Extraskeletal Ewing sarcoma

Not applicable

Adolescent, Adult, Childhood

Extraskeletal myxoid chondrosarcoma

Not applicable

Adult

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Autosomal dominant

Neonatal

Eyebrow duplication-syndactyly syndrome

Autosomal recessive

Infancy, Neonatal

Eyelid sebaceous carcinoma

Elderly

F12-associated cold autoinflammatory syndrome

Autosomal dominant

Neonatal

F12-related hereditary angioedema with normal C1Inh

Autosomal dominant

Adult

FADD-related immunodeficiency

Autosomal recessive

Infancy, Neonatal

FASTKD2-related infantile mitochondrial encephalomyopathy

Autosomal recessive

Adolescent, Infancy, Neonatal

FATCO syndrome

Antenatal, Neonatal

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Autosomal recessive

Neonatal

FG syndrome type 1

X-linked recessive

Antenatal, Neonatal

FGFR2-related bent bone dysplasia

Autosomal dominant

Antenatal, Neonatal

FGFR3-related chondrodysplasia

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive

Adolescent, Adult, Childhood

FLNA-related X-linked myxomatous valvular dysplasia

X-linked recessive

Neonatal

FLNC-related handgrip and calf weakness-distal myopathy

Autosomal dominant

Adolescent, Adult

FLOTCH syndrome

Childhood, Infancy

FOXG1 syndrome

Neonatal

FOXG1 syndrome due to 14q12 microdeletion

Not applicable

Infancy, Neonatal

FOXG1 syndrome due to intragenic alteration

Autosomal dominant

FOXP1 Syndrome

Autosomal dominant

Infancy, Neonatal

FRAXE intellectual disability

X-linked recessive

Antenatal, Infancy, Neonatal

FRAXF syndrome

Unknown

Antenatal, Infancy, Neonatal