Van Maldergem syndrome 1

A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.

Van Maldergem syndrome 2

A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.

Brown-Vialetto-Van Laere syndrome 1

A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.

Brown-Vialetto-Van Laere syndrome 2

A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.

autosomal dominant thrombophilia due to protein S deficiency

A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

sickle cell disease

A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/0-thalassemia).

Charcot-Marie-Tooth disease intermediate type

A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.

Moebius syndrome

A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).

autosomal recessive thrombophilia due to protein S deficiency

A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

refractive amblyopia

An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s).