12q15q21 microdeletion syndrome

Autosomal dominant

Infancy, Neonatal

15q24 microdeletion syndrome

Not applicable, Unknown

Childhood

17q21.31 microdeletion syndrome

Autosomal dominant

Infancy, Neonatal

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

Autosomal recessive

Adolescent, Childhood, Infancy

3-phosphoserine phosphatase deficiency, infantile/juvenile form

Autosomal recessive

Infancy

5q14.3 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

6q25.1 microdeletion syndrome

Not applicable

9p23p22.2 microdeletion syndrome

ALDH18A1-related De Barsy syndrome

Autosomal recessive, Not applicable

Infancy, Neonatal

Acquired schizencephaly

Alagille syndrome due to 20p12 microdeletion

Not applicable

Alagille syndrome due to a JAG1 point mutation

Autosomal dominant

Alagille syndrome due to a NOTCH2 point mutation

Autosomal dominant

Angelman syndrome due to a point mutation

Not applicable

Infancy

Angelman syndrome due to imprinting defect in 15q11-q13

Not applicable

Infancy

Angelman syndrome due to maternal 15q11q13 deletion

Infancy

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Infancy

Atypical hemolytic uremic syndrome with complement gene abnormality

All ages

Autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant

Childhood

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant

Childhood

Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis

Autosomal dominant

Autosomal dominant hypohidrotic ectodermal dysplasia

Autosomal dominant

Infancy, Neonatal

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant

Childhood, Infancy

Autosomal dominant primary microcephaly

Autosomal dominant

Antenatal, Infancy, Neonatal