Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

Infancy, Neonatal

Kleefstra syndrome due to 9q34 microdeletion

Not applicable

Infancy, Neonatal

Kleefstra syndrome due to a point mutation

Autosomal dominant

Neonatal

Koolen-De Vries syndrome due to a point mutation

Autosomal dominant

Infancy, Neonatal

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Autosomal recessive

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Low oxygen affinity alpha chain hemoglobin disease

Autosomal dominant

Low oxygen affinity beta chain hemoglobin disease

Autosomal dominant

Low oxygen affinity gamma chain hemoglobin disease

Autosomal dominant

Infancy, Neonatal

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Autosomal recessive

Infancy

Mixed cryoglobulinemia type II

All ages

Mixed cryoglobulinemia type III

All ages

Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)

Not applicable

Adolescent, Adult, Childhood, Elderly

Mixed phenotype acute leukemia with t(v;11q23.3)

Not applicable

Adolescent, Adult, Childhood, Infancy

Monosomy X syndrome

Not applicable

Antenatal, Childhood, Infancy, Neonatal

Mosaic monosomy X syndrome

Not applicable

Antenatal, Childhood, Infancy, Neonatal

Mowat-Wilson syndrome due to a ZEB2 point mutation

Autosomal dominant

Antenatal, Neonatal

Mowat-Wilson syndrome due to monosomy 2q22

Antenatal, Neonatal

Myopathic intestinal pseudoobstruction

Unknown

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

Autosomal recessive

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

Autosomal recessive

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Autosomal recessive

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion

Not applicable, Unknown

Infancy, Neonatal

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

Autosomal dominant, Not applicable

Neonatal