FTH1-related iron overload

Autosomal dominant

No data available

Fabry disease

X-linked dominant, X-linked recessive

Adolescent, Adult, Childhood

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

Autosomal dominant

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Unknown

No data available

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

Autosomal recessive

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

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

Autosomal dominant

Antenatal, Neonatal

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

Autosomal dominant

Childhood, Infancy, Neonatal

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Autosomal recessive

Infancy, Neonatal

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

Autosomal recessive

Adolescent, Childhood

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Autosomal recessive

Neonatal

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Autosomal recessive

Infancy, Neonatal

Facial dysmorphism-shawl scrotum-joint laxity syndrome

Neonatal

Facial onset sensory and motor neuronopathy

Unknown

Adult, Elderly

Faciocardiorenal syndrome

Autosomal recessive

Neonatal

Facioscapulohumeral dystrophy

Autosomal dominant

All ages

Factor V Amsterdam bleeding disorder

Autosomal dominant

No data available

Factor V Atlanta bleeding disorder

Autosomal dominant

No data available

Factor V short isoforms-related bleeding disorder

Autosomal dominant

No data available

Fallot complex-intellectual disability-growth delay syndrome

Autosomal recessive

Infancy, Neonatal

Familial Alzheimer-like prion disease

Autosomal dominant

Adult

Familial Chilblain lupus

Autosomal dominant

Childhood, Infancy

Familial GPIHBP1 deficiency

Autosomal recessive

Adult