Familial apolipoprotein A5 deficiency

Autosomal recessive

Adult

Familial apolipoprotein C-II deficiency

Autosomal recessive

Adolescent, Childhood

Familial clubfoot due to 17q23.1q23.2 microduplication

Autosomal dominant, Not applicable

Infancy, Neonatal

Familial clubfoot due to 5q31 microdeletion

Not applicable

Familial clubfoot due to PITX1 point mutation

Autosomal dominant

Familial hypocalciuric hypercalcemia type 1

Autosomal dominant

All ages

Familial hypocalciuric hypercalcemia type 2

Autosomal dominant

Familial hypocalciuric hypercalcemia type 3

Autosomal dominant

Familial lipase maturation factor 1 deficiency

Autosomal recessive

Adult

Familial lipoprotein lipase deficiency

Autosomal dominant, Autosomal recessive

Childhood, Infancy

Familial porencephaly

Autosomal dominant

Infancy, Neonatal

Familial schizencephaly

Autosomal recessive

Antenatal, Neonatal

Fast-channel congenital myasthenic syndrome

Autosomal dominant, Autosomal recessive

Hao-Fountain syndrome due to 16p13.2 microdeletion

Not applicable

Childhood, Infancy

Hao-Fountain syndrome due to USP7 mutation

Hereditary angioedema type 1

Autosomal dominant

All ages

Hereditary angioedema type 2

Autosomal dominant

All ages

Heritable pulmonary arterial hypertension

Autosomal dominant, Autosomal recessive

All ages

Idiopathic pulmonary arterial hypertension

Not applicable

All ages

Idiopathic triglyceride deposit cardiomyovasculopathy

Unknown

Intellectual disability syndrome due to a DYRK1A point mutation

Autosomal dominant

Infancy, Neonatal

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation

Autosomal dominant

Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation

Autosomal dominant, Not applicable

Infancy, Neonatal

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Autosomal dominant, Not applicable

Infancy, Neonatal