Early-onset sutural cataract

Autosomal dominant

Infancy, Neonatal

Early-onset zonular cataract

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Embryonal rhabdomyosarcoma

Multigenic/multifactorial

Epignathus

Not applicable

Antenatal, Neonatal

Erythrocyte galactose epimerase deficiency

Autosomal recessive

Extramedullary soft tissue plasmacytoma

F12-related hereditary angioedema with normal C1Inh

Autosomal dominant

Adult

FOXG1 syndrome due to 14q12 microdeletion

Not applicable

Infancy, Neonatal

FOXG1 syndrome due to intragenic alteration

Autosomal dominant

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Not applicable, Unknown

Infancy

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Autosomal dominant, Not applicable

Childhood, Infancy

Familial LCAT deficiency

Autosomal recessive, Not applicable

All ages

Familial afibrinogenemia

Autosomal recessive

Infancy, Neonatal

Familial cylindromatosis

Autosomal dominant

Adolescent, Adult

Familial dysfibrinogenemia

Autosomal dominant

All ages

Familial episodic pain syndrome with predominantly lower limb involvement

Autosomal dominant

Infancy, Neonatal

Familial episodic pain syndrome with predominantly upper body involvement

Autosomal dominant

Infancy, Neonatal

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Autosomal recessive

Familial hypodysfibrinogenemia

Autosomal dominant

Familial hypofibrinogenemia

Autosomal dominant

All ages

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Autosomal recessive, X-linked recessive

Infancy, Neonatal

Familial isolated hypoparathyroidism due to impaired PTH secretion

Autosomal dominant, Autosomal recessive

Familial multiple trichoepithelioma

Autosomal dominant

Childhood

Familial normophosphatemic tumoral calcinosis

Autosomal recessive

Infancy