ANCR - Angelman syndrome chromosome region Gene

Species: Homo sapiens

Gene Type: other
Gene ID: 282

Summary

Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017]

Related Diseases

Diseases Alias
Angelman Syndrome
  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome

Chromosome 15q11-Q13 Duplication Syndrome
  • 15q11q13 Microduplication Syndrome

  • Duplication 15q11-Q13 Syndrome

  • Autism Susceptibility 4

  • 15q11-Q13 Duplication Syndrome

  • Dup15q Syndrome

  • Duplication/Inversion 15q11

  • Idic(15)

  • Inv Dup(15)

  • Inverted Duplication 15

  • Isodicentric Chromosome 15

  • Isodicentric Chromosome 15 Syndrome

  • Non-Distal Tetrasomy 15q

  • 15q11q13 Duplication Syndrome

  • Dup(15)(Q11q13)

  • Trisomy 15q11q13

Prader-Willi Syndrome
  • Prader-Labhart-Willi Syndrome

  • PWS

  • Willi-Prader Syndrome

  • Prader-Willi Syndrome Due To Translocation

  • Prader-Willi Syndrome Due To Imprinting Mutation

  • Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

  • Prader Willi Syndrome

  • Upd(15)Mat

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma