Autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive

Childhood

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive

Childhood

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Autosomal recessive

Autosomal recessive hypohidrotic ectodermal dysplasia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive

Childhood, Infancy

Autosomal recessive primary microcephaly

Autosomal recessive

Antenatal, Neonatal

Autosomal thrombocytopenia with normal platelets

Autosomal dominant, Autosomal recessive

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

Adolescent, Adult, Childhood

B-lymphoblastic leukemia/lymphoma with hypodiploidy

Adolescent, Adult, Childhood

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

Adolescent, Adult, Childhood, Elderly, Infancy

B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

Adolescent, Adult, Childhood

B-lymphoblastic leukemia/lymphoma with t(17;19)

B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)

Adolescent, Adult, Childhood

B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

Adolescent, Adult, Childhood

B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)

B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

Not applicable

Adolescent, Adult, Childhood, Elderly, Infancy

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

Adolescent, Adult, Childhood, Infancy

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

Autosomal dominant

Antenatal, Childhood, Infancy, Neonatal

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Not applicable

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Infancy, Neonatal

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Autosomal dominant

Infancy, Neonatal

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Infancy, Neonatal

Bleeding diathesis due to glycoprotein VI deficiency

Autosomal recessive

Bleeding diathesis due to integrin alpha2-beta1 deficiency

Autosomal dominant