Additional Disease Briefs



Frank-Ter Haar syndrome

Also known as: Borrone Dermatocardioskeletal syndrome, Borrone dermatocardioskeletal syndrome, Borrone di Rocco Crovato syndrome, FRANK-TER Haar syndrome, FTHS, Frank Ter Haar syndrome, Frank-Ter Haar syndrome, Melnick-Needles syndrome, autosomal recessive, Melnick-Needles syndrome, autosomal recessive, formerly, Ter Haar syndrome, autosomal recessive Melnick-Needles syndrome (formerly), megalocornea, multiple skeletal anomalies, and developmental delay


Fraser syndrome 1

Also known as: FRASRS1, Fraser syndrome, Fraser syndrome 1, cryptophthalmos with Other malformations, cryptophthalmos-syndactyly syndrome




Frasier syndrome

Also known as: Frasier syndrome, Frasier syndrome, autosomal dominant, somatic mutation


FRAXE intellectual disability

Also known as: FRAXE intellectual disability, FRAXE intellectual disability syndrome, FRAXE mental retardation syndrome, FRAXE syndrome, X-linked intellectual disability associated with fragile site FRAXE, X-linked mental retardation associated with fragile site FRAXE, fragile XE syndrome, fragile site, folic acid type, intellectual developmental disorder, X-linked 109, X-linked recessive, intellectual disability associated with fragile site FRAXE, intellectual disability, X-linked, associated with fragile site FRAXE, mental retardation, X-linked, associated with fragile site FRAXE


free sialic acid storage disease, infantile form

Also known as: ISSD, N-acetylneuraminic acid storage disease, Nana storage disease, infantile free sialic acid storage disease, infantile sialic acid storage disease, infantile sialic acid storage disorder, sialic acid storage disorder, infantile, sialuria, infantile form