Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Autosomal dominant

Infancy, Neonatal

Neuronal intestinal pseudoobstruction

X-linked recessive

All ages

Obesity due to CEP19 deficiency

Autosomal recessive

Childhood

Obesity due to SIM1 deficiency

Autosomal recessive

Infancy, Neonatal

Obesity due to congenital leptin deficiency

Autosomal recessive

Childhood

Obesity due to leptin receptor gene deficiency

Autosomal recessive

Childhood, Infancy

Obesity due to melanocortin 4 receptor deficiency

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Obesity due to pro-opiomelanocortin deficiency

Autosomal recessive

Infancy, Neonatal

Obesity due to prohormone convertase I deficiency

Autosomal recessive

Infancy, Neonatal

Okihiro syndrome due to 20q13 microdeletion

Not applicable

Okihiro syndrome due to a point mutation

Autosomal dominant

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Autosomal dominant, Not applicable

Infancy, Neonatal

PYCR1-related De Barsy syndrome

Autosomal recessive

Phelan-McDermid syndrome due to 22q13.3 deletion

Not applicable

Phelan-McDermid syndrome due to SHANK3 mutation

Autosomal dominant

Phosphoserine aminotransferase deficiency, infantile/juvenile form

Autosomal dominant

Infancy, Neonatal

Postsynaptic congenital myasthenic syndrome

Autosomal recessive

Infancy, Neonatal

Prader-Willi syndrome due to imprinting mutation

Not applicable

Antenatal, Neonatal

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

Not applicable

Adolescent, Adult

Prader-Willi syndrome due to paternal 15q11q13 deletion

Autosomal dominant

Antenatal, Neonatal

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Autosomal dominant

Antenatal, Neonatal

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

Autosomal dominant

Antenatal, Neonatal

Prader-Willi syndrome due to translocation

Not applicable

Antenatal, Neonatal

Presynaptic congenital myasthenic syndromes

Autosomal dominant, Autosomal recessive

Infancy, Neonatal