7-related Bohring-Opitz-like syndrome

Autosomal recessive

Antenatal, Neonatal

Kabuki syndrome

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Kagami-Ogata syndrome

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Kallmann syndrome-heart disease syndrome

Autosomal recessive

Infancy, Neonatal

Kandori fleck retina

Adolescent, Adult, Childhood

Kapur-Toriello syndrome

Autosomal recessive

Infancy, Neonatal

Karsch-Neugebauer syndrome

Autosomal dominant

Infancy, Neonatal